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@ARTICLE{Ray:271868,
      author       = {Ray, Nicholas R and Kunkle, Brian W and Hamilton-Nelson,
                      Kara and Kurup, Jiji T and Rajabli, Farid and Qiao, Min and
                      Vardarajan, Badri N and Cosacak, Mehmet I and Kizil, Caghan
                      and Jean-Francois, Melissa and Cuccaro, Michael and
                      Reyes-Dumeyer, Dolly and Cantwell, Laura and Kuzma, Amanda
                      and Vance, Jeffery M and Gao, Sujuan and Hendrie, Hugh C and
                      Baiyewu, Olusegun and Ogunniyi, Adesola and Akinyemi, Rufus
                      O and Lee, Wan-Ping and Martin, Eden R and Wang, Li-San and
                      Beecham, Gary W and Bush, William S and Xu, Wanying and Jin,
                      Fulai and Wang, Liyong and Farrer, Lindsay A and Haines,
                      Jonathan L and Byrd, Goldie S and Schellenberg, Gerard D and
                      Mayeux, Richard and Pericak-Vance, Margaret A and Reitz,
                      Christiane},
      collaboration = {Consortium, Alzheimer's Disease Genetics},
      title        = {{E}xtended genome-wide association study employing the
                      {A}frican genome resources panel identifies novel
                      susceptibility loci for {A}lzheimer's disease in individuals
                      of {A}frican ancestry.},
      journal      = {Alzheimer's and dementia},
      volume       = {20},
      number       = {8},
      issn         = {1552-5260},
      address      = {Hoboken, NJ},
      publisher    = {Wiley},
      reportid     = {DZNE-2024-01080},
      pages        = {5247 - 5261},
      year         = {2024},
      abstract     = {Despite a two-fold risk, individuals of African ancestry
                      have been underrepresented in Alzheimer's disease (AD)
                      genomics efforts.Genome-wide association studies (GWAS) of
                      2,903 AD cases and 6,265 controls of African ancestry.
                      Within-dataset results were meta-analyzed, followed by
                      functional genomics analyses.A novel AD-risk locus was
                      identified in MPDZ on chromosome (chr) 9p23 (rs141610415,
                      MAF = 0.002, p = 3.68×10-9). Two additional novel common
                      and nine rare loci were identified with suggestive
                      associations (P < 9×10-7). Comparison of association and
                      linkage disequilibrium (LD) patterns between datasets with
                      higher and lower degrees of African ancestry showed
                      differential association patterns at chr12q23.2 (ASCL1),
                      suggesting that this association is modulated by regional
                      origin of local African ancestry.These analyses identified
                      novel AD-associated loci in individuals of African ancestry
                      and suggest that degree of African ancestry modulates some
                      associations. Increased sample sets covering as much African
                      genetic diversity as possible will be critical to identify
                      additional loci and deconvolute local genetic ancestry
                      effects.Genetic ancestry significantly impacts risk of
                      Alzheimer's Disease (AD). Although individuals of African
                      ancestry are twice as likely to develop AD, they are vastly
                      underrepresented in AD genomics studies. The Alzheimer's
                      Disease Genetics Consortium has previously identified 16
                      common and rare genetic loci associated with AD in African
                      American individuals. The current analyses significantly
                      expand this effort by increasing the sample size and
                      extending ancestral diversity by including populations from
                      continental Africa. Single variant meta-analysis identified
                      a novel genome-wide significant AD-risk locus in individuals
                      of African ancestry at the MPDZ gene, and 11 additional
                      novel loci with suggestive genome-wide significance at p <
                      9×10-7. Comparison of African American datasets with
                      samples of higher degree of African ancestry demonstrated
                      differing patterns of association and linkage disequilibrium
                      at one of these loci, suggesting that degree and/or
                      geographic origin of African ancestry modulates the effect
                      at this locus. These findings illustrate the importance of
                      increasing number and ancestral diversity of African
                      ancestry samples in AD genomics studies to fully disentangle
                      the genetic architecture underlying AD, and yield more
                      effective ancestry-informed genetic screening tools and
                      therapeutic interventions.},
      keywords     = {Humans / Alzheimer Disease: genetics / Alzheimer Disease:
                      ethnology / Genome-Wide Association Study / Genetic
                      Predisposition to Disease: genetics / Black People: genetics
                      / Linkage Disequilibrium / Polymorphism, Single Nucleotide:
                      genetics / Female / Male / Aged / African Americans (Other)
                      / African genome Panel (Other) / Alzheimer's disease (Other)
                      / genome‐wide association study (Other)},
      cin          = {AG Kizil},
      ddc          = {610},
      cid          = {I:(DE-2719)1710007},
      pnm          = {352 - Disease Mechanisms (POF4-352)},
      pid          = {G:(DE-HGF)POF4-352},
      typ          = {PUB:(DE-HGF)16},
      pmc          = {pmc:PMC11350055},
      pubmed       = {pmid:38958117},
      doi          = {10.1002/alz.13880},
      url          = {https://pub.dzne.de/record/271868},
}