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• W2896040913 abstract "The genetic architecture of late-onset Alzheimer disease (AD) in African Americans (AAs) differs from that of white non-Hispanic (WNH) subjects. In addition to APOE, genome-wide association studies (GWASs) of AD in AAs have implicated ABCA7, COBL, and SLC10A2 as AA-AD risk genes. A study examining WNH GWAS genes with exome sequencing found evidence that MS4A6A, PTK2B, and ZCWPW1 may also be risk loci for AA-descent subjects. Another recent study implicated a pair of rare African-American specific risk variants in the gene AKAP9. We use targeted deep sequencing (including introns and exons) in a AA cohort of 489 AD cases and 472 controls to examine approximately 100 genes/region identified as associated with AD for evidence of additional AA-AD risk variants. Genotyping of identified variants of interest was performed in an independent AA cohort of AA cohort of 484 cases and 484 controls. We identified a novel AD-associated 11 base-pair frame-shift loss of function variant in ABCA7 (rs567222111, OR=3.57, p=0.037). This variant was not significantly associated in the replication cohort (OR=1.84, p=0.22), but association observed in the pooled discovery and replication cohorts was more significant than the discovery cohort alone (OR=2.42, p=0.022). We also observed significant association with a rare 9 base-pair deletion very near to the AKAP9 transcription start site (rs371245265, OR=10.75, p=0.0053). This variant is in linkage disequilibrium with the previously identified rare AD-associated AKAP9 coding variants. There were no remarkable findings with other genes that are associated with AD in European ancestry populations. Our study demonstrates the utility of gene re-sequencing studies in non-WNH samples for discovery of new and impactful AD risk variants. The ABCA7 deletion we identified is independent of rs142076058, another AD-associated ABCA7 LOF deletion that was found in another AA cohort, and potentially more deleterious as it is closer to the TSS. Larger sample sizes will be needed to generate well-powered epidemiological investigations of rare variation in AAs. Functional studies (e.g., gene-expression, amyloid-β and Tau processing, etc.) are needed to establish whether variants identified by sequencing are pathogenic and potential therapeutic targets." @default.
• W2896040913 created "2018-10-26" @default.
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• W2896040913 date "2018-07-01" @default.
• W2896040913 modified "2023-10-14" @default.
• W2896040913 title "P2‐125: TARGETED SEQUENCING OF AFRICAN AMERICAN ALZHEIMER'S DISEASE RISK GENES IMPLICATES SEVERAL POTENTIAL AD RISK VARIANTS" @default.
• W2896040913 doi "https://doi.org/10.1016/j.jalz.2018.06.811" @default.
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