HLA-G 3′UTR基因多态性与精神分裂症发生风险的相关性研究  

Association of HLA-G 3’UTR gene polymorphism with the risk of schizophrenia

作　　者：乔瑞娟 张守亮[2] 张晨光 QIAO Ruijuan;ZHANG Shouliang;ZHANG Chenguang(Department of Clinical Laboratory,the Third Affiliated Hospital of Xinxiang Medical University,Xinxiang 453003,China;Department of Clinical Laboratory,the Second Affiliated Hospital of Xinxiang Medical University,Xinxiang 453003,China;School of Laboratory Medicine of Xinxiang Medical University,Xinxiang 453003,China)

机构地区：[1]新乡医学院第三附属医院检验科,河南新乡453003 [2]新乡医学院第二附属医院检验科,河南新乡453003 [3]新乡医学院医学检验学院,河南新乡453003

出　　处：《安徽医学》2022年第12期1387-1391,共5页Anhui Medical Journal

基　　金：河南省科技攻关课题(项目编号:202102310182);新乡市科技攻关计划项目(项目编号:GG2020008);新乡医学院第三附属医院开放课题(项目编号:KFKTYB202126)。

摘　　要：目的探讨人类白细胞抗原G 3′非翻译区(HLA-G 3′UTR)单核苷酸多态性在精神分裂症患者中的分布情况及预测精神分裂症发生风险的价值。方法选取2016年1月至2017年10月新乡医学院第二附属医院收治的302例精神分裂症患者为病例组,采用聚合酶链式反应(PCR)技术和Sanger测序对病例组患者和327例健康对照者的HLA-G3′UTR区域位点进行基因分型,应用SHEsis软件比较两组等位基因频率、基因型频率及单倍体型频率差异,采用logistic回归模型对4种遗传模型(共显性、显性、隐性和超显性)进行分析。结果HLA-G 3′UTR区域共检测出10个多态性位点,有3个位点(14 bp ins/del、+3035 C/T、+3058 G/A)符合哈迪-温伯格平衡。两组间14 bp ins/del、+3058G/A位点等位基因及基因型频率差异无统计学意义(P>0.05),+3035 C/T位点等位基因分布差异有统计学意义(OR=1.522,95%CI:1.146~2.022,P=0.004),其基因型分布差异有统计学意义(P=0.019),+3035 C/T位点的共显性模型中,与CC基因型相比,携带CT基因型(OR=1.450,95%CI:1.019~2.062,P=0.039)和TT基因型(OR=2.275,95%CI:1.064~4.867,P=0.030)患精神分裂症风险相对较高;+3035 C/T位点的显性模型[(CT+TT)比CC,OR=1.547,95%CI:1.108~2.161,P=0.010)与精神分裂症的易感性相关;而在+3035 C/T位点的隐性模型和超显性模型中,两组间差异无统计学意义(P>0.05);由14 bp ins/del、+3035 C/T、+3058 G/A这3个位点组成的单倍型[H3(ICG)、H4(ITG)]频率在两组间差异有统计学意义(P<0.05)。结论HLA-G 3′UTR+3035 C/T位点多态性可能与精神分裂症的发病风险相关,其等位基因T可能是精神分裂症的易感基因。Objective To investigate the distribution of human leukocyte antigen G 3′untranslated region(HLA-G 3′UTR)single nucleotide polymorphisms in patients with schizophrenia and its possible predictive role.Methods Genotyping of HLA-G 3′UTR locus in 302 schizophrenics and 327 healthy controls was performed by PCR and Sanger sequencing.SHEsis software was used to compare allele frequency,genotype frequency and haploid frequency between the two groups.Four genetic models(co-dominant,dominant,recessive and over-dominant)were analyzed by Logistic regression analysis.Results A total of 10 polymorphic loci were detected in the HLA-G 3′UTR region,and 3 loci(14 bp ins/del,+3035 C/T,+3058 G/A)were consistent with Hardy-Weinberg.There were no significant differences in allele and genotype distribution in the 14 bp INS/Del and+3058 G/A loci between the two groups(P>0.05);There was a significant difference in the allele frequencies of the+3035 C/T locus(OR=1.522,95%CI:1.146~2.022,P=0.004),and the genotype distribution of this locus was also significantly different(P=0.019);In the co-dominant model of the+3035 C/T locus,compared with the CC genotype,the risk of schizophrenia with CT genotype(OR=1.450,95%CI:1.019~2.062,P=0.039)and TT genotype(OR=2.275,95%CI:1.064~4.867,P=0.030)was relatively higher;The dominant model of+3035 C/T locus[(CT+TT)vs CC,OR=1.547,95%CI:1.108~2.161,P=0.010)is also significantly associated with susceptibility to schizophrenia;In the recessive model and over-dominant model of+3035 C/T locus,no significant difference was found between the two groups(P>0.05);The frequencies of haplotype H3(ICG)and H4(ITG)composed of 14 bp INS/Del,+3035 C/T and+3058 G/A were significantly different between the two groups(P<0.05).Conclusion HLA-G 3′UTR+3035 C/T locus polymorphism may be associated with the risk of schizophrenia,and the T allele may be a susceptibility gene for schizophrenia.

关 键 词：人类白细胞抗原G 3′非翻译区 精神分裂症 单核苷酸多态性 

分 类 号：R749.3[医药卫生—神经病学与精神病学]