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Title | Two rare AKAP9 variants are associated with Alzheimer's disease in African Americans. |
Publication Type | Journal Article |
Year of Publication | 2014 |
Authors | Logue MW, Schu M, Vardarajan BN, Farrell J, Bennett DA, Buxbaum JD, Byrd GS, Ertekin-Taner N, Evans D, Foroud T, Goate A, Graff-Radford NR, M Kamboh I, Kukull WA, Manly JJ |
Corporate Authors | Alzheimer Disease Genetics Consortium, Alzheimer Disease Genetics Consortium |
Journal | Alzheimers Dement |
Volume | 10 |
Issue | 6 |
Pagination | 609-618.e11 |
Date Published | 2014 Nov |
ISSN | 1552-5279 |
Keywords | A Kinase Anchor Proteins, African Americans, Aged, Aged, 80 and over, Alzheimer Disease, Cluster Analysis, Cytoskeletal Proteins, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Linkage Disequilibrium, Male, Polymorphism, Single Nucleotide |
Abstract | BACKGROUND: Less is known about the genetic basis of Alzheimer's disease (AD) in African Americans (AAs) than in non-Hispanic whites.METHODS: Whole exome sequencing (WES) was performed on seven AA AD cases. Disease association with potentially AD-related variants from WES was assessed in an AA discovery cohort of 422 cases and 394 controls. Replication was sought in an AA sample of 1037 cases and 1869 controls from the Alzheimer Disease Genetics Consortium (ADGC).RESULTS: Forty-four single nucleotide polymorphisms (SNPs) from WES passed filtering criteria and were successfully genotyped. Nominally significant (P < .05) association to AD was observed with two African-descent specific AKAP9 SNPs in tight linkage disequilibrium: rs144662445 (P = .014) and rs149979685 (P = .037). These associations were replicated in the ADGC sample (rs144662445: P = .0022, odds ratio [OR] = 2.75; rs149979685: P = .0022, OR = 3.61).CONCLUSIONS: Because AKAP9 was not previously linked to AD risk, this study indicates a potential new disease mechanism. |
DOI | 10.1016/j.jalz.2014.06.010 |
Alternate Journal | Alzheimers Dement |
PubMed ID | 25172201 |
PubMed Central ID | PMC4253055 |
Grant List | RF1 AG015819 / AG / NIA NIH HHS / United States R01 AG009029 / AG / NIA NIH HHS / United States U24 AG021886 / AG / NIA NIH HHS / United States U01 AG032984 / AG / NIA NIH HHS / United States R01 AG030146 / AG / NIA NIH HHS / United States U01 AG016976 / AG / NIA NIH HHS / United States P01 AG003991 / AG / NIA NIH HHS / United States P50 AG005681 / AG / NIA NIH HHS / United States P30 AG013846 / AG / NIA NIH HHS / United States R01 AG017917 / AG / NIA NIH HHS / United States UL1 TR001108 / TR / NCATS NIH HHS / United States P30 AG010161 / AG / NIA NIH HHS / United States R01 NS080820 / NS / NINDS NIH HHS / United States P50 AG005133 / AG / NIA NIH HHS / United States R01 AG041797 / AG / NIA NIH HHS / United States R01 AG037212 / AG / NIA NIH HHS / United States R01 AG030653 / AG / NIA NIH HHS / United States R01 AG025259 / AG / NIA NIH HHS / United States R01 AG041718 / AG / NIA NIH HHS / United States |