TNXB基因多态性与精神分裂症发病的遗传学关联性分析

Association analysis on TNXB gene polymorphisms and schizophrenia in Chinese Han population

目的:阐明TNXB基因多态性与中国北方汉族人群精神分裂症发病及其临床表型的关系。方法:收集779例中国北方汉族精神分裂症患者和983例健康人对照组全血样品,从中提取基因组DNA,采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)的方法,检测TNXB基因rs204887位点基因型。应用拟合优度χ2检验分析基因型频数分布是否符合Hardy-Weinberg平衡定律,应用χ2检验和数量性状分析分别进行等位基因、基因型以及各种临床表型的关联性分析。结果:TNXB基因rs204887位点的基因型频数分布在精神分裂症病例组和对照组均符合Hardy-Weinberg平衡定律(P>0.05)。等位基因关联分析,C和T等位基因在病例组和对照组中的频数分布比较差异无显著性(P>0.05);基因型关联分析,C/C、C/T和T/T3种基因型在病例组和对照组的频数分布比较差异无显著性(P>0.05);等位基因、基因型频数分布与精神分裂症各种临床表型均无关联(P>0.05)。结论:TNXB基因rs204887位点可能与中国北方汉族人群精神分裂症发病无关联。

Objective To elucidate the genetic association between TNXB gene polymorphisms and schizophrenia in a Han descent population in the north of China.Methods Genomic DNA was isolated from the whole blood samples.A single nucleotide polymorphism,rs204887（Rsa I site） present in the TNXB gene,was detected using PCR-based restriction fragment length polymorphism analysis among 779 Chinese Han patients with schizophrenia and 983 ethnicity-matched healthy controls.The Hardy-Weinberg equilibrium for genotypic distribution was estimated by the goodness-of-fit χ^2 test.The frequencies of alleles and genotypes of TNXB gene and the relationship between allelic frequencies and the clinical phenotypes of schizophrenia were statistically computed.Results The goodness-of-fit χ^2 test result showed that the genotypic distributions of rs204887 did not deviate from Hardy-Weinberg equilibrium in both patient group and control group（P〉0.05）.The χ2 test result did not show allelic association and genotypic association for rs204887（P〉0.05）.There were no correlations between allelic or genotypic frequencies and the clinical phenotypes of schizophrenia（P〉0.05）.Conclusion TNXB locus may not be associated with schizophrenia in a Han descent population in the north of China.