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- Publication . Article . 2016Open Access EnglishAuthors:Dammers, E.; Palm, M.; Van Damme, M.; Vigouroux, C.; Smale, D.; Conway, S.; Toon, G.C.; Jones, N.; Nussbaumer, E.; Warneke, T.; +17 moreDammers, E.; Palm, M.; Van Damme, M.; Vigouroux, C.; Smale, D.; Conway, S.; Toon, G.C.; Jones, N.; Nussbaumer, E.; Warneke, T.; Petri, C.; Clarisse, L.; Clerbaux, C.; Hermans, C.; Lutsch, E.; Strong, K.; Hannigan, J.W.; Nakajima, H.; Morino, I.; Herrera, B.; Stremme, W.; Grutter, M.; Schaap, M.; Kruit, R.J.W.; Notholt, J.; Coheur, P.F.; Erisman, J.W.;Countries: France, Belgium, Netherlands, FranceProject: NSERC , ARC | Tropospheric ozone and ai... (DP110101948), ARC | High resolution Fourier t... (LE0668470)
Global distributions of atmospheric ammonia (NH3) measured with satellite instruments such as the Infrared Atmospheric Sounding Interferometer (IASI) contain valuable information on NH3 concentrations and variability in regions not yet covered by ground-based instruments. Due to their large spatial coverage and (bi-)daily overpasses, the satellite observations have the potential to increase our knowledge of the distribution of NH3 emissions and associated seasonal cycles. However the observations remain poorly validated, with only a handful of available studies often using only surface measurements without any vertical information. In this study, we present the first validation of the IASI-NH3 product using ground-based Fourier transform infrared spectroscopy (FTIR) observations. Using a recently developed consistent retrieval strategy, NH3 concentration profiles have been retrieved using observations from nine Network for the Detection of Atmospheric Composition Change (NDACC) stations around the world between 2008 and 2015. We demonstrate the importance of strict spatio-temporal collocation criteria for the comparison. Large differences in the regression results are observed for changing intervals of spatial criteria, mostly due to terrain characteristics and the short lifetime of NH3 in the atmosphere. The seasonal variations of both datasets are consistent for most sites. Correlations are found to be high at sites in areas with considerable NH3 levels, whereas correlations are lower at sites with low atmospheric NH3 levels close to the detection limit of the IASI instrument. A combination of the observations from all sites (Nobs Combining double low line 547) give a mean relative difference of ĝ'32.4ĝ€±ĝ€(56.3)ĝ€%, a correlation r of 0.8 with a slope of 0.73. These results give an improved estimate of the IASI-NH3 product performance compared to the previous upper-bound estimates (-50 to +100%).
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You have already added works in your ORCID record related to the merged Research product. - Publication . Preprint . Article . 2019 . Embargo End Date: 01 Jan 2018Open AccessAuthors:Bocquet, S.; Dietrich, J. P.; Schrabback, T.; Bleem, L. E.; Klein, M.; Allen, S. W.; Applegate, D. E.; Ashby, M. L. N.; Bautz, M.; Bayliss, M.; +71 moreBocquet, S.; Dietrich, J. P.; Schrabback, T.; Bleem, L. E.; Klein, M.; Allen, S. W.; Applegate, D. E.; Ashby, M. L. N.; Bautz, M.; Bayliss, M.; Benson, B. A.; Brodwin, M.; Bulbul, E.; Canning, R. E. A.; Capasso, R.; Carlstrom, J. E.; Chang, C. L.; Chiu, I.; Cho, H. -M.; Clocchiatti; A. Crawford; T. M.; Crites, A. T.; de Haan, T.; Desai, S.; Dobbs, M. A.; Foley, R. J.; Forman, W. R.; Garmire, G. P.; George, E. M.; Gladders, M. D.; Gonzalez, A. H.; Grandis, S.; Gupta, N.; Halverson, N. W.; Hlavacek-Larrondo, J.; Hoekstra, H.; Holder, G. P.; Holzapfel, W. L.; Hou, Z.; Hrubes, J. D.; Huang, N.; Jones, C.; Khullar, G.; Knox, L.; Kraft, R.; Lee, A. T.; von der Linden, A.; Luong-Van, D.; Mantz, A.; Marrone, D. P.; McDonald, M.; McMahon, J. J.; Meyer, S. S.; Mocanu, L. M.; Mohr, J. J.; Morris, R. G.; Padin, S.; Patil, S.; Pryke, C.; Rapetti, D.; Reichardt, C. L.; Rest, A.; Ruhl, J. E.; Saliwanchik, B. R.; Saro, A.; Sayre, J. T.; Schaffer, K. K.; Shirokoff, E.; Stalder, B.; Stanford, S. A.; Staniszewski, Z.; Stark, A. A.; Story, K. T.; Strazzullo, V.; Stubbs, C. W.; Vanderlinde, K.; Vieira, J. D.; Vikhlinin, A.; Williamson, R.; Zenteno, A.;
handle: 1887/83511 , 11368/2962485
Publisher: arXivCountries: Italy, NetherlandsProject: EC | ClustersXCosmo (716762), NSF | Cosmological Research wit... (1248097), ARC | Discovery Projects - Gran... (DP150103208), NSF | Physics Frontier Center a... (1125897)We derive cosmological constraints using a galaxy cluster sample selected from the 2500~deg$^2$ SPT-SZ survey. The sample spans the redshift range $0.255$. The sample is supplemented with optical weak gravitational lensing measurements of 32 clusters with $0.29
Top 1% in popularityTop 1% in popularityTop 10% in influencePopularity: Citation-based measure reflecting the current impact.Top 10% in influenceInfluence: Citation-based measure reflecting the total impact.add Add to ORCIDPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product. - Publication . Article . Other literature type . 2016Open Access EnglishAuthors:Arjan B. te Pas; Marcus J. Kitchen; Katie Lee; Megan J. Wallace; Andreas Fouras; Robert A. Lewis; Naoto Yagi; Kentaro Uesugi; Stuart B. Hooper;Arjan B. te Pas; Marcus J. Kitchen; Katie Lee; Megan J. Wallace; Andreas Fouras; Robert A. Lewis; Naoto Yagi; Kentaro Uesugi; Stuart B. Hooper;Country: NetherlandsProject: NIH | Facilitating The Physiolo... (1R01HD072848-01A1), ARC | Low dose methods for dete... (DP110101941)
Background: A sustained inflation (SI) facilitates lung aeration, but the most effective pressure and duration are unknown. We investigated the effect of gestational age (GA) and airway liquid volume on the required inflation pressure and SI duration. Methods: Rabbit kittens were delivered at 27, 29, and 30 d gestation, intubated and airway liquid was aspirated. Either no liquid (control) or 30 ml/kg of liquid was returned to the airways. Lung gas volumes were measured by plethysmography and phase-contrast X-ray-imaging. Starting at 22 cmH2O, airway pressure was increased until airflow commenced and pressure was then held constant. The SI was truncated when 20 ml/kg air had entered the lung and ventilation continued with intermittent positive pressure ventilation (iPPV). Results: Higher SI pressures and longer durations were required in 27-d kittens compared to 30-d kittens. During iPPV, 27-d kittens needed higher pressures and had lower functional residual capacity (FRC) compared to 30-d kittens. Adding lung liquid increased SI duration, reduced FRC, and increased resistance and pressures during iPPV in 29- and 30-d kittens. Conclusion: Immature kittens required higher starting pressures and longer SI durations to achieve a set inflation volume. Larger airway liquid volumes adversely affected lung function during iPPV in older but not young kittens.
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You have already added works in your ORCID record related to the merged Research product. - Open AccessAuthors:Wolff, Jonci N.; Pichaud, Nicolas; Camus, Maria F.; Côté, Geneviève; Blier, Pierre U.; Dowling, Damian K.;Wolff, Jonci N.; Pichaud, Nicolas; Camus, Maria F.; Côté, Geneviève; Blier, Pierre U.; Dowling, Damian K.;
doi: 10.5061/dryad.g56f4
Project: NSERC , ARC | Sexual conflict in the mi... (DP1092897)The ancient acquisition of the mitochondrion into the ancestor of modern-day eukaryotes is thought to have been pivotal in facilitating the evolution of complex life. Mitochondria retain their own diminutive genome, with mitochondrial genes encoding core subunits involved in oxidative phosphorylation. Traditionally, it was assumed that there was little scope for genetic variation to accumulate and be maintained within the mitochondrial genome. However, in the past decade, mitochondrial genetic variation has been routinely tied to the expression of life-history traits such as fertility, development and longevity. To examine whether these broad-scale effects on life-history trait expression might ultimately find their root in mitochondrially mediated effects on core bioenergetic function, we measured the effects of genetic variation across twelve different mitochondrial haplotypes on respiratory capacity and mitochondrial quantity in the fruit fly, Drosophila melanogaster. We used strains of flies that differed only in their mitochondrial haplotype, and tested each sex separately at two different adult ages. Mitochondrial haplotypes affected both respiratory capacity and mitochondrial quantity. However, these effects were highly context-dependent, with the genetic effects contingent on both the sex and the age of the flies. These sex- and age-specific genetic effects are likely to resonate across the entire organismal life-history, providing insights into how mitochondrial genetic variation may contribute to sex-specific trajectories of life-history evolution. Alstonville_DryadBarcelona_DryadBrownsville_DryadDahomey_DryadHawaii_DryadIsrael_DryadJapan_DryadMadang_DryadMysore_DryadOregon_DryadPuerto Montt_DryadSweden_Dryad
Average/low popularityAverage/low popularityAverage/low influencePopularity: Citation-based measure reflecting the current impact.Average/low influenceInfluence: Citation-based measure reflecting the total impact.add Add to ORCIDPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product. - Publication . Article . Conference object . 2017Open AccessAuthors:L.A. Burchfield; S. H. K. Luk; Mark Antoniou; Anne Cutler;L.A. Burchfield; S. H. K. Luk; Mark Antoniou; Anne Cutler;Country: NetherlandsProject: ARC | Discovery Projects - Gran... (DP140104389)
Item does not contain fulltext Lexically guided perceptual learni ng refers to the use of lexical knowledge to retune sp eech categories and thereby adapt to a novel talker's pronunciation. This adaptation has been extensively documented, but primarily for segmental-based learning in English and Dutch. In languages with lexical tone, such as Mandarin Chinese, tonal categories can also be retuned in this way, but segmental category retuning had not been studied. We report two experiment s in which Mandarin Chinese listeners were exposed to an ambiguous mixture of [f] and [s] in lexical contexts favoring an interpretation as either [f] or [s]. Listeners were subsequently more likely to identify sounds along a continuum between [f] and [s], and to interpret minimal word pairs, in a manner consistent with this exposure. Thus lexically guided perceptual learning of segmental categories had indeed taken place, consistent with suggestions that such learning may be a universally available adaptation process. Interspeech 2017: Situated interaction (Stockholm, Sweden, August 20-24, 2017)
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You have already added works in your ORCID record related to the merged Research product. - Publication . Article . Other literature type . 2012Open Access EnglishAuthors:Vesna Boraska; Ana Jerončić; Vincenza Colonna; Lorraine Southam; Dale R. Nyholt; Nigel W. Rayner; John R. B. Perry; Daniela Toniolo; Eva Albrecht; Wei Ang; +117 moreVesna Boraska; Ana Jerončić; Vincenza Colonna; Lorraine Southam; Dale R. Nyholt; Nigel W. Rayner; John R. B. Perry; Daniela Toniolo; Eva Albrecht; Wei Ang; Stefania Bandinelli; Maja Barbalić; Inês Barroso; Jacques S. Beckmann; Reiner Biffar; Dorret I. Boomsma; Harry Campbell; Tanguy Corre; Jeanette Erdmann; Tõnu Esko; Krista Fischer; Nora Franceschini; Timothy M. Frayling; Giorgia Girotto; Juan R. González; Tamara B. Harris; Andrew C. Heath; Iris M. Heid; Wolfgang Hoffmann; Albert Hofman; Momoko Horikoshi; Jing Hua Zhao; Anne U. Jackson; Jouke-Jan Hottenga; Antti Jula; Mika Kähönen; Kay-Tee Khaw; Lambertus A. Kiemeney; Norman Klopp; Zoltán Kutalik; Vasiliki Lagou; Lenore J. Launer; Terho Lehtimäki; Mathieu Lemire; Marja-Liisa Lokki; Christina Loley; Jian'an Luan; Massimo Mangino; Irene Mateo Leach; Sarah E. Medland; Evelin Mihailov; Grant W. Montgomery; Gerjan Navis; John P. Newnham; Markku S. Nieminen; Aarno Palotie; Kalliope Panoutsopoulou; Annette Peters; Nicola Pirastu; Ozren Polasek; Karola Rehnström; Samuli Ripatti; Graham R. S. Ritchie; Fernando Rivadeneira; Antonietta Robino; Nilesh J. Samani; So-Youn Shin; Juha Sinisalo; Johannes H. Smit; Nicole Soranzo; Lisette Stolk; Dorine W. Swinkels; Toshiko Tanaka; Alexander Teumer; Anke Tönjes; Michela Traglia; Jaakko Tuomilehto; Armand Valsesia; Wiek H. van Gilst; Joyce B. J. van Meurs; Albert V. Smith; Jorma Viikari; Jacqueline M. Vink; Gérard Waeber; Nicole M. Warrington; Elisabeth Widen; Gonneke Willemsen; Alan F. Wright; Brent W. Zanke; Lina Zgaga; Michael Boehnke; Adamo Pio D'Adamo; Eco J. C. de Geus; Ellen W. Demerath; Martin den Heijer; Johan G. Eriksson; Luigi Ferrucci; Christian Gieger; Vilmundur Gudnason; Caroline Hayward; Christian Hengstenberg; Thomas J. Hudson; Marjo-Riitta Järvelin; Manolis Kogevinas; Ruth J. F. Loos; Nicholas G. Martin; Andres Metspalu; Craig E. Pennell; Brenda W.J.H. Penninx; Markus Perola; Olli T. Raitakari; Veikko Salomaa; Stefan Schreiber; Heribert Schunkert; Tim D. Spector; Michael Stumvoll; André G. Uitterlinden; Sheila Ulivi; Pim van der Harst; Peter Vollenweider; Henry Völzke; Nicholas J. Wareham; H.-Erich Wichmann; James F. Wilson; Igor Rudan; Yali Xue; Eleftheria Zeggini;
doi: 10.1093/hmg/dds304
handle: 11368/2573421 , 11368/2626287 , 1887/98941 , 2066/108028 , 1871/41883 , 20.500.11820/e1d535c3-a892-4b64-94e6-8e6fcd3ead20 , 1765/57275 , 11370/567fe063-d9a9-4fa9-9bc7-fa5faa29dccf
pmc: PMC3471397
pmid: 22843499
Countries: Italy, Croatia, United Kingdom, Switzerland, Italy, United Kingdom, NetherlandsProject: ARC | Quantitative and Molecula... (DP0212016), NIH | HISPANIC SECONDARY STROKE... (1R01MD009164-01), NHMRC | Research Fellowship - Gra... (442915), NWO | Cluster computing in gene... (480-05-003), WT | The genetics of weight, B... (076113), NHMRC | Genetics of melanoma risk... (241944), NWO | Twin-family database for ... (480-04-004), NIH | From GWAS loci to blood p... (5R01HL086694-11), NIH | GWA for Gene-Environment ... (5U01HG004402-02), AKA | DOHaD-Pubertal growth and... (129287),...Item does not contain fulltext The male-to-female sex ratio at birth is constant across world populations with an average of 1.06 (106 male to 100 female live births) for populations of European descent. The sex ratio is considered to be affected by numerous biological and environmental factors and to have a heritable component. The aim of this study was to investigate the presence of common allele modest effects at autosomal and chromosome X variants that could explain the observed sex ratio at birth. We conducted a large-scale genome-wide association scan (GWAS) meta-analysis across 51 studies, comprising overall 114 863 individuals (61 094 women and 53 769 men) of European ancestry and 2 623 828 common (minor allele frequency >0.05) single-nucleotide polymorphisms (SNPs). Allele frequencies were compared between men and women for directly-typed and imputed variants within each study. Forward-time simulations for unlinked, neutral, autosomal, common loci were performed under the demographic model for European populations with a fixed sex ratio and a random mating scheme to assess the probability of detecting significant allele frequency differences. We do not detect any genome-wide significant (P < 5 x 10(-8)) common SNP differences between men and women in this well-powered meta-analysis. The simulated data provided results entirely consistent with these findings. This large-scale investigation across approximately 115 000 individuals shows no detectable contribution from common genetic variants to the observed skew in the sex ratio. The absence of sex-specific differences is useful in guiding genetic association study design, for example when using mixed controls for sex-biased traits.
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You have already added works in your ORCID record related to the merged Research product. - Publication . Preprint . Article . 2020Open AccessAuthors:Anishya Harshan; Anshu Gupta; Kim-Vy Tran; Leo Y. Alcorn; Tiantian Yuan; Glenn G. Kacprzak; Themiya Nanayakkara; Karl Glazebrook; Lisa J. Kewley; Ivo Labbé; +1 moreAnishya Harshan; Anshu Gupta; Kim-Vy Tran; Leo Y. Alcorn; Tiantian Yuan; Glenn G. Kacprzak; Themiya Nanayakkara; Karl Glazebrook; Lisa J. Kewley; Ivo Labbé; Casey Papovich;
handle: 1887/3134394
Publisher: American Astronomical SocietyCountry: NetherlandsProject: NSF | At the Turn of the Tide: ... (1410728), ARC | Discovery Projects - Gran... (DP170103470)The global star formation rates (SFR) of galaxies at fixed stellar masses increase with redshift and are known to vary with environment unto z~2. We explore here whether the changes in the star formation rates can also apply to the electron densities of the inter-stellar medium (ISM) by measuring the [OII] (3727A/3729A) ratio for cluster and field galaxies at z~2. We measure a median electron density of ne = 366+/-84 cm-3 for six galaxies (with 1-sigma scatter = 163 cm-3) in the UDS proton-cluster at z=1.62. We find that the median electron density of galaxies in the UDS photo-cluster environment is three times higher compared to the median electron density of field galaxies (ne = 113+/- 63 cm-3 and 1-sigma scatter = 79 cm-3) at comparable redshifts, stellar mass and SFR. However, we note that a sample of six photo-cluster galaxies is insufficient to reliably measure the electron density in the average porto-cluster environment at z~2. We conclude that the electron density increases with redshift in both cluster and field environments up to z~2 (ne = 30 +/- 1 cm-3 for z ~ 0 to ne =254+/- 76 cm-3 for z~1.5). We find tentative evidence (~2.6 sigma ) for a possible dependence of electron density on environment, but the results require confirmation with larger sample sizes. 18 Pages, 6 figures, 3 tables, Accepted for publication in Astrophysical Journal
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You have already added works in your ORCID record related to the merged Research product. - Publication . Article . Other literature type . 2015Open AccessAuthors:Winkler, Thomas W; Justice, Anne E; Graff, Mariaelisa; Barata, Llilda; Feitosa, Mary F; Chu, Su; Czajkowski, Jacek; Esko, Tõnu; Fall, Tove; Kilpeläinen, Tuomas O; +190 moreWinkler, Thomas W; Justice, Anne E; Graff, Mariaelisa; Barata, Llilda; Feitosa, Mary F; Chu, Su; Czajkowski, Jacek; Esko, Tõnu; Fall, Tove; Kilpeläinen, Tuomas O; Lu, Yingchang; Mägi, Reedik; Mihailov, Evelin; Pers, Tune H; Rüeger, Sina; Teumer, Alexander; Ehret, Georg B; Ferreira, Teresa; Heard-Costa, Nancy L; Karjalainen, Juha; Lagou, Vasiliki; Mahajan, Anubha; Neinast, Michael D; Prokopenko, Inga; Simino, Jeannette; Teslovich, Tanya M; Jansen, Rick; Westra, Harm-Jan; White, Charles C; Absher, Devin; Ahluwalia, Tarunveer S; Ahmad, Shafqat; Albrecht, Eva; Alves, Alexessander Couto; Bragg-Gresham, Jennifer L; de Craen, Anton JM; Bis, Joshua C; Bonnefond, Amélie; Boucher, Gabrielle; Cadby, Gemma; Cheng, Yu-Ching; Chiang, Charleston WK; Delgado, Graciela; Demirkan, Ayse; Dueker, Nicole; Eklund, Niina; Eiriksdottir, Gudny; Eriksson, Joel; Feenstra, Bjarke; Fischer, Krista; Frau, Francesca; Galesloot, Tessel E; Geller, Frank; Goel, Anuj; Gorski, Mathias; Grammer, Tanja B; Gustafsson, Stefan; Haitjema, Saskia; Hottenga, Jouke-Jan; Huffman, Jennifer E; Jackson, Anne U; Jacobs, Kevin B; Johansson, Åsa; Kaakinen, Marika; Kleber, Marcus E; Lahti, Jari; Mateo Leach, Irene; Lehne, Benjamin; Liu, Youfang; Lo, Ken Sin; Lorentzon, Mattias; Luan, Jian'an; Madden, Pamela AF; Mangino, Massimo; McKnight, Barbara; Medina-Gomez, Carolina; Monda, Keri L; Montasser, May E; Müller, Gabriele; Müller-Nurasyid, Martina; Nolte, Ilja M; Panoutsopoulou, Kalliope; Pascoe, Laura; Paternoster, Lavinia; Rayner, Nigel W; Renström, Frida; Rizzi, Federica; Rose, Lynda M; Ryan, Kathy A; Salo, Perttu; Sanna, Serena; Scharnagl, Hubert; Shi, Jianxin; Smith, Albert Vernon; Southam, Lorraine; Stančáková, Alena; Steinthorsdottir, Valgerdur; Strawbridge, Rona J; Sung, Yun Ju; Tachmazidou, Ioanna; Tanaka, Toshiko; Thorleifsson, Gudmar; Trompet, Stella; Pervjakova, Natalia; Tyrer, Jonathan P; Vandenput, Liesbeth; van der Laan, Sander W; van der Velde, Nathalie; van Setten, Jessica; van Vliet-Ostaptchouk, Jana V; Verweij, Niek; Vlachopoulou, Efthymia; Waite, Lindsay L; Wang, Sophie R; Wang, Zhaoming; Wild, Sarah H; Willenborg, Christina; Wilson, James F; Wong, Andrew; Yang, Jian; Yengo, Loïc; Yerges-Armstrong, Laura M; Yu, Lei; Zhang, Weihua; Zhao, Jing Hua; Andersson, Ehm A; Bakker, Stephan JL; Baldassarre, Damiano; Banasik, Karina; Barcella, Matteo; Barlassina, Cristina; Bellis, Claire; Benaglio, Paola; Blangero, John; Blüher, Matthias; Bonnet, Fabrice; Bonnycastle, Lori L; Boyd, Heather A; Bruinenberg, Marcel; Buchman, Aron S; Campbell, Harry; Chen, Yii-Der Ida; Chines, Peter S; Claudi-Boehm, Simone; Cole, John; Collins, Francis S; de Geus, Eco JC; de Groot, Lisette CPGM; Dimitriou, Maria; Duan, Jubao; Enroth, Stefan; Eury, Elodie; Farmaki, Aliki-Eleni; Forouhi, Nita G; Friedrich, Nele; Gejman, Pablo V; Gigante, Bruna; Glorioso, Nicola; Go, Alan S; Gottesman, Omri; Gräßler, Jürgen; Grallert, Harald; Grarup, Niels; Gu, Yu-Mei; Broer, Linda; Ham, Annelies C; Hansen, Torben; Harris, Tamara B; Hartman, Catharina A; Hassinen, Maija; Hastie, Nicholas; Hattersley, Andrew T; Heath, Andrew C; Henders, Anjali K; Hernandez, Dena; Hillege, Hans; Holmen, Oddgeir; Hovingh, Kees G; Hui, Jennie; Husemoen, Lise L; Hutri-Kähönen, Nina; Hysi, Pirro G; Illig, Thomas; De Jager, Philip L; Jalilzadeh, Shapour; Jørgensen, Torben; Jukema, J Wouter; Juonala, Markus; Kanoni, Stavroula; Karaleftheri, Maria; Khaw, Kay Tee; Kinnunen, Leena; Kittner, Steven J; Koenig, Wolfgang; Kolcic, Ivana; Kovacs, Peter; Krarup, Nikolaj T; Kratzer, Wolfgang; Krüger, Janine; Kuh, Diana;
pmc: PMC4591371 , PMC4927064
Countries: Switzerland, United Kingdom, Sweden, Italy, France, United Kingdom, United Kingdom, Sweden, France, Netherlands ...Project: EC | ENGAGE (201413), NIH | CHARGE consortium: gene d... (2R01HL105756-07), NIH | Institute for Clinical an... (3UL1RR025005-03S2), WT | Genetic investigation of ... (088869), NWO | Dissecting genetic comple... (047.017.043), NIH | FIELD CENTER FOR CCSP (N01HC055019-009), AKA | Preterm birth and childho... (134791), NIH | Genome-wide Search for CV... (5U01HL072515-06), NIH | PERSISTENCE &CHANGE IN DR... (1R01AA007535-01A1), NIH | Genetic Influences on ADH... (1R01MH063706-01),...Genome-wide association studies (GWAS) have identified more than 100 genetic variants contributing to BMI, a measure of body size, or waist-to-hip ratio (adjusted for BMI, WHRadjBMI), a measure of body shape. Body size and shape change as people grow older and these changes differ substantially between men and women. To systematically screen for age- and/or sex-specific effects of genetic variants on BMI and WHRadjBMI, we performed meta-analyses of 114 studies (up to 320,485 individuals of European descent) with genome-wide chip and/or Metabochip data by the Genetic Investigation of Anthropometric Traits (GIANT) Consortium. Each study tested the association of up to ~2.8M SNPs with BMI and WHRadjBMI in four strata (men ≤50y, men >50y, women ≤50y, women >50y) and summary statistics were combined in stratum-specific meta-analyses. We then screened for variants that showed age-specific effects (G x AGE), sex-specific effects (G x SEX) or age-specific effects that differed between men and women (G x AGE x SEX). For BMI, we identified 15 loci (11 previously established for main effects, four novel) that showed significant (FDR<5%) age-specific effects, of which 11 had larger effects in younger (<50y) than in older adults (≥50y). No sex-dependent effects were identified for BMI. For WHRadjBMI, we identified 44 loci (27 previously established for main effects, 17 novel) with sex-specific effects, of which 28 showed larger effects in women than in men, five showed larger effects in men than in women, and 11 showed opposite effects between sexes. No age-dependent effects were identified for WHRadjBMI. This is the first genome-wide interaction meta-analysis to report convincing evidence of age-dependent genetic effects on BMI. In addition, we confirm the sex-specificity of genetic effects on WHRadjBMI. These results may provide further insights into the biology that underlies weight change with age or the sexually dimorphism of body shape. Author Summary Adult body size and body shape differ substantially between men and women and change over time. More than 100 genetic variants that influence body mass index (measure of body size) or waist-to-hip ratio (measure of body shape) have been identified. While there is evidence that some genetic loci affect body shape differently in men than in women, little is known about whether genetic effects differ in older compared to younger adults, and whether such changes differ between men and women. Therefore, we conducted a systematic genome-wide search, including 114 studies (>320,000 individuals), to specifically identify genetic loci with age- and or sex-dependent effects on body size and shape. We identified 15 loci of which the effect on BMI was different in older compared to younger adults, whereas we found no evidence for loci with different effects in men compared to women. The opposite was seen for body shape as we identified 44 loci of which the effect on waist-to-hip ratio differed between men and women, but no difference between younger and older adults were observed. Our observations may provide new insights into the biology that underlies weight change with age or the sexual dimorphism of body shape.
Top 10% in popularityTop 10% in popularityTop 10% in influencePopularity: Citation-based measure reflecting the current impact.Top 10% in influenceInfluence: Citation-based measure reflecting the total impact.add Add to ORCIDPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product. - Publication . Article . Preprint . Other literature type . 2019Open Access EnglishAuthors:Bin Ren; Elodie Choquet; Marshall D. Perrin; Gaspard Duchene; John H. Debes; Laurent Pueyo; Malena Rice; Christine Chen; Glenn Schneider; Thomas M. Esposito; +63 moreBin Ren; Elodie Choquet; Marshall D. Perrin; Gaspard Duchene; John H. Debes; Laurent Pueyo; Malena Rice; Christine Chen; Glenn Schneider; Thomas M. Esposito; Charles A. Poteet; Jason J. Wang; S. Mark Ammons; Megan Ansdell; Pauline Arriaga; Vanessa P. Bailey; Travis Barman; Juan Sebastián Bruzzone; Joanna Bulger; Jeffrey Chilcote; Tara Cotten; Robert J. De Rosa; René Doyon; Michael P. Fitzgerald; Katherine B. Follette; Stephen J. Goodsell; Benjamin L. Gerard; James R. Graham; Alexandra Z. Greenbaum; J. Brendan Hagan; Pascale Hibon; Dean C. Hines; Li-Wei Hung; Patrick Ingraham; Paul Kalas; Quinn Konopacky; James E. Larkin; Bruce Macintosh; Jérôme Maire; Franck Marchis; Christian Marois; Johan Mazoyer; Francois Menard; Stanimir Metchev; Maxwell A. Millar-Blanchaer; Tushar Mittal; Magaret Moerchen; Eric L. Nielsen; Mamadou N'Diaye; Rebecca Oppenheimer; D. M. Palmer; Jennifer Patience; Christophe Pinte; Lisa Poyneer; Abhijith Rajan; Julien Rameau; Fredrik T. Rantakyrö; Jean-Baptiste Ruffio; Dominic M. Ryan; Dmitry Savransky; Adam C. Schneider; Anand Sivaramakrishnan; Inseok Song; Rémi Soummer; Christopher C. Stark; Sandrine Thomas; Arthur Vigan; J. Kent Wallace; Kimberly Ward-Duong; Sloane Wiktorowicz; Schuyler Wolff; Marie Ygouf; Colin Norman;
handle: 1887/84959
Countries: Netherlands, Netherlands, Canada, United States, France, NetherlandsProject: ARC | Discovery Projects - Gran... (DP180104235), NSF | First-Light Debris Disk S... (1413718), NSF | Direct detection and char... (1518332), ARC | ARC Future Fellowships - ... (FT170100040)We have obtained Hubble Space Telescope STIS and NICMOS, and Gemini/GPI scattered light images of the HD 191089 debris disk. We identify two spatial components: a ring resembling Kuiper Belt in radial extent (FWHM: ${\sim}$25 au, centered at ${\sim}$46 au), and a halo extending to ${\sim}$640 au. We find that the halo is significantly bluer than the ring, consistent with the scenario that the ring serves as the "birth ring" for the smaller dust in the halo. We measure the scattering phase functions in the 30{\deg}-150{\deg} scattering angle range and find the halo dust is both more forward- and backward-scattering than the ring dust. We measure a surface density power law index of -0.68${\pm}$0.04 for the halo, which indicates the slow-down of the radial outward motion of the dust. Using radiative transfer modeling, we attempt to simultaneously reproduce the (visible) total and (near-infrared) polarized intensity images of the birth ring. Our modeling leads to mutually inconsistent results, indicating that more complex models, such as the inclusion of more realistic aggregate particles, are needed. Comment: 29 pages, 18 figures, ApJ accepted
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You have already added works in your ORCID record related to the merged Research product. - Publication . Article . Other literature type . 2010Open AccessAuthors:Hana Lango Allen; Karol Estrada; Michael N. Weedon; Fernando Rivadeneira; Cristen J. Willer; Anne U. Jackson; Sailaja Vedantam; Soumya Raychaudhuri; Andrew R. Wood; Robert J. Weyant; +199 moreHana Lango Allen; Karol Estrada; Michael N. Weedon; Fernando Rivadeneira; Cristen J. Willer; Anne U. Jackson; Sailaja Vedantam; Soumya Raychaudhuri; Andrew R. Wood; Robert J. Weyant; Elizabeth K. Speliotes; Eleanor Wheeler; Nicole Soranzo; Ju-Hyun Park; Jian Yang; Daniel F. Gudbjartsson; Nancy L. Heard-Costa; Albert V. Smith; Reedik Mägi; Tomi Pastinen; Liming Liang; Iris M. Heid; Thomas W. Winkler; Michael E. Goddard; Cameron D. Palmer; Tsegaselassie Workalemahu; Yurii S. Aulchenko; Åsa Johansson; Mary F. Feitosa; Tõnu Esko; Toby Johnson; Peter Kraft; Massimo Mangino; Inga Prokopenko; Devin Absher; Eva Albrecht; Florian Ernst; Nicole L. Glazer; Caroline Hayward; Jouke-Jan Hottenga; Kevin B. Jacobs; Ozren Polasek; Michael Preuss; Nigel W. Rayner; Neil R. Robertson; Valgerdur Steinthorsdottir; Jonathan Tyrer; Benjamin F. Voight; Dale R. Nyholt; Niina Pellikka; Ida Surakka; Mari Liis Tammesoo; Najaf Amin; Thor Aspelund; Tushar Bhangale; Gabrielle Boucher; Lachlan J. M. Coin; Mark E. Cooper; Quince Gibson; Elin Grundberg; M. Juhani Junttila; Lee M. Kaplan; Johannes Kettunen; Inke R. König; Tony Kwan; Douglas F. Levinson; Mattias Lorentzon; Barbara McKnight; Andrew P. Morris; Martina Müller; Shaun Purcell; Rany M. Salem; Erika Salvi; Serena Sanna; Jianxin Shi; Ulla Sovio; Michael C. Turchin; Liesbeth Vandenput; Veronique Vitart; Andreas Ziegler; Harry Campbell; Lorena Citterio; Alessandro De Grandi; Anna F. Dominiczak; Paul Elliott; Roberto Elosua; Johan G. Eriksson; Nelson B. Freimer; Eco J. C. de Geus; Nicola Glorioso; Shen Haiqing; Anna-Liisa Hartikainen; Aki S. Havulinna; Andrew A. Hicks; Jennie Hui; Wilmar Igl; Antti Jula; Markku Koiranen; Ivana Kolcic; Peter Kovacs; Jaana Laitinen; Jianjun Liu; Marja-Liisa Lokki; Andrea Maschio; Thomas Meitinger; Antonella Mulas; Guillaume Paré; Alex N. Parker; John F. Peden; Irene Pichler; Kirsi H. Pietiläinen; Martin Ridderstråle; Jennifer G. Sambrook; Alan R. Sanders; Carsten Oliver Schmidt; Juha Sinisalo; Jan Smit; Heather M. Stringham; Elisabeth Widen; Sarah H. Wild; Gonneke Willemsen; Laura Zagato; Lina Zgaga; Paavo Zitting; Martin Farrall; Wendy L. McArdle; Mari Nelis; Marjolein J. Peters; Joyce B. J. van Meurs; Kristin G. Ardlie; John Beilby; Richard N. Bergman; Sven Bergmann; Martin den Heijer; Alistair S. Hall; Anders Hamsten; Carlos Iribarren; Mika Kähönen; Jaakko Kaprio; Sekar Kathiresan; Lambertus A. Kiemeney; Lenore J. Launer; Terho Lehtimäki; Olle Melander; Markku S. Nieminen; Christopher J. O'Donnell; Claes Ohlsson; Ben A. Oostra; Paul M. Ridker; John D. Rioux; Aila Rissanen; Carlo Rivolta; Heribert Schunkert; Alan R. Shuldiner; Michael Stumvoll; Gert-Jan B. van Ommen; Jorma Viikari; Nicholas G. Martin; Grant W. Montgomery; Michael A. Province; Manfred Kayser; Larry D. Atwood; Eric Boerwinkle; Panos Deloukas; Christian Gieger; Per Hall; Andrew T. Hattersley; Stefan Schreiber; Manuela Uda; Dawn M. Waterworth; Alan F. Wright; Themistocles L. Assimes; Inês Barroso; Albert Hofman; Dorret I. Boomsma; Jeanette Erdmann; Caroline S. Fox; Vilmundur Gudnason; Tamara B. Harris; Richard B. Hayes; Marjo-Riitta Järvelin; Vincent Mooser; Patricia B. Munroe; Willem H. Ouwehand; Brenda W.J.H. Penninx; Peter P. Pramstaller; Thomas Quertermous; Igor Rudan; Nilesh J. Samani; Tim D. Spector; Hugh Watkins; James F. Wilson; Talin Haritunians; Frank B. Hu; Robert C. Kaplan; David Schlessinger; Nicholas J. Wareham; Jeffrey R. O'Connell; H.-Erich Wichmann; Cornelia M. van Duijn; André G. Uitterlinden; Peter M. Visscher; Nilanjan Chatterjee; Ruth J. F. Loos; Mark I. McCarthy; Cecilia M. Lindgren; Gonçalo R. Abecasis; Kari Stefansson; Joel N. Hirschhorn;
handle: 1765/27468 , 1871/34162 , 1887/108473 , 2066/88266 , 11370/51b1c02a-435a-4bfe-bd28-b1ecab3abfb5
pmid: 20881960
pmc: PMC2955183
handle: 1765/27468 , 1871/34162 , 1887/108473 , 2066/88266 , 11370/51b1c02a-435a-4bfe-bd28-b1ecab3abfb5
pmid: 20881960
pmc: PMC2955183
Publisher: Springer Science and Business Media LLCCountries: Switzerland, Netherlands, France, United Kingdom, France, United KingdomProject: NIH | Molecular Epidemiology of... (1R01AA013326-01), NIH | GENOTYPING FOR LOCATING H... (N01HG065403-001), AKA | Public Health Genomics to... (129494), NIH | AN NCRR CENTER FOR HIGH T... (5U54RR020278-04), NIH | Genetic determinants of p... (1R01CA104021-01A2), NIH | COMMUNITY AND COHORT SURV... (N01HC055015-028), NIH | Genetics of cardiovascula... (5R01HL087679-02), ARC | Maximising knowledge from... (DP0770096), NIH | TRIAL OF ASPIRIN AND VITA... (5R01CA047988-10), NIH | Type 1 Diabetes Genetics ... (1U01DK062418-01),...Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits1, but these typically explain small fractions of phenotypic variation, raising questions about the use of further studies. Here, using 183,727 individuals, we show that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait2,3. The large number of loci reveals patterns with important implications for genetic studies of common human diseases and traits. First, the 180 loci are not random, but instead are enriched for genes that are connected in biological pathways ( P=0.016) and that underlie skeletal growth defects ( P<0.001). Second, the likely causal gene is often located near the most strongly associated variant: in 13 of 21 loci containing a known skeletal growth gene, that gene was closest to the associated variant. Third, at least 19 loci have multiple independently associated variants, suggesting that allelic heterogeneity is a frequent feature of polygenic traits, that comprehensive explorations of alreadydiscovered loci should discover additional variants and that an appreciable fraction of associated loci may have been identified. Fourth, associated variants are enriched for likely functional effects on genes, being over-represented among variants that alter amino-acid structure of proteins and expression levels of nearby genes. Our data explain approximately 10% of the phenotypic variation in height, and we estimate that unidentified common variants of similar effect sizes would increase this figure to approximately 16% of phenotypic variation (approximately 20% of heritable variation). Although additional approaches are needed to dissect the genetic architecture of polygenic human traits fully, our findings indicate that GWA studies can identify large numbers of loci that implicate biologically relevant genes and pathways. © 2010 Macmillan Publishers Limited. All rights reserved.
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- Publication . Article . 2016Open Access EnglishAuthors:Dammers, E.; Palm, M.; Van Damme, M.; Vigouroux, C.; Smale, D.; Conway, S.; Toon, G.C.; Jones, N.; Nussbaumer, E.; Warneke, T.; +17 moreDammers, E.; Palm, M.; Van Damme, M.; Vigouroux, C.; Smale, D.; Conway, S.; Toon, G.C.; Jones, N.; Nussbaumer, E.; Warneke, T.; Petri, C.; Clarisse, L.; Clerbaux, C.; Hermans, C.; Lutsch, E.; Strong, K.; Hannigan, J.W.; Nakajima, H.; Morino, I.; Herrera, B.; Stremme, W.; Grutter, M.; Schaap, M.; Kruit, R.J.W.; Notholt, J.; Coheur, P.F.; Erisman, J.W.;Countries: France, Belgium, Netherlands, FranceProject: NSERC , ARC | Tropospheric ozone and ai... (DP110101948), ARC | High resolution Fourier t... (LE0668470)
Global distributions of atmospheric ammonia (NH3) measured with satellite instruments such as the Infrared Atmospheric Sounding Interferometer (IASI) contain valuable information on NH3 concentrations and variability in regions not yet covered by ground-based instruments. Due to their large spatial coverage and (bi-)daily overpasses, the satellite observations have the potential to increase our knowledge of the distribution of NH3 emissions and associated seasonal cycles. However the observations remain poorly validated, with only a handful of available studies often using only surface measurements without any vertical information. In this study, we present the first validation of the IASI-NH3 product using ground-based Fourier transform infrared spectroscopy (FTIR) observations. Using a recently developed consistent retrieval strategy, NH3 concentration profiles have been retrieved using observations from nine Network for the Detection of Atmospheric Composition Change (NDACC) stations around the world between 2008 and 2015. We demonstrate the importance of strict spatio-temporal collocation criteria for the comparison. Large differences in the regression results are observed for changing intervals of spatial criteria, mostly due to terrain characteristics and the short lifetime of NH3 in the atmosphere. The seasonal variations of both datasets are consistent for most sites. Correlations are found to be high at sites in areas with considerable NH3 levels, whereas correlations are lower at sites with low atmospheric NH3 levels close to the detection limit of the IASI instrument. A combination of the observations from all sites (Nobs Combining double low line 547) give a mean relative difference of ĝ'32.4ĝ€±ĝ€(56.3)ĝ€%, a correlation r of 0.8 with a slope of 0.73. These results give an improved estimate of the IASI-NH3 product performance compared to the previous upper-bound estimates (-50 to +100%).
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You have already added works in your ORCID record related to the merged Research product. - Publication . Preprint . Article . 2019 . Embargo End Date: 01 Jan 2018Open AccessAuthors:Bocquet, S.; Dietrich, J. P.; Schrabback, T.; Bleem, L. E.; Klein, M.; Allen, S. W.; Applegate, D. E.; Ashby, M. L. N.; Bautz, M.; Bayliss, M.; +71 moreBocquet, S.; Dietrich, J. P.; Schrabback, T.; Bleem, L. E.; Klein, M.; Allen, S. W.; Applegate, D. E.; Ashby, M. L. N.; Bautz, M.; Bayliss, M.; Benson, B. A.; Brodwin, M.; Bulbul, E.; Canning, R. E. A.; Capasso, R.; Carlstrom, J. E.; Chang, C. L.; Chiu, I.; Cho, H. -M.; Clocchiatti; A. Crawford; T. M.; Crites, A. T.; de Haan, T.; Desai, S.; Dobbs, M. A.; Foley, R. J.; Forman, W. R.; Garmire, G. P.; George, E. M.; Gladders, M. D.; Gonzalez, A. H.; Grandis, S.; Gupta, N.; Halverson, N. W.; Hlavacek-Larrondo, J.; Hoekstra, H.; Holder, G. P.; Holzapfel, W. L.; Hou, Z.; Hrubes, J. D.; Huang, N.; Jones, C.; Khullar, G.; Knox, L.; Kraft, R.; Lee, A. T.; von der Linden, A.; Luong-Van, D.; Mantz, A.; Marrone, D. P.; McDonald, M.; McMahon, J. J.; Meyer, S. S.; Mocanu, L. M.; Mohr, J. J.; Morris, R. G.; Padin, S.; Patil, S.; Pryke, C.; Rapetti, D.; Reichardt, C. L.; Rest, A.; Ruhl, J. E.; Saliwanchik, B. R.; Saro, A.; Sayre, J. T.; Schaffer, K. K.; Shirokoff, E.; Stalder, B.; Stanford, S. A.; Staniszewski, Z.; Stark, A. A.; Story, K. T.; Strazzullo, V.; Stubbs, C. W.; Vanderlinde, K.; Vieira, J. D.; Vikhlinin, A.; Williamson, R.; Zenteno, A.;
handle: 1887/83511 , 11368/2962485
Publisher: arXivCountries: Italy, NetherlandsProject: EC | ClustersXCosmo (716762), NSF | Cosmological Research wit... (1248097), ARC | Discovery Projects - Gran... (DP150103208), NSF | Physics Frontier Center a... (1125897)We derive cosmological constraints using a galaxy cluster sample selected from the 2500~deg$^2$ SPT-SZ survey. The sample spans the redshift range $0.255$. The sample is supplemented with optical weak gravitational lensing measurements of 32 clusters with $0.29
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You have already added works in your ORCID record related to the merged Research product. - Publication . Article . Other literature type . 2016Open Access EnglishAuthors:Arjan B. te Pas; Marcus J. Kitchen; Katie Lee; Megan J. Wallace; Andreas Fouras; Robert A. Lewis; Naoto Yagi; Kentaro Uesugi; Stuart B. Hooper;Arjan B. te Pas; Marcus J. Kitchen; Katie Lee; Megan J. Wallace; Andreas Fouras; Robert A. Lewis; Naoto Yagi; Kentaro Uesugi; Stuart B. Hooper;Country: NetherlandsProject: NIH | Facilitating The Physiolo... (1R01HD072848-01A1), ARC | Low dose methods for dete... (DP110101941)
Background: A sustained inflation (SI) facilitates lung aeration, but the most effective pressure and duration are unknown. We investigated the effect of gestational age (GA) and airway liquid volume on the required inflation pressure and SI duration. Methods: Rabbit kittens were delivered at 27, 29, and 30 d gestation, intubated and airway liquid was aspirated. Either no liquid (control) or 30 ml/kg of liquid was returned to the airways. Lung gas volumes were measured by plethysmography and phase-contrast X-ray-imaging. Starting at 22 cmH2O, airway pressure was increased until airflow commenced and pressure was then held constant. The SI was truncated when 20 ml/kg air had entered the lung and ventilation continued with intermittent positive pressure ventilation (iPPV). Results: Higher SI pressures and longer durations were required in 27-d kittens compared to 30-d kittens. During iPPV, 27-d kittens needed higher pressures and had lower functional residual capacity (FRC) compared to 30-d kittens. Adding lung liquid increased SI duration, reduced FRC, and increased resistance and pressures during iPPV in 29- and 30-d kittens. Conclusion: Immature kittens required higher starting pressures and longer SI durations to achieve a set inflation volume. Larger airway liquid volumes adversely affected lung function during iPPV in older but not young kittens.
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You have already added works in your ORCID record related to the merged Research product. - Open AccessAuthors:Wolff, Jonci N.; Pichaud, Nicolas; Camus, Maria F.; Côté, Geneviève; Blier, Pierre U.; Dowling, Damian K.;Wolff, Jonci N.; Pichaud, Nicolas; Camus, Maria F.; Côté, Geneviève; Blier, Pierre U.; Dowling, Damian K.;
doi: 10.5061/dryad.g56f4
Project: NSERC , ARC | Sexual conflict in the mi... (DP1092897)The ancient acquisition of the mitochondrion into the ancestor of modern-day eukaryotes is thought to have been pivotal in facilitating the evolution of complex life. Mitochondria retain their own diminutive genome, with mitochondrial genes encoding core subunits involved in oxidative phosphorylation. Traditionally, it was assumed that there was little scope for genetic variation to accumulate and be maintained within the mitochondrial genome. However, in the past decade, mitochondrial genetic variation has been routinely tied to the expression of life-history traits such as fertility, development and longevity. To examine whether these broad-scale effects on life-history trait expression might ultimately find their root in mitochondrially mediated effects on core bioenergetic function, we measured the effects of genetic variation across twelve different mitochondrial haplotypes on respiratory capacity and mitochondrial quantity in the fruit fly, Drosophila melanogaster. We used strains of flies that differed only in their mitochondrial haplotype, and tested each sex separately at two different adult ages. Mitochondrial haplotypes affected both respiratory capacity and mitochondrial quantity. However, these effects were highly context-dependent, with the genetic effects contingent on both the sex and the age of the flies. These sex- and age-specific genetic effects are likely to resonate across the entire organismal life-history, providing insights into how mitochondrial genetic variation may contribute to sex-specific trajectories of life-history evolution. Alstonville_DryadBarcelona_DryadBrownsville_DryadDahomey_DryadHawaii_DryadIsrael_DryadJapan_DryadMadang_DryadMysore_DryadOregon_DryadPuerto Montt_DryadSweden_Dryad
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You have already added works in your ORCID record related to the merged Research product. - Publication . Article . Conference object . 2017Open AccessAuthors:L.A. Burchfield; S. H. K. Luk; Mark Antoniou; Anne Cutler;L.A. Burchfield; S. H. K. Luk; Mark Antoniou; Anne Cutler;Country: NetherlandsProject: ARC | Discovery Projects - Gran... (DP140104389)
Item does not contain fulltext Lexically guided perceptual learni ng refers to the use of lexical knowledge to retune sp eech categories and thereby adapt to a novel talker's pronunciation. This adaptation has been extensively documented, but primarily for segmental-based learning in English and Dutch. In languages with lexical tone, such as Mandarin Chinese, tonal categories can also be retuned in this way, but segmental category retuning had not been studied. We report two experiment s in which Mandarin Chinese listeners were exposed to an ambiguous mixture of [f] and [s] in lexical contexts favoring an interpretation as either [f] or [s]. Listeners were subsequently more likely to identify sounds along a continuum between [f] and [s], and to interpret minimal word pairs, in a manner consistent with this exposure. Thus lexically guided perceptual learning of segmental categories had indeed taken place, consistent with suggestions that such learning may be a universally available adaptation process. Interspeech 2017: Situated interaction (Stockholm, Sweden, August 20-24, 2017)
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You have already added works in your ORCID record related to the merged Research product. - Publication . Article . Other literature type . 2012Open Access EnglishAuthors:Vesna Boraska; Ana Jerončić; Vincenza Colonna; Lorraine Southam; Dale R. Nyholt; Nigel W. Rayner; John R. B. Perry; Daniela Toniolo; Eva Albrecht; Wei Ang; +117 moreVesna Boraska; Ana Jerončić; Vincenza Colonna; Lorraine Southam; Dale R. Nyholt; Nigel W. Rayner; John R. B. Perry; Daniela Toniolo; Eva Albrecht; Wei Ang; Stefania Bandinelli; Maja Barbalić; Inês Barroso; Jacques S. Beckmann; Reiner Biffar; Dorret I. Boomsma; Harry Campbell; Tanguy Corre; Jeanette Erdmann; Tõnu Esko; Krista Fischer; Nora Franceschini; Timothy M. Frayling; Giorgia Girotto; Juan R. González; Tamara B. Harris; Andrew C. Heath; Iris M. Heid; Wolfgang Hoffmann; Albert Hofman; Momoko Horikoshi; Jing Hua Zhao; Anne U. Jackson; Jouke-Jan Hottenga; Antti Jula; Mika Kähönen; Kay-Tee Khaw; Lambertus A. Kiemeney; Norman Klopp; Zoltán Kutalik; Vasiliki Lagou; Lenore J. Launer; Terho Lehtimäki; Mathieu Lemire; Marja-Liisa Lokki; Christina Loley; Jian'an Luan; Massimo Mangino; Irene Mateo Leach; Sarah E. Medland; Evelin Mihailov; Grant W. Montgomery; Gerjan Navis; John P. Newnham; Markku S. Nieminen; Aarno Palotie; Kalliope Panoutsopoulou; Annette Peters; Nicola Pirastu; Ozren Polasek; Karola Rehnström; Samuli Ripatti; Graham R. S. Ritchie; Fernando Rivadeneira; Antonietta Robino; Nilesh J. Samani; So-Youn Shin; Juha Sinisalo; Johannes H. Smit; Nicole Soranzo; Lisette Stolk; Dorine W. Swinkels; Toshiko Tanaka; Alexander Teumer; Anke Tönjes; Michela Traglia; Jaakko Tuomilehto; Armand Valsesia; Wiek H. van Gilst; Joyce B. J. van Meurs; Albert V. Smith; Jorma Viikari; Jacqueline M. Vink; Gérard Waeber; Nicole M. Warrington; Elisabeth Widen; Gonneke Willemsen; Alan F. Wright; Brent W. Zanke; Lina Zgaga; Michael Boehnke; Adamo Pio D'Adamo; Eco J. C. de Geus; Ellen W. Demerath; Martin den Heijer; Johan G. Eriksson; Luigi Ferrucci; Christian Gieger; Vilmundur Gudnason; Caroline Hayward; Christian Hengstenberg; Thomas J. Hudson; Marjo-Riitta Järvelin; Manolis Kogevinas; Ruth J. F. Loos; Nicholas G. Martin; Andres Metspalu; Craig E. Pennell; Brenda W.J.H. Penninx; Markus Perola; Olli T. Raitakari; Veikko Salomaa; Stefan Schreiber; Heribert Schunkert; Tim D. Spector; Michael Stumvoll; André G. Uitterlinden; Sheila Ulivi; Pim van der Harst; Peter Vollenweider; Henry Völzke; Nicholas J. Wareham; H.-Erich Wichmann; James F. Wilson; Igor Rudan; Yali Xue; Eleftheria Zeggini;
doi: 10.1093/hmg/dds304
handle: 11368/2573421 , 11368/2626287 , 1887/98941 , 2066/108028 , 1871/41883 , 20.500.11820/e1d535c3-a892-4b64-94e6-8e6fcd3ead20 , 1765/57275 , 11370/567fe063-d9a9-4fa9-9bc7-fa5faa29dccf
pmc: PMC3471397
pmid: 22843499
Countries: Italy, Croatia, United Kingdom, Switzerland, Italy, United Kingdom, NetherlandsProject: ARC | Quantitative and Molecula... (DP0212016), NIH | HISPANIC SECONDARY STROKE... (1R01MD009164-01), NHMRC | Research Fellowship - Gra... (442915), NWO | Cluster computing in gene... (480-05-003), WT | The genetics of weight, B... (076113), NHMRC | Genetics of melanoma risk... (241944), NWO | Twin-family database for ... (480-04-004), NIH | From GWAS loci to blood p... (5R01HL086694-11), NIH | GWA for Gene-Environment ... (5U01HG004402-02), AKA | DOHaD-Pubertal growth and... (129287),...Item does not contain fulltext The male-to-female sex ratio at birth is constant across world populations with an average of 1.06 (106 male to 100 female live births) for populations of European descent. The sex ratio is considered to be affected by numerous biological and environmental factors and to have a heritable component. The aim of this study was to investigate the presence of common allele modest effects at autosomal and chromosome X variants that could explain the observed sex ratio at birth. We conducted a large-scale genome-wide association scan (GWAS) meta-analysis across 51 studies, comprising overall 114 863 individuals (61 094 women and 53 769 men) of European ancestry and 2 623 828 common (minor allele frequency >0.05) single-nucleotide polymorphisms (SNPs). Allele frequencies were compared between men and women for directly-typed and imputed variants within each study. Forward-time simulations for unlinked, neutral, autosomal, common loci were performed under the demographic model for European populations with a fixed sex ratio and a random mating scheme to assess the probability of detecting significant allele frequency differences. We do not detect any genome-wide significant (P < 5 x 10(-8)) common SNP differences between men and women in this well-powered meta-analysis. The simulated data provided results entirely consistent with these findings. This large-scale investigation across approximately 115 000 individuals shows no detectable contribution from common genetic variants to the observed skew in the sex ratio. The absence of sex-specific differences is useful in guiding genetic association study design, for example when using mixed controls for sex-biased traits.
Top 10% in popularityTop 10% in popularityAverage/low influencePopularity: Citation-based measure reflecting the current impact.Average/low influenceInfluence: Citation-based measure reflecting the total impact.add Add to ORCIDPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product. - Publication . Preprint . Article . 2020Open AccessAuthors:Anishya Harshan; Anshu Gupta; Kim-Vy Tran; Leo Y. Alcorn; Tiantian Yuan; Glenn G. Kacprzak; Themiya Nanayakkara; Karl Glazebrook; Lisa J. Kewley; Ivo Labbé; +1 moreAnishya Harshan; Anshu Gupta; Kim-Vy Tran; Leo Y. Alcorn; Tiantian Yuan; Glenn G. Kacprzak; Themiya Nanayakkara; Karl Glazebrook; Lisa J. Kewley; Ivo Labbé; Casey Papovich;
handle: 1887/3134394
Publisher: American Astronomical SocietyCountry: NetherlandsProject: NSF | At the Turn of the Tide: ... (1410728), ARC | Discovery Projects - Gran... (DP170103470)The global star formation rates (SFR) of galaxies at fixed stellar masses increase with redshift and are known to vary with environment unto z~2. We explore here whether the changes in the star formation rates can also apply to the electron densities of the inter-stellar medium (ISM) by measuring the [OII] (3727A/3729A) ratio for cluster and field galaxies at z~2. We measure a median electron density of ne = 366+/-84 cm-3 for six galaxies (with 1-sigma scatter = 163 cm-3) in the UDS proton-cluster at z=1.62. We find that the median electron density of galaxies in the UDS photo-cluster environment is three times higher compared to the median electron density of field galaxies (ne = 113+/- 63 cm-3 and 1-sigma scatter = 79 cm-3) at comparable redshifts, stellar mass and SFR. However, we note that a sample of six photo-cluster galaxies is insufficient to reliably measure the electron density in the average porto-cluster environment at z~2. We conclude that the electron density increases with redshift in both cluster and field environments up to z~2 (ne = 30 +/- 1 cm-3 for z ~ 0 to ne =254+/- 76 cm-3 for z~1.5). We find tentative evidence (~2.6 sigma ) for a possible dependence of electron density on environment, but the results require confirmation with larger sample sizes. 18 Pages, 6 figures, 3 tables, Accepted for publication in Astrophysical Journal
Top 10% in popularityTop 10% in popularityAverage/low influencePopularity: Citation-based measure reflecting the current impact.Average/low influenceInfluence: Citation-based measure reflecting the total impact.add Add to ORCIDPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product. - Publication . Article . Other literature type . 2015Open AccessAuthors:Winkler, Thomas W; Justice, Anne E; Graff, Mariaelisa; Barata, Llilda; Feitosa, Mary F; Chu, Su; Czajkowski, Jacek; Esko, Tõnu; Fall, Tove; Kilpeläinen, Tuomas O; +190 moreWinkler, Thomas W; Justice, Anne E; Graff, Mariaelisa; Barata, Llilda; Feitosa, Mary F; Chu, Su; Czajkowski, Jacek; Esko, Tõnu; Fall, Tove; Kilpeläinen, Tuomas O; Lu, Yingchang; Mägi, Reedik; Mihailov, Evelin; Pers, Tune H; Rüeger, Sina; Teumer, Alexander; Ehret, Georg B; Ferreira, Teresa; Heard-Costa, Nancy L; Karjalainen, Juha; Lagou, Vasiliki; Mahajan, Anubha; Neinast, Michael D; Prokopenko, Inga; Simino, Jeannette; Teslovich, Tanya M; Jansen, Rick; Westra, Harm-Jan; White, Charles C; Absher, Devin; Ahluwalia, Tarunveer S; Ahmad, Shafqat; Albrecht, Eva; Alves, Alexessander Couto; Bragg-Gresham, Jennifer L; de Craen, Anton JM; Bis, Joshua C; Bonnefond, Amélie; Boucher, Gabrielle; Cadby, Gemma; Cheng, Yu-Ching; Chiang, Charleston WK; Delgado, Graciela; Demirkan, Ayse; Dueker, Nicole; Eklund, Niina; Eiriksdottir, Gudny; Eriksson, Joel; Feenstra, Bjarke; Fischer, Krista; Frau, Francesca; Galesloot, Tessel E; Geller, Frank; Goel, Anuj; Gorski, Mathias; Grammer, Tanja B; Gustafsson, Stefan; Haitjema, Saskia; Hottenga, Jouke-Jan; Huffman, Jennifer E; Jackson, Anne U; Jacobs, Kevin B; Johansson, Åsa; Kaakinen, Marika; Kleber, Marcus E; Lahti, Jari; Mateo Leach, Irene; Lehne, Benjamin; Liu, Youfang; Lo, Ken Sin; Lorentzon, Mattias; Luan, Jian'an; Madden, Pamela AF; Mangino, Massimo; McKnight, Barbara; Medina-Gomez, Carolina; Monda, Keri L; Montasser, May E; Müller, Gabriele; Müller-Nurasyid, Martina; Nolte, Ilja M; Panoutsopoulou, Kalliope; Pascoe, Laura; Paternoster, Lavinia; Rayner, Nigel W; Renström, Frida; Rizzi, Federica; Rose, Lynda M; Ryan, Kathy A; Salo, Perttu; Sanna, Serena; Scharnagl, Hubert; Shi, Jianxin; Smith, Albert Vernon; Southam, Lorraine; Stančáková, Alena; Steinthorsdottir, Valgerdur; Strawbridge, Rona J; Sung, Yun Ju; Tachmazidou, Ioanna; Tanaka, Toshiko; Thorleifsson, Gudmar; Trompet, Stella; Pervjakova, Natalia; Tyrer, Jonathan P; Vandenput, Liesbeth; van der Laan, Sander W; van der Velde, Nathalie; van Setten, Jessica; van Vliet-Ostaptchouk, Jana V; Verweij, Niek; Vlachopoulou, Efthymia; Waite, Lindsay L; Wang, Sophie R; Wang, Zhaoming; Wild, Sarah H; Willenborg, Christina; Wilson, James F; Wong, Andrew; Yang, Jian; Yengo, Loïc; Yerges-Armstrong, Laura M; Yu, Lei; Zhang, Weihua; Zhao, Jing Hua; Andersson, Ehm A; Bakker, Stephan JL; Baldassarre, Damiano; Banasik, Karina; Barcella, Matteo; Barlassina, Cristina; Bellis, Claire; Benaglio, Paola; Blangero, John; Blüher, Matthias; Bonnet, Fabrice; Bonnycastle, Lori L; Boyd, Heather A; Bruinenberg, Marcel; Buchman, Aron S; Campbell, Harry; Chen, Yii-Der Ida; Chines, Peter S; Claudi-Boehm, Simone; Cole, John; Collins, Francis S; de Geus, Eco JC; de Groot, Lisette CPGM; Dimitriou, Maria; Duan, Jubao; Enroth, Stefan; Eury, Elodie; Farmaki, Aliki-Eleni; Forouhi, Nita G; Friedrich, Nele; Gejman, Pablo V; Gigante, Bruna; Glorioso, Nicola; Go, Alan S; Gottesman, Omri; Gräßler, Jürgen; Grallert, Harald; Grarup, Niels; Gu, Yu-Mei; Broer, Linda; Ham, Annelies C; Hansen, Torben; Harris, Tamara B; Hartman, Catharina A; Hassinen, Maija; Hastie, Nicholas; Hattersley, Andrew T; Heath, Andrew C; Henders, Anjali K; Hernandez, Dena; Hillege, Hans; Holmen, Oddgeir; Hovingh, Kees G; Hui, Jennie; Husemoen, Lise L; Hutri-Kähönen, Nina; Hysi, Pirro G; Illig, Thomas; De Jager, Philip L; Jalilzadeh, Shapour; Jørgensen, Torben; Jukema, J Wouter; Juonala, Markus; Kanoni, Stavroula; Karaleftheri, Maria; Khaw, Kay Tee; Kinnunen, Leena; Kittner, Steven J; Koenig, Wolfgang; Kolcic, Ivana; Kovacs, Peter; Krarup, Nikolaj T; Kratzer, Wolfgang; Krüger, Janine; Kuh, Diana;
pmc: PMC4591371 , PMC4927064
Countries: Switzerland, United Kingdom, Sweden, Italy, France, United Kingdom, United Kingdom, Sweden, France, Netherlands ...Project: EC | ENGAGE (201413), NIH | CHARGE consortium: gene d... (2R01HL105756-07), NIH | Institute for Clinical an... (3UL1RR025005-03S2), WT | Genetic investigation of ... (088869), NWO | Dissecting genetic comple... (047.017.043), NIH | FIELD CENTER FOR CCSP (N01HC055019-009), AKA | Preterm birth and childho... (134791), NIH | Genome-wide Search for CV... (5U01HL072515-06), NIH | PERSISTENCE &CHANGE IN DR... (1R01AA007535-01A1), NIH | Genetic Influences on ADH... (1R01MH063706-01),...Genome-wide association studies (GWAS) have identified more than 100 genetic variants contributing to BMI, a measure of body size, or waist-to-hip ratio (adjusted for BMI, WHRadjBMI), a measure of body shape. Body size and shape change as people grow older and these changes differ substantially between men and women. To systematically screen for age- and/or sex-specific effects of genetic variants on BMI and WHRadjBMI, we performed meta-analyses of 114 studies (up to 320,485 individuals of European descent) with genome-wide chip and/or Metabochip data by the Genetic Investigation of Anthropometric Traits (GIANT) Consortium. Each study tested the association of up to ~2.8M SNPs with BMI and WHRadjBMI in four strata (men ≤50y, men >50y, women ≤50y, women >50y) and summary statistics were combined in stratum-specific meta-analyses. We then screened for variants that showed age-specific effects (G x AGE), sex-specific effects (G x SEX) or age-specific effects that differed between men and women (G x AGE x SEX). For BMI, we identified 15 loci (11 previously established for main effects, four novel) that showed significant (FDR<5%) age-specific effects, of which 11 had larger effects in younger (<50y) than in older adults (≥50y). No sex-dependent effects were identified for BMI. For WHRadjBMI, we identified 44 loci (27 previously established for main effects, 17 novel) with sex-specific effects, of which 28 showed larger effects in women than in men, five showed larger effects in men than in women, and 11 showed opposite effects between sexes. No age-dependent effects were identified for WHRadjBMI. This is the first genome-wide interaction meta-analysis to report convincing evidence of age-dependent genetic effects on BMI. In addition, we confirm the sex-specificity of genetic effects on WHRadjBMI. These results may provide further insights into the biology that underlies weight change with age or the sexually dimorphism of body shape. Author Summary Adult body size and body shape differ substantially between men and women and change over time. More than 100 genetic variants that influence body mass index (measure of body size) or waist-to-hip ratio (measure of body shape) have been identified. While there is evidence that some genetic loci affect body shape differently in men than in women, little is known about whether genetic effects differ in older compared to younger adults, and whether such changes differ between men and women. Therefore, we conducted a systematic genome-wide search, including 114 studies (>320,000 individuals), to specifically identify genetic loci with age- and or sex-dependent effects on body size and shape. We identified 15 loci of which the effect on BMI was different in older compared to younger adults, whereas we found no evidence for loci with different effects in men compared to women. The opposite was seen for body shape as we identified 44 loci of which the effect on waist-to-hip ratio differed between men and women, but no difference between younger and older adults were observed. Our observations may provide new insights into the biology that underlies weight change with age or the sexual dimorphism of body shape.
Top 10% in popularityTop 10% in popularityTop 10% in influencePopularity: Citation-based measure reflecting the current impact.Top 10% in influenceInfluence: Citation-based measure reflecting the total impact.add Add to ORCIDPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product. - Publication . Article . Preprint . Other literature type . 2019Open Access EnglishAuthors:Bin Ren; Elodie Choquet; Marshall D. Perrin; Gaspard Duchene; John H. Debes; Laurent Pueyo; Malena Rice; Christine Chen; Glenn Schneider; Thomas M. Esposito; +63 moreBin Ren; Elodie Choquet; Marshall D. Perrin; Gaspard Duchene; John H. Debes; Laurent Pueyo; Malena Rice; Christine Chen; Glenn Schneider; Thomas M. Esposito; Charles A. Poteet; Jason J. Wang; S. Mark Ammons; Megan Ansdell; Pauline Arriaga; Vanessa P. Bailey; Travis Barman; Juan Sebastián Bruzzone; Joanna Bulger; Jeffrey Chilcote; Tara Cotten; Robert J. De Rosa; René Doyon; Michael P. Fitzgerald; Katherine B. Follette; Stephen J. Goodsell; Benjamin L. Gerard; James R. Graham; Alexandra Z. Greenbaum; J. Brendan Hagan; Pascale Hibon; Dean C. Hines; Li-Wei Hung; Patrick Ingraham; Paul Kalas; Quinn Konopacky; James E. Larkin; Bruce Macintosh; Jérôme Maire; Franck Marchis; Christian Marois; Johan Mazoyer; Francois Menard; Stanimir Metchev; Maxwell A. Millar-Blanchaer; Tushar Mittal; Magaret Moerchen; Eric L. Nielsen; Mamadou N'Diaye; Rebecca Oppenheimer; D. M. Palmer; Jennifer Patience; Christophe Pinte; Lisa Poyneer; Abhijith Rajan; Julien Rameau; Fredrik T. Rantakyrö; Jean-Baptiste Ruffio; Dominic M. Ryan; Dmitry Savransky; Adam C. Schneider; Anand Sivaramakrishnan; Inseok Song; Rémi Soummer; Christopher C. Stark; Sandrine Thomas; Arthur Vigan; J. Kent Wallace; Kimberly Ward-Duong; Sloane Wiktorowicz; Schuyler Wolff; Marie Ygouf; Colin Norman;
handle: 1887/84959
Countries: Netherlands, Netherlands, Canada, United States, France, NetherlandsProject: ARC | Discovery Projects - Gran... (DP180104235), NSF | First-Light Debris Disk S... (1413718), NSF | Direct detection and char... (1518332), ARC | ARC Future Fellowships - ... (FT170100040)We have obtained Hubble Space Telescope STIS and NICMOS, and Gemini/GPI scattered light images of the HD 191089 debris disk. We identify two spatial components: a ring resembling Kuiper Belt in radial extent (FWHM: ${\sim}$25 au, centered at ${\sim}$46 au), and a halo extending to ${\sim}$640 au. We find that the halo is significantly bluer than the ring, consistent with the scenario that the ring serves as the "birth ring" for the smaller dust in the halo. We measure the scattering phase functions in the 30{\deg}-150{\deg} scattering angle range and find the halo dust is both more forward- and backward-scattering than the ring dust. We measure a surface density power law index of -0.68${\pm}$0.04 for the halo, which indicates the slow-down of the radial outward motion of the dust. Using radiative transfer modeling, we attempt to simultaneously reproduce the (visible) total and (near-infrared) polarized intensity images of the birth ring. Our modeling leads to mutually inconsistent results, indicating that more complex models, such as the inclusion of more realistic aggregate particles, are needed. Comment: 29 pages, 18 figures, ApJ accepted
Top 10% in popularityTop 10% in popularityAverage/low influencePopularity: Citation-based measure reflecting the current impact.Average/low influenceInfluence: Citation-based measure reflecting the total impact.add Add to ORCIDPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product. - Publication . Article . Other literature type . 2010Open AccessAuthors:Hana Lango Allen; Karol Estrada; Michael N. Weedon; Fernando Rivadeneira; Cristen J. Willer; Anne U. Jackson; Sailaja Vedantam; Soumya Raychaudhuri; Andrew R. Wood; Robert J. Weyant; +199 moreHana Lango Allen; Karol Estrada; Michael N. Weedon; Fernando Rivadeneira; Cristen J. Willer; Anne U. Jackson; Sailaja Vedantam; Soumya Raychaudhuri; Andrew R. Wood; Robert J. Weyant; Elizabeth K. Speliotes; Eleanor Wheeler; Nicole Soranzo; Ju-Hyun Park; Jian Yang; Daniel F. Gudbjartsson; Nancy L. Heard-Costa; Albert V. Smith; Reedik Mägi; Tomi Pastinen; Liming Liang; Iris M. Heid; Thomas W. Winkler; Michael E. Goddard; Cameron D. Palmer; Tsegaselassie Workalemahu; Yurii S. Aulchenko; Åsa Johansson; Mary F. Feitosa; Tõnu Esko; Toby Johnson; Peter Kraft; Massimo Mangino; Inga Prokopenko; Devin Absher; Eva Albrecht; Florian Ernst; Nicole L. Glazer; Caroline Hayward; Jouke-Jan Hottenga; Kevin B. Jacobs; Ozren Polasek; Michael Preuss; Nigel W. Rayner; Neil R. Robertson; Valgerdur Steinthorsdottir; Jonathan Tyrer; Benjamin F. Voight; Dale R. Nyholt; Niina Pellikka; Ida Surakka; Mari Liis Tammesoo; Najaf Amin; Thor Aspelund; Tushar Bhangale; Gabrielle Boucher; Lachlan J. M. Coin; Mark E. Cooper; Quince Gibson; Elin Grundberg; M. Juhani Junttila; Lee M. Kaplan; Johannes Kettunen; Inke R. König; Tony Kwan; Douglas F. Levinson; Mattias Lorentzon; Barbara McKnight; Andrew P. Morris; Martina Müller; Shaun Purcell; Rany M. Salem; Erika Salvi; Serena Sanna; Jianxin Shi; Ulla Sovio; Michael C. Turchin; Liesbeth Vandenput; Veronique Vitart; Andreas Ziegler; Harry Campbell; Lorena Citterio; Alessandro De Grandi; Anna F. Dominiczak; Paul Elliott; Roberto Elosua; Johan G. Eriksson; Nelson B. Freimer; Eco J. C. de Geus; Nicola Glorioso; Shen Haiqing; Anna-Liisa Hartikainen; Aki S. Havulinna; Andrew A. Hicks; Jennie Hui; Wilmar Igl; Antti Jula; Markku Koiranen; Ivana Kolcic; Peter Kovacs; Jaana Laitinen; Jianjun Liu; Marja-Liisa Lokki; Andrea Maschio; Thomas Meitinger; Antonella Mulas; Guillaume Paré; Alex N. Parker; John F. Peden; Irene Pichler; Kirsi H. Pietiläinen; Martin Ridderstråle; Jennifer G. Sambrook; Alan R. Sanders; Carsten Oliver Schmidt; Juha Sinisalo; Jan Smit; Heather M. Stringham; Elisabeth Widen; Sarah H. Wild; Gonneke Willemsen; Laura Zagato; Lina Zgaga; Paavo Zitting; Martin Farrall; Wendy L. McArdle; Mari Nelis; Marjolein J. Peters; Joyce B. J. van Meurs; Kristin G. Ardlie; John Beilby; Richard N. Bergman; Sven Bergmann; Martin den Heijer; Alistair S. Hall; Anders Hamsten; Carlos Iribarren; Mika Kähönen; Jaakko Kaprio; Sekar Kathiresan; Lambertus A. Kiemeney; Lenore J. Launer; Terho Lehtimäki; Olle Melander; Markku S. Nieminen; Christopher J. O'Donnell; Claes Ohlsson; Ben A. Oostra; Paul M. Ridker; John D. Rioux; Aila Rissanen; Carlo Rivolta; Heribert Schunkert; Alan R. Shuldiner; Michael Stumvoll; Gert-Jan B. van Ommen; Jorma Viikari; Nicholas G. Martin; Grant W. Montgomery; Michael A. Province; Manfred Kayser; Larry D. Atwood; Eric Boerwinkle; Panos Deloukas; Christian Gieger; Per Hall; Andrew T. Hattersley; Stefan Schreiber; Manuela Uda; Dawn M. Waterworth; Alan F. Wright; Themistocles L. Assimes; Inês Barroso; Albert Hofman; Dorret I. Boomsma; Jeanette Erdmann; Caroline S. Fox; Vilmundur Gudnason; Tamara B. Harris; Richard B. Hayes; Marjo-Riitta Järvelin; Vincent Mooser; Patricia B. Munroe; Willem H. Ouwehand; Brenda W.J.H. Penninx; Peter P. Pramstaller; Thomas Quertermous; Igor Rudan; Nilesh J. Samani; Tim D. Spector; Hugh Watkins; James F. Wilson; Talin Haritunians; Frank B. Hu; Robert C. Kaplan; David Schlessinger; Nicholas J. Wareham; Jeffrey R. O'Connell; H.-Erich Wichmann; Cornelia M. van Duijn; André G. Uitterlinden; Peter M. Visscher; Nilanjan Chatterjee; Ruth J. F. Loos; Mark I. McCarthy; Cecilia M. Lindgren; Gonçalo R. Abecasis; Kari Stefansson; Joel N. Hirschhorn;
handle: 1765/27468 , 1871/34162 , 1887/108473 , 2066/88266 , 11370/51b1c02a-435a-4bfe-bd28-b1ecab3abfb5
pmid: 20881960
pmc: PMC2955183
handle: 1765/27468 , 1871/34162 , 1887/108473 , 2066/88266 , 11370/51b1c02a-435a-4bfe-bd28-b1ecab3abfb5
pmid: 20881960
pmc: PMC2955183
Publisher: Springer Science and Business Media LLCCountries: Switzerland, Netherlands, France, United Kingdom, France, United KingdomProject: NIH | Molecular Epidemiology of... (1R01AA013326-01), NIH | GENOTYPING FOR LOCATING H... (N01HG065403-001), AKA | Public Health Genomics to... (129494), NIH | AN NCRR CENTER FOR HIGH T... (5U54RR020278-04), NIH | Genetic determinants of p... (1R01CA104021-01A2), NIH | COMMUNITY AND COHORT SURV... (N01HC055015-028), NIH | Genetics of cardiovascula... (5R01HL087679-02), ARC | Maximising knowledge from... (DP0770096), NIH | TRIAL OF ASPIRIN AND VITA... (5R01CA047988-10), NIH | Type 1 Diabetes Genetics ... (1U01DK062418-01),...Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits1, but these typically explain small fractions of phenotypic variation, raising questions about the use of further studies. Here, using 183,727 individuals, we show that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait2,3. The large number of loci reveals patterns with important implications for genetic studies of common human diseases and traits. First, the 180 loci are not random, but instead are enriched for genes that are connected in biological pathways ( P=0.016) and that underlie skeletal growth defects ( P<0.001). Second, the likely causal gene is often located near the most strongly associated variant: in 13 of 21 loci containing a known skeletal growth gene, that gene was closest to the associated variant. Third, at least 19 loci have multiple independently associated variants, suggesting that allelic heterogeneity is a frequent feature of polygenic traits, that comprehensive explorations of alreadydiscovered loci should discover additional variants and that an appreciable fraction of associated loci may have been identified. Fourth, associated variants are enriched for likely functional effects on genes, being over-represented among variants that alter amino-acid structure of proteins and expression levels of nearby genes. Our data explain approximately 10% of the phenotypic variation in height, and we estimate that unidentified common variants of similar effect sizes would increase this figure to approximately 16% of phenotypic variation (approximately 20% of heritable variation). Although additional approaches are needed to dissect the genetic architecture of polygenic human traits fully, our findings indicate that GWA studies can identify large numbers of loci that implicate biologically relevant genes and pathways. © 2010 Macmillan Publishers Limited. All rights reserved.
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