論文

査読有り
2017年8月

Rare FBXO18 variations and risk of schizophrenia: Whole-exome sequencing in two parent-affected offspring trios followed by resequencing and case-control studies

PSYCHIATRY AND CLINICAL NEUROSCIENCES
  • Satoshi Hoya
  • ,
  • Yuichiro Watanabe
  • ,
  • Akitoyo Hishimoto
  • ,
  • Ayako Nunokawa
  • ,
  • Emiko Inoue
  • ,
  • Hirofumi Igeta
  • ,
  • Ikuo Otsuka
  • ,
  • Masako Shibuya
  • ,
  • Jun Egawa
  • ,
  • Ichiro Sora
  • ,
  • Toshiyuki Someya

71
8
開始ページ
562
終了ページ
568
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1111/pcn.12526
出版者・発行元
WILEY

Aim: Rare variations are suggested to play a role in the genetic etiology of schizophrenia; to further investigate their role, we performed a three-stage study in a Japanese population.
Methods: In the first stage, we performed whole-exome sequencing (WES) of two parent-affected offspring trios. In the second stage, we resequenced the FBXO18 coding region in 96 patients. In the third stage, we tested rare non-synonymous FBXO18 variations for association with schizophrenia in two independent populations comprising a total of 1376 patients and 1496 controls.
Results: A rare frameshift variation (L116fsX) in the FBXO18 gene was recurrently identified by WES in both trios. Resequencing FBXO18 coding regions, we detected three rare non-synonymous variations (V15L, L116fsX, and V1006I). However, there were no significant associations between these rare FBXO18 variations and schizophrenia in the case-control study.
Conclusion: Our present study does not provide evidence for the contribution of rare non-synonymous FBXO18 variations to the genetic etiology of schizophrenia in the Japanese population. However, to draw a definitive conclusion, further studies should be performed using sufficiently large sample sizes.

Web of Science ® 被引用回数 : 1

リンク情報
DOI
https://doi.org/10.1111/pcn.12526
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/28317220
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000407267900007&DestApp=WOS_CPL

エクスポート
BibTeX RIS