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

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Objective

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.

Design

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.

Results

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.

Conclusion

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.
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Keywords: CNTNAP2; Japanese; genome-wide association study; late-onset Alzheimer’s disease

Document Type: Research Article

Affiliations: 1: Laboratory for Genotyping Development, Center for Integrative Medical Sciences, RIKEN Yokohama Institute, Yokohama, Department of Medicine and Clinical Science 2: Laboratory for Genotyping Development, Center for Integrative Medical Sciences, RIKEN Yokohama Institute, Yokohama, Department of Neuropsychiatry, Department of Environmental Medicine, Graduate School of Medical Sciences, Kyushu University, Fukuoka 3: Laboratory for Genotyping Development, Center for Integrative Medical Sciences, RIKEN Yokohama Institute, Yokohama 4: Department of Psychiatry, Osaka University Graduate School of Medicine, Osaka 5: National Hospital Organization Yamato Mental Medical Center, Nara 6: Department of Neuropsychiatry, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama 7: Department of Psychiatry, Juntendo University School of Medicine, Tokyo 8: Choju Medical Institute, Fukushimura Hospital 9: Department of Psychiatry, Fujita Health University School of Medicine, Aichi 10: Department of Environmental Medicine, Graduate School of Medical Sciences, Kyushu University, Fukuoka 11: Department of Psychiatry, Faculty of Medicine, Saga University, Saga, Japan 12: Department of Medicine and Clinical Science 13: Department of Neuropsychiatry

Publication date: August 1, 2015

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