A genetic polymorphism in the promoter region of DRD4 associated with expression and schizophrenia.

Abstract:

:The human dopamine D4 receptor gene (DRD4) is an important candidate gene for schizophrenia. We identified a novel -521C>T polymorphism in the 5'-promoter region of DRD4. A transient expression method revealed that the T allele of this polymorphism reduces the transcriptional efficiency by 40% compared with the C allele. This polymorphism is of interest because of reported elevation of D4-like sites and DRD4 mRNA in the postmortem schizophrenic brain. The C allele frequency was significantly higher in 252 Japanese schizophrenics (0.48) than in 269 Japanese controls (0.41) (p = 0. 02) [odds ratio = 1.35 (95% confidence interval 1.05 - 1.72)]. Although the association is weak and should be considered tentative until other studies replicate it, this polymorphism provides a tool with the potential to examine whether DRD4 is related to susceptibility to and neuroleptic response in schizophrenia.

authors

Okuyama Y,Ishiguro H,Toru M,Arinami T

doi

10.1006/bbrc.1999.0630

subject

Has Abstract

pub_date

1999-05-10 00:00:00

pages

292-5

issue

2

eissn

0006-291X

issn

1090-2104

pii

S0006-291X(99)90630-7

journal_volume

258

pub_type

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