DRD3基因rs10934254位点多态性与牡丹江地区精神分裂症易感性相关

The rs10934254 polymorphism in DRD3 gene associated with the susceptibility to schizophrenia in Mudanjiang

目的探讨多巴胺受体基因多态性与牡丹江地区精神分裂症易感性之间的相关性。方法采取单纯随机抽样方法,选取2016年1月至2020年12月于牡丹江精神病院治疗的150例精神分裂症患者作为病例组,同时选取同期在牡丹江林业医院体检的160例正常个体为对照组。收集病例组和对照组外周全血样本,采用固相萃取法提取基因组DNA。选取DRD1基因rs5326位点,DRD3基因rs6280位点、rs10934254位点,ANKK1基因rs1800497位点,采用iMLDR技术进行基因分型。在病例组和对照组间利用卡方检验分析4个多态位点等位基因、基因型频率分布差异。结果rs10934254位点在加性模型、超显性模型下基因型频率在病例组和对照组中分布差异显著(P=0.036、P=0.038),且经性别、年龄校正之后仍具有统计学意义。在加性模型下,病例组基因型频率AA/GG为19.33%/22.00%,对照组基因型频率AA/GG为28.12%/25.00%,AA基因型相比于GG基因型可降低精神分裂症的易感风险;在超显性模型下,病例组基因型频率AA+GG/AG为41.33%/58.67%,对照组基因型频率AA+GG/AG为53.12%/46.88%,AA和GG基因型相比于AG基因型的可降低精神分裂症的易感风险。其它3个位点等位基因、基因型频率在病例组和对照组间分布差异无统计学意义(P>0.05)。结论DRD3基因rs10934254位点多态性与牡丹江地区精神分裂症易感性相关。

Objective To investigate the association between dopamine receptor genes polymorphisms and the susceptibility to schizophrenia(SCZ)in Mudanjiang.Methods According to the method of simple random sampling,150 patients with schizophrenic who were treated in Mudanjiang Psychiatric Hospital during January 2016 to December 2020 were recruited as the case group,160 normal individuals who had a physical examination in Mudanjiang Forestry Hospital at the same period time as the control group.Periphery whole blood samples of the case and control group were collected,genomic DNA was extracted by solid phase extraction.The rs5326 in DRD1,rs6280 and rs10934254 in DRD3,rs1800497 in ANKK1 gene were genotyped by improved Multiple Ligase Detection Reaction(iMLDR).The difference of the alleles and genotypes frequencies distribution of the four SNPs were analyzed between the case and control groups by chi-square test.Results The distribution of genotype frequencies of the rs0934254 in DRD3 gene under the additive and superdominant model were significantly different between the case and the control group(P=0.036,P=0.038),which were in agreement with sex and age adjustment.Under the additive model,the genotype frequency AA/GG of the case group was 19.33%/22.00%and that of the control group was 28.12%/25.00%.Compared with GG genotype,AA genotype can reduce the susceptibility risk of schizophrenia.Under the over-dominance model,the genotype frequency AA+GG/AG of the case group was 41.33%/58.67%,and that of the control group was 53.12%/46.88%,compared with AG genotype,AA and GG genotype can reduce the susceptibility risk of schizophrenia.However,there were no significant differences in the frequencies of allele and genotype of the other three SNPs(P>0.05).Conclusion The rs10934254 polymorphism in DRD3 gene is associated with the susceptibility to schizophrenia in Mudanjiang.