Rs1076560, a functional variant of the dopamine D2 receptor gene, confers risk of schizophrenia in Han Chinese

Neuroscience Letters
Chunming ZhengQi Xu

Abstract

The dopamine receptor genes have been implicated in the pathogenesis of schizophrenia, but definitive evidence of association is still lacking. To identify whether functional variants of the D2-like receptors (DRD2, DRD3 and DRD4) confer risk of schizophrenia, we conducted a two-stage association study. We firstly examined the SNPs in functional genomic regions, such as mRNA splicing, protein coding and the promoter regions in DRD2, DRD3 and DRD4, respectively, for association in 289 Han Chinese cases with schizophrenia and 367 healthy controls and then further analyzed the significantly associated single nucleotide polymorphisms (SNPs) with this disorder in an additional Han Chinese sample consisted of 1351 cases and 1640 control subjects. In the first stage, the chi-square test (χ(2)) showed disease association for rs1076560 in DRD2 (p=0.040 for allelic association and p=0.033 for genotypic association, respectively). However, rs6280 in DRD3 and rs3758653 in DRD4 failed to show either allelic or genotypic association with the illness. The association between rs1076560 and schizophrenia was replicated in the second stage. The rs1076560-T allele, which shifts splicing from the D2 short isoform (D2S) to the D2 long isoform (D2L)...Continue Reading

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Citations

Dec 24, 2013·Annals of Human Genetics·Toni-Kim ClarkeWade H Berrettini
Sep 12, 2013·Journal of Affective Disorders·Yun-Hsuan ChangRu-Band Lu
Aug 16, 2016·Asian Journal of Psychiatry·Shuping Tan, Dengtang Liu
Jan 21, 2017·Neuroscience and Biobehavioral Reviews·Jurjen J LuykxMax de Leeuw

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