論文

査読有り
2016年9月

Rare UNC13B variations and risk of schizophrenia: Whole-exome sequencing in a multiplex family and follow-up resequencing and a case-control study

AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
  • Jun Egawa
  • ,
  • Satoshi Hoya
  • ,
  • Yuichiro Watanabe
  • ,
  • Ayako Nunokawa
  • ,
  • Masako Shibuya
  • ,
  • Masashi Ikeda
  • ,
  • Emiko Inoue
  • ,
  • Shujiro Okuda
  • ,
  • Kenji Kondo
  • ,
  • Takeo Saito
  • ,
  • Naoshi Kaneko
  • ,
  • Tatsuyuki Muratake
  • ,
  • Hirofumi Igeta
  • ,
  • Nakao Iwata
  • ,
  • Toshiyuki Someya

171
6
開始ページ
797
終了ページ
805
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1002/ajmg.b.32444
出版者・発行元
WILEY

Rare genomic variations inherited in multiplex schizophrenia families are suggested to play a role in the genetic etiology of the disease. To identify rare variations with large effects on the risk of developing schizophrenia, we performed whole-exome sequencing (WES) in two affected and one unaffected individual of a multiplex family with 10 affected individuals. We also performed follow-up resequencing of the unc-13 homolog B (Caenorhabditis elegans) (UNC13B) gene, a potential risk gene identified by WES, in the multiplex family and undertook a case-control study to investigate association between UNC13B and schizophrenia. UNC13B coding regions (39 exons) from 15 individuals of the multiplex family and 111 affected offspring for whom parental DNA samples were available were resequenced. Rare missense UNC13B variations identified by resequencing were further tested for association with schizophrenia in two independent case-control populations comprising a total of 1,753 patients and 1,602 controls. A rare missense variation (V1525M) in UNC13B was identified by WES in the multiplex family; this variation was present in five of six affected individuals, but not in eight unaffected individuals or one individual of unknown disease status. Resequencing UNC13B coding regions identified five rare missense variations (T103M, M813T, P1349T, I1362T, and V1525M). In the case-control study, there was no significant association between rare missense UNC13B variations and schizophrenia, although single-variant meta-analysis indicated that M813T was nominally associated with schizophrenia. These results do not support a contribution of rare missense UNC13B variations to the genetic etiology of schizophrenia in the Japanese population. (c) 2016 Wiley Periodicals, Inc.

Web of Science ® 被引用回数 : 14

リンク情報
DOI
https://doi.org/10.1002/ajmg.b.32444
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/26990377
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000382871600005&DestApp=WOS_CPL

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