MISC

1997年4月

A functional polymorphism in the promoter region of the dopamine D2 receptor gene is associated with schizophrenia

HUMAN MOLECULAR GENETICS
  • T Arinami
  • ,
  • M Gao
  • ,
  • H Hamaguchi
  • ,
  • M Toru

6
4
開始ページ
577
終了ページ
582
記述言語
英語
掲載種別
DOI
10.1093/hmg/6.4.577
出版者・発行元
OXFORD UNIV PRESS

An excess dopaminergic activity may be implicated in the etiology of schizophrenia. Our objective was to identify nucleotide variants in the 5' region of the dopamine D2 receptor gene (DRD2) and to clarify their effects on schizophrenia. We identified two polymorphisms, the A-241G and -141C Ins/Del, by examination of 259 bp in the 5'-flanking region and 249 bp of exon 1 of DRD2, Reporter constructs containing the -141C Del allele cloned into a luciferase reporter plasmid drove 21% (Y-79 cells) and 43% (293 cells) expression compared with the -141C Ins allele, In a case-control study, the -141C Del allele frequency was significantly lower in 260 schizophrenic patients than in 312 controls (OR = 0.60, 95% CI 0.44-0.81, P<0,001), No significant association was found between the A-241G polymorphism and in vitro luciferase activity, or in allele frequency between the patients versus controls, These findings show that the -141C Ins/Del may be a functional polymorphism in the 5'-promoter region of DRD2 and may affect the susceptibility to schizophrenia.

Web of Science ® 被引用回数 : 365

リンク情報
DOI
https://doi.org/10.1093/hmg/6.4.577
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:A1997WT54600010&DestApp=WOS_CPL

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