Although a number of genome-wide association studies (GWASs) of late-onset Alzheimer’s disease (LOAD) have been carried out, there have been little GWAS data on East Asian populations.
To discover the novel susceptibility loci of LOAD, we carried out a GWAS using 816 LOAD cases and 7992 controls with a replication analysis using an independent panel of 1011 LOAD cases and 7212 controls in a Japanese population. In addition, we carried out a stratified analysis by APOE-ε4 status to eliminate the established effect of APOE region.
Our data indicated that 18p11.32 (rs1992269, P=9.77×10−7), CNTNAP2 (rs802571, P=1.26×10−6), and 12q24.23 (rs11613092, P=6.85×10−6) were suggestive loci for susceptibility to LOAD.
We identified three suggestive loci for susceptibility to LOAD in a Japanese population. Among these, rs802571, located at intron 1 of CNTNAP2, was considered to be a plausible candidate locus from a functional perspective.