論文

査読有り 国際誌
2021年3月

Ethnic and trans-ethnic genome-wide association studies identify new loci influencing Japanese Alzheimer’s disease risk

Translational Psychiatry
  • Daichi Shigemizu
  • Risa Mitsumori
  • Shintaro Akiyama
  • Akinori Miyashita
  • Takashi Morizono
  • Sayuri Higaki
  • Yuya Asanomi
  • Norikazu Hara
  • Gen Tamiya
  • Kengo Kinoshita
  • Takeshi Ikeuchi
  • Shumpei Niida
  • Kouichi Ozaki
  • 全て表示

11
1
開始ページ
151
終了ページ
151
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1038/s41398-021-01272-3
出版者・発行元
Springer Science and Business Media LLC

<title>Abstract</title>Alzheimer’s disease (AD) has no cure, but early detection and risk prediction could allow earlier intervention. Genetic risk factors may differ between ethnic populations. To discover novel susceptibility loci of AD in the Japanese population, we conducted a genome-wide association study (GWAS) with 3962 AD cases and 4074 controls. Out of 4,852,957 genetic markers that passed stringent quality control filters, 134 in nine loci, including <italic>APOE</italic> and <italic>SORL1</italic>, were convincingly associated with AD. Lead SNPs located in seven novel loci were genotyped in an independent Japanese AD case–control cohort. The novel locus <italic>FAM47E</italic> reached genome-wide significance in a meta-analysis of association results. This is the first report associating the <italic>FAM47E</italic> locus with AD in the Japanese population. A trans-ethnic meta-analysis combining the results of the Japanese data sets with summary statistics from stage 1 data of the International Genomics of Alzheimer’s Project identified an additional novel susceptibility locus in <italic>OR2B2</italic>. Our data highlight the importance of performing GWAS in non-European populations.

リンク情報
DOI
https://doi.org/10.1038/s41398-021-01272-3
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/33654092
PubMed Central
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7925686
URL
http://www.nature.com/articles/s41398-021-01272-3.pdf
URL
http://www.nature.com/articles/s41398-021-01272-3
ID情報
  • DOI : 10.1038/s41398-021-01272-3
  • eISSN : 2158-3188
  • PubMed ID : 33654092
  • PubMed Central 記事ID : PMC7925686

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