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Buxbaum, Joseph D.

https://orcid.org/0000-0001-8898-8313

A5037444292 | I98704320

Mayo Clinic

Icahn School of Medicine at Mount Sinai

Citations 14

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

Alzheimer's & Dementia | August 26, 2014 | Volume: 10 | Issue: 6 | Pages: 609

10.1016/j.jalz.2014.06.010 | PMID 25172201

AbstractBackgroundLess is known about the genetic basis of Alzheimer's disease (AD) in African Americans (AAs) than in non‐Hispanic whites.MethodsWhole 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).ResultsForty‐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).ConclusionsBecause AKAP9 was not previously linked to AD risk, this study indicates a potential new disease mechanism.
P1–063: Association of TREM2 variants with Alzheimer's disease in African‐Americans: For the Alzheimer's Disease Genetics Consortium (ADGC)

Alzheimer's & Dementia | October 9, 2013 | Volume: 9 | Issue: 4S_Part_4 | Pages: No page available

10.1016/j.jalz.2013.05.284

O1‐09‐01: CTNNA3, CAPRIN2 and SPG20 are significantly associated with Alzheimer's disease in preliminary analyses of a genome‐wide association study in African‐Americans

Alzheimer's & Dementia | July 19, 2012 | Volume: 8 | Issue: 4S_Part_3 | Pages: No page available

10.1016/j.jalz.2012.05.251

Novel late-onset Alzheimer disease loci variants associate with brain gene expression

Neurology | June 22, 2012 | Volume: 79 | Issue: 3 | Pages: 221-228

10.1212/wnl.0b013e3182605801 | PMID 22722634