Rs908832

This SNP, a synonymous substitution in the ABCA2 gene, has been linked to early onset Alzheimer's disease with an odds ratio of 3.8 for disease development in carriers of the A allele (in dbSNP orientation) compared to controls (95% CI 2-7.3), based on a study of ~400 Caucasian patients. [PMID 15649702]

Subsequently, this association was replicated in a Western European population (n=291, p=0.008), but not in a second sample from Southern Europe. rs908832 was not polymorphic in a Japanese sample. Furthermore, rs908832 was not associated with either serum cholesterol levels or with the risk for coronary artery disease, but did seem to be related to cholesterol levels in the cerebrospinal fluid.[PMID 16752360]