A genome-wide association study of late-onset Alzheimer's disease in a Japanese population

作者：Hirano Atsushi^*; Ohara Tomoyuki; Takahashi Atsushi; Aoki Masayuki; Fuyuno Yuta; Ashikawa Kyota; Morihara Takashi; Takeda Masatoshi; Kamino Kouzin; Oshima Etsuko; Okahisa Yuko; Shibata Nobuto; Arai Heii; Akatsu Hiroyasu; Ikeda Masashi; Iwata Nakao; Ninomiya Toshiharu; Monji Akira; Kitazono Takanari; Kiyohara Yutaka; Kubo Michiaki; Kanba Shigenobu

来源：Psychiatric Genetics, 2015, 25(4): 139-146.

DOI：10.1097/YPG.0000000000000090

• CNTNAP2
• genome-wide association study
• Japanese
• late-onset Alzheimer's disease

ObjectiveAlthough 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.DesignTo 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-epsilon 4 status to eliminate the established effect of APOE region.ResultsOur data indicated that 18p11.32 (rs1992269, P=9.77x10(-7)), CNTNAP2 (rs802571, P=1.26x10(-6)), and 12q24.23 (rs11613092, P=6.85x10(-6)) were suggestive loci for susceptibility to LOAD.ConclusionWe 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.

• 出版日期2015-8
• 单位RIKEN