School of Forensic Medicine, China Medical University, Shenyang, China.
Brain Behav. 2019 Feb;9(2):e01193. doi: 10.1002/brb3.1193. Epub 2019 Jan 18.
Epidemiological studies found that genetic factors are among the causes of schizophrenia, exclusively the genes involved in the dopamine system. Prior to this, the role of dopamine receptor D2 (DRD2) gene promoter polymorphisms and schizophrenia has been studied extensively, but there are still some uncertainties about these associations. The present study is focusing on the association between the DRD2 gene promoter region polymorphisms and schizophrenia in the northern Chinese Han population.
We sequenced 2,111-bp fragment of DRD2 gene promoter region in 306 schizophrenic patients and 324 healthy controls to find association between DRD2 and schizophrenia. SPSS version 18 0.0 was used to calculate odds ratios (OR), 95% confidence intervals (CIs).The Hardy-Weinberg equilibrium test and the confirmation of haplotypes were calculated using Haploview version 4.1. The association of schizophrenic risk of DRD2 genotypes, alleles, and haplotypes between case and control groups was calculated using the chi-squared test. PS program was used to calculate the Power analysis.
The genotype frequencies of rs7116768 (p = 0.025) and rs1799732 (p = 0.042) were associated meagerly. After Bonferroni correction, there was no association found between DRD2 gene promoter region with schizophrenia risk in the northern Chinese Han population.
In this study, we did not find any significant difference between schizophrenia and the polymorphisms of DRD2 gene promoter region. A more forceful conclusion remains to be verified by further confirmatory experiments.
流行病学研究发现,遗传因素是精神分裂症的病因之一,尤其是涉及多巴胺系统的基因。在此之前,多巴胺受体 D2(DRD2)基因启动子多态性与精神分裂症的关系已被广泛研究,但这些关联仍存在一些不确定性。本研究专注于中国北方汉族人群中 DRD2 基因启动子区域多态性与精神分裂症的相关性。
我们对 306 例精神分裂症患者和 324 例健康对照者的 DRD2 基因启动子区域 2111bp 片段进行测序,以寻找 DRD2 与精神分裂症之间的关联。使用 SPSS 版本 18.0 计算比值比(OR)和 95%置信区间(CI)。使用 Haploview 版本 4.1 计算 Hardy-Weinberg 平衡检验和单倍型确认。使用卡方检验计算病例组和对照组之间 DRD2 基因型、等位基因和单倍型的精神分裂症风险关联。使用 PS 程序计算功效分析。
rs7116768(p=0.025)和 rs1799732(p=0.042)的基因型频率略有相关。经过 Bonferroni 校正后,中国北方汉族人群 DRD2 基因启动子区域与精神分裂症风险之间没有关联。
在这项研究中,我们没有发现 DRD2 基因启动子区域多态性与精神分裂症之间存在任何显著差异。需要进一步的验证性实验来得出更有力的结论。