Geno
|
Mag
|
Summary
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(A;A)
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0
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common/normal
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(A;G)
|
2
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Increased risk (~1.8x) of Alzheimer's, observed for African-Americans
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(G;G)
|
2.5
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Increased risk (~2.2x?) of Alzheimer's, observed for African-Americans
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A 2013 meta-analysis comprising a total of ~2,000 African-Americans with late-onset Alzheimer's disease found that rs115550680(G) was associated with higher risk for the disorder in this population (OR 1.79, CI: 1.47-2.12, p = 2.2 × 10e-9). This SNP was is in (80-90%) linkage disequilibrium with SNPs previously associated with Alzheimer disease in Europeans.[PMID 23571587]
In 2016, a publication reported that a 44-base pair deletion (rs142076058) co-segregated with both Alzheimer's and rs115550680(G).This deletion is common in African-American Alzheimer cases (15.2%) and controls (9.74%), but is rare (0.12%) in a non-Hispanic white cohort. The deleted allele could result in defective protein function and be an ethnic-specific pathogenic alteration.[PMID 27231719]