論文

査読有り
2017年11月

Rare PDCD11 variations are not associated with risk of schizophrenia in Japan

PSYCHIATRY AND CLINICAL NEUROSCIENCES
  • Satoshi Hoya
  • ,
  • Yuichiro Watanabe
  • ,
  • Akitoyo Hishimoto
  • ,
  • Ayako Nunokawa
  • ,
  • Naoshi Kaneko
  • ,
  • Tatsuyuki Muratake
  • ,
  • Naofumi Shinmyo
  • ,
  • Ikuo Otsuka
  • ,
  • Shujiro Okuda
  • ,
  • Emiko Inoue
  • ,
  • Hirofumi Igeta
  • ,
  • Masako Shibuya
  • ,
  • Jun Egawa
  • ,
  • Naoki Orime
  • ,
  • Ichiro Sora
  • ,
  • Toshiyuki Someya

71
11
開始ページ
780
終了ページ
788
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1111/pcn.12564
出版者・発行元
WILEY

Aim: Rare gene variations are thought to confer substantial risk for schizophrenia. We performed a three-stage study to identify rare variations that have a strong impact on the risk of developing schizophrenia.
Methods: In the first stage, we prioritized rare missense variations using whole-exome sequencing (WES) data from three families, consisting of a proband, an affected sibling, and parents. In the second stage, we performed targeted resequencing of the PDCD11 coding region in 96 patients. In the third stage, we conducted an association study of rare PDCD11 variations with schizophrenia in a total of 1357 patients and 1394 controls.
Results: Via WES, we identified two rare missense PDCD11 variations, p.(Asp961Asn) and p.(Val1240Leu), shared by two affected siblings within families. Targeted resequencing of the PDCD11 coding region identified three rare non-synonymous variations: p.(Asp961Asn), p.(Phe1835del), and p.(Arg1837His). The case-control study demonstrated no significant associations between schizophrenia and four rare PDCD11 variations: p.(Asp961Asn), p.(Val1240Leu), p.(Phe1835del), and p.(Arg1837His).
Conclusion: Our data do not support the role of rare PDCD11 variations in conferring substantial risk for schizophrenia in the Japanese population.

Web of Science ® 被引用回数 : 5

リンク情報
DOI
https://doi.org/10.1111/pcn.12564
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/28657695
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000415192700004&DestApp=WOS_CPL

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