Unknown

Dataset Information

0

Two rare AKAP9 variants are associated with Alzheimer's disease in African Americans.

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.

SUBMITTER: Logue MW 

PROVIDER: S-EPMC4253055 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

Two rare AKAP9 variants are associated with Alzheimer's disease in African Americans.

Logue Mark W MW   Schu Matthew M   Vardarajan Badri N BN   Farrell John J   Bennett David A DA   Buxbaum Joseph D JD   Byrd Goldie S GS   Ertekin-Taner Nilufer N   Evans Denis D   Foroud Tatiana T   Goate Alison A   Graff-Radford Neill R NR   Kamboh M Ilyas MI   Kukull Walter A WA   Manly Jennifer J JJ  

Alzheimer's & dementia : the journal of the Alzheimer's Association 20140827 6

<h4>Background</h4>Less is known about the genetic basis of Alzheimer's disease (AD) in African Americans (AAs) than in non-Hispanic whites.<h4>Methods</h4>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).<h4>Results</h4>Fo  ...[more]

Similar Datasets

Unknown Tau Phosphorylation is Impacted by Rare AKAP9 Mutations Associated with Alzheimer Disease in African Americans.
| S-EPMC5928172 | biostudies-literature
Unknown Two novel loci, COBL and SLC10A2, for Alzheimer's disease in African Americans.
| S-EPMC5318231 | biostudies-literature
Unknown TREM2 is associated with increased risk for Alzheimer's disease in African Americans.
| S-EPMC4426167 | biostudies-literature
Unknown Comprehensive Screening for Disease Risk Variants in Early-Onset Alzheimer's Disease Genes in African Americans Identifies Novel PSEN Variants.
| S-EPMC6774612 | biostudies-literature
Unknown Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.
| S-EPMC5725144 | biostudies-other
Unknown Plasma Biomarkers of Alzheimer's Disease in African Americans.
| S-EPMC7902984 | biostudies-literature
Unknown Identification of rare variants in Alzheimer's disease.
| S-EPMC4211559 | biostudies-literature
Unknown Identification of Alzheimer's disease-associated rare coding variants in the ECE2 gene.
| S-EPMC7101146 | biostudies-literature
Unknown Rare TREM2 variants associated with Alzheimer's disease display reduced cell surface expression.
| S-EPMC5010724 | biostudies-literature
Unknown Sequencing the IL4 locus in African Americans implicates rare noncoding variants in asthma susceptibility.
| S-EPMC3984460 | biostudies-literature