硫氧还原蛋白结合蛋白基因多态性与精神分裂症的关联分析

Analysis of association between thioredoxin interacting protein gene polymorphism and schizophrenia

目的探索硫氧还原蛋白结合蛋白(TXNIP)基因与精神分裂症的关联关系。方法以182个精神分裂症核心家系为研究对象,应用聚合酶链反应和限制性片段长度多态性技术(PCR-RFLP)对TXNIP基因标签单核苷酸多态性(htSNP)rs9245进行基因分型;使用传递不平衡(TDT)、基于单体型的单体型相对危险度分析(HHRR)检测TXNIP基因与精神分裂症之间的关联关系。结果①患者组、父母组htSNPrs9245位点各基因型的分布均符合Hardy-Weinberg平衡法则(χ2值分别为0.68,0.02,df=1,P>0.05);②单体型相对风险分析(HHRR)显示htSNPrs9245位点等位基因在患者组和父母组的频数分布为χ2=3.42,P=0.064;③传递不平衡检验(TDT)分析显示,杂合子父母传递给受累子女与非传递等位基因频率分布为χ2=3.40,P=0.065,虽然差异未达到显著性,但接近边缘显著性。结论本研究虽未发现TXNIP基因htSNPrs9245与精神分裂症的发生存在关联,但不能排除两者的阳性关联,尚需选择更多SNP及扩大样本量进一步分析。

Objective： To explore the association between TXNIP gene and schizophrenia in Chinese Han Population. Methods： One polymorphic marker （htSNP rs9245） in TXNIP gene was genotyped in 182 schizophrenia nuclear family trios using polymerase chain reaction and restriction fragment length polymorphism （PCR- RFLP）. Results ：（1）The distribution of genotypic frequency of htSNP rs9245 did not deviate from the Hardy - Weinberg equilibrium either in the patient group or in the parent groups （χ^2 = 0.68 and 0.02 , df = 1 , P 〉0.05 respectively） ; （2） The haplotype - based haplotype relative risk test （HHRR） showed there was a marginal significant difference of frequency distribution of allele of htSNP rs9245 between patient group and parent groups （χ^2 = 3.42, P = 0. 064 ） ; （3）Transmission disequilibrium test （ TDT ） also showed a marginal significant biased transmission from parents to affected offspring （χ^2 = 3.40, P = 0. 065 ）. Conclusion ： The htSNP rs9245 located on TXNIP gene has a marginal significant association with schizophrenia. Further study should be conducted with enlarged sample and more markers in or around this gene region.