多巴胺受体1基因遗传多态性与偏执型精神分裂症在中国北方汉族群体中的关联分析

Analysis of Dopamine Receptor 1 Genetic Polymorphisms Associated with Paranoid Schizophrenia in Northern Chinese Han Population

目的:探讨多巴胺受体1基因(dopamine receptor 1 gene,DRD1)与偏执型精神分裂症在中国北方汉族群体中的关联性。方法:收集213例健康无关个体和173例偏执型精神分裂症患者的临床资料及外周静脉血并提取DNA,采用PCR扩增-DNA测序方法对样品进行基因分型,对2组间的基因型、等位基因频率和所构成的单倍型进行统计学分析。结果:rs5326位点的AG+GG基因型和rs4532位点的AG+GG基因型均会降低偏执型精神分裂症发生的风险。各个单倍型在2组间未观察到频率分布差异。男性群体中rs5326位点基因型频率分布、女性群体中rs4532位点基因型频率分布在疾病组和对照组间差异有统计学意义。结论:DRD1基因可能与精神分裂症的发生具有关联性。

Objective： To investigate the association between dopamine receptor 1 gene（ DRD1） and paranoid schizophrenia in northern Chinese Han population. Methods： There were blood samples of 213 cases of healthy unrelated individuals and 173 cases of patients with paranoid schizophrenia,and DNA was extracted and amplified by PCR-DNA sequencing. The samples were genotyped between the two groups,and statistical analysis was done in the allele frequencies and haplotypes. Results： The rs5326 site AG ＋GG genotype and rs4532 site AG ＋ GG genotype would reduce the risk of paranoid schizophrenia. Each haplotype frequencies between the two groups were not observed in distribution difference. In the male population,rs5326 locus genotype frequencies between disease and control groups were statistically different. In the female population,rs4532 locus genotype frequencies between disease and control groups were statistically different. Conclusion： DRD1 gene may have a correlation with the incidence of schizophrenia.