Abstract
We recently reported the association of the CALHM1 gene with late-onset Alzheimer's disease (LOAD) risk in four independent populations of more than 3000 participants (Dreses-Werringloer et al., 2008). We showed that the rare allele of the nonsynonymous SNP rs2986017 in CALHM1 increases LOAD risk by about 40% (p = 2 × 10−10). Importantly, we also demonstrated the functional significance of the CALHM1 rs2986017 SNP by showing that the corresponding Pro86Leu polymorphism increased levels of the pathogenic peptide, Aβ (Dreses-Werringloer et al., 2008).
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