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  • image/svg+xml art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos Open Access logo, converted into svg, designed by PLoS. This version with transparent background. http://commons.wikimedia.org/wiki/File:Open_Access_logo_PLoS_white.svg art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos http://www.plos.org/
    Authors: Holstege, Henne; Grozeva, Detelina; Sims, Rebecca; Luckcuck, Lauren; +85 Authors

    The genetic component of Alzheimer’s disease (AD) has been mainly assessed using Genome Wide Association Studies (GWAS), which do not capture the risk contributed by rare variants. Here, we compared the gene-based burden of rare damaging variants in exome sequencing data from 32,558 individuals —16,036 AD cases and 16,522 controls— in a two-stage analysis. Next to known genes TREM2, SORL1 and ABCA7, we observed a significant association of rare, predicted damaging variants in ATP8B4 and ABCA1 with AD risk, and a suggestive signal in ADAM10. Next to these genes, the rare variant burden in RIN3, CLU, ZCWPW1 and ACE highlighted these genes as potential driver genes in AD-GWAS loci. Rare damaging variants in these genes, and in particular loss-of-function variants, have a large effect on AD-risk, and they are enriched in early onset AD cases. The newly identified AD-associated genes provide additional evidence for a major role for APP-processing, Aβ-aggregation, lipid metabolism and microglial function in AD.

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  • image/svg+xml art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos Open Access logo, converted into svg, designed by PLoS. This version with transparent background. http://commons.wikimedia.org/wiki/File:Open_Access_logo_PLoS_white.svg art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos http://www.plos.org/

    https://viurrspace.ca/bitstream/handle/10613/18481/Jun19-1912.pdf?sequence=2&isAllowed=y

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    https://viurrspace.ca/bitstream/handle/10613/18040/Jan29-1898.pdf?sequence=2

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    https://doi.org/10.25316/ir-10...
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  • Authors: Togola, Adama;
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    https://viurrspace.ca/bitstream/handle/10613/8978/Nov17-1928.pdf?sequence=2&isAllowed=y

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    VIUSpace
    1928
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    https://doi.org/10.25316/ir-34...
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    https://viurrspace.ca/bitstream/handle/10613/11446/Jan02-1923.pdf?sequence=2&isAllowed=y

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  • image/svg+xml art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos Open Access logo, converted into svg, designed by PLoS. This version with transparent background. http://commons.wikimedia.org/wiki/File:Open_Access_logo_PLoS_white.svg art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos http://www.plos.org/

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831 Research products
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    Authors: Holstege, Henne; Grozeva, Detelina; Sims, Rebecca; Luckcuck, Lauren; +85 Authors

    The genetic component of Alzheimer’s disease (AD) has been mainly assessed using Genome Wide Association Studies (GWAS), which do not capture the risk contributed by rare variants. Here, we compared the gene-based burden of rare damaging variants in exome sequencing data from 32,558 individuals —16,036 AD cases and 16,522 controls— in a two-stage analysis. Next to known genes TREM2, SORL1 and ABCA7, we observed a significant association of rare, predicted damaging variants in ATP8B4 and ABCA1 with AD risk, and a suggestive signal in ADAM10. Next to these genes, the rare variant burden in RIN3, CLU, ZCWPW1 and ACE highlighted these genes as potential driver genes in AD-GWAS loci. Rare damaging variants in these genes, and in particular loss-of-function variants, have a large effect on AD-risk, and they are enriched in early onset AD cases. The newly identified AD-associated genes provide additional evidence for a major role for APP-processing, Aβ-aggregation, lipid metabolism and microglial function in AD.

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    https://viurrspace.ca/bitstream/handle/10613/18481/Jun19-1912.pdf?sequence=2&isAllowed=y

    image/svg+xml art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos Open Access logo, converted into svg, designed by PLoS. This version with transparent background. http://commons.wikimedia.org/wiki/File:Open_Access_logo_PLoS_white.svg art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos http://www.plos.org/ VIUSpacearrow_drop_down
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    VIUSpace
    1912
    Data sources: VIUSpace
    0
    citations0
    popularityAverage
    influenceAverage
    impulseAverage
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      VIUSpace
      1912
      Data sources: VIUSpace
  • image/svg+xml art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos Open Access logo, converted into svg, designed by PLoS. This version with transparent background. http://commons.wikimedia.org/wiki/File:Open_Access_logo_PLoS_white.svg art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos http://www.plos.org/

    https://viurrspace.ca/bitstream/handle/10613/18040/Jan29-1898.pdf?sequence=2

    image/svg+xml art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos Open Access logo, converted into svg, designed by PLoS. This version with transparent background. http://commons.wikimedia.org/wiki/File:Open_Access_logo_PLoS_white.svg art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos http://www.plos.org/ VIUSpacearrow_drop_down
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    VIUSpace
    1898
    Data sources: VIUSpace
    https://doi.org/10.25316/ir-10...
    Other ORP type . 1898
    Data sources: Datacite
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      VIUSpace
      1898
      Data sources: VIUSpace
      https://doi.org/10.25316/ir-10...
      Other ORP type . 1898
      Data sources: Datacite
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  • Authors: Togola, Adama;
    Éruditarrow_drop_down
    Érudit
    Other ORP type
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    https://viurrspace.ca/bitstream/handle/10613/8978/Nov17-1928.pdf?sequence=2&isAllowed=y

    image/svg+xml art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos Open Access logo, converted into svg, designed by PLoS. This version with transparent background. http://commons.wikimedia.org/wiki/File:Open_Access_logo_PLoS_white.svg art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos http://www.plos.org/ VIUSpacearrow_drop_down
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    VIUSpace
    1928
    Data sources: VIUSpace
    https://doi.org/10.25316/ir-34...
    Other ORP type . 1928
    Data sources: Datacite
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      VIUSpace
      1928
      Data sources: VIUSpace
      https://doi.org/10.25316/ir-34...
      Other ORP type . 1928
      Data sources: Datacite
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  • image/svg+xml art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos Open Access logo, converted into svg, designed by PLoS. This version with transparent background. http://commons.wikimedia.org/wiki/File:Open_Access_logo_PLoS_white.svg art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos http://www.plos.org/

    https://viurrspace.ca/bitstream/handle/10613/11446/Jan02-1923.pdf?sequence=2&isAllowed=y

    image/svg+xml art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos Open Access logo, converted into svg, designed by PLoS. This version with transparent background. http://commons.wikimedia.org/wiki/File:Open_Access_logo_PLoS_white.svg art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos http://www.plos.org/ VIUSpacearrow_drop_down
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    VIUSpace
    1923
    Data sources: VIUSpace
    https://doi.org/10.25316/ir-58...
    Other ORP type . 1923
    Data sources: Datacite
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      VIUSpace
      1923
      Data sources: VIUSpace
      https://doi.org/10.25316/ir-58...
      Other ORP type . 1923
      Data sources: Datacite
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    https://viurrspace.ca/bitstream/handle/10613/22009/Jan05-1881.pdf?sequence=2&isAllowed=y

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    VIUSpace
    1881
    Data sources: VIUSpace
    0
    citations0
    popularityAverage
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      VIUSpace
      1881
      Data sources: VIUSpace
  • image/svg+xml art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos Open Access logo, converted into svg, designed by PLoS. This version with transparent background. http://commons.wikimedia.org/wiki/File:Open_Access_logo_PLoS_white.svg art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos http://www.plos.org/

    https://viurrspace.ca/bitstream/handle/10613/21979/Feb26-1879.pdf?sequence=2

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    VIUSpace
    1879
    Data sources: VIUSpace
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    citations0
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      VIUSpace
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      Data sources: VIUSpace
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