CACNA1C基因多态性与中国新疆维吾尔族精神分裂症患者的相关性研究

Correlation between CACNA1C gene polymorphism and schizophrenia of uygur patients in Xinjiang China

目的:探究L型钙离子通道α1C亚基(CACNA1C)多态性与新疆维吾尔族精神分裂症患者的相关性。方法:选取2010年5月至2016年5月在我区治疗的新疆维吾尔族精神分裂症患者985例为病例组,并以2016年1月至5月健康体检者1123例为对照组。采用Taqman探针分型对CACNA1C基因rs1006737、rs2239015位点进行基因分型,观察等位基因及基因型与精神分裂症发病风险的关系;比较两组CACNA1C基因rs1006737、rs2239015位点基因型与等位基因频率;比较两组阳性与阴性症状量表(PANSS)评分;分析CACNA1C基因rs1006737位点(A/G)、rs2239015位点(C/T)多态性与精神分裂症及PANSS评分的相关性。结果:病例组rs1006737位点A等位基因频率低于对照组(P<0.05);经多元Logistic回归分析,精神分裂症家族史、CACNA1C基因rs1006737位点(GG型)、rs2239015位点(TT型)与精神分裂症患病因素呈正相关(P<0.05)。结论:新疆维吾尔族精神分裂症患者CACNA1C基因rs1006737位点(GG型)、rs2239015位点(TT型)基因检出率较高,并且CACNA1C基因rs1006737位点(GG型)、rs2239015位点(TT型)与患者PANSS量表评分呈正相关,可能是精神分裂症的危险因素。

Objective:To explore the correlation between gene polymorphism of calcium channel,voltage-dependent,L type,alpha1C subunit(CACNA1C)and schizophrenia of Uygur patients in Xinjiang.Method:985 Uygur patients with schizophrenia in Xinjiang who were treated in this area from May 2010 to May 2016 were enrolled as case group,while 1123 healthy controls from January 2016 to May 2016 were enrolled as control group.The genotyping was conducted for CACNA1C gene at rs1006737 and rs2239015 loci by Taq-man assay.The relationship between alleles,genotypes and onset risk of schizophrenia was observed.The frequencies of CACNA1C gene genotypes and alleles at rs1006737 and rs2239015 loci,and scores of Positive And Negative Symptom Scale(PANSS)were compared between the two groups.The correlation between CACNA1C gene polymorphism at rs1006737(A/G)and rs2239015(C/T)loci and schizophrenia,PANSS scores was analyzed.Results:The frequency of A gene at rs1006737 locus in the case group was lower than that in the control group(P<0.05).The multivariate Logistic regression analysis showed that family history of schizophrenia and CACNA1C gene polymorphisms GG type at rs1006737 and TT type at rs2239015 loci were positively correlated with schizophrenia(P<0.05).Conclusion:The detection rates of CACNA1C gene of GG type at rs1006737 and TT type rs2239015 loci are relatively higher in schizophrenic patients.CACNA1C gene polymorphisms GG type at rs1006737 and TT type at rs2239015 loci are positively correlated with schizophrenia,which are risk factors of schizophrenia.