前列腺六次跨膜蛋白2基因变异与维吾尔族人群代谢指标及肿瘤坏死因子的关系

 目的 探讨前列腺六次跨膜蛋白2(STAMP2)基因功能区变异与新疆维吾尔族人群代谢指标及TNFα的关系。方法 采用以流行病学调查为基础的病例研究,选取维吾尔族个体894例,以TNFα水平分组:高水平组(TNFα≥7.95 μg/L)313例,中水平组(TNFα>5.34~<7.95 μg/L)268例,低水平组(TNFα≤5.34 μg/L)313例。首先在小样本代谢综合征患者中测序筛查STAMP2基因的变异位点,采用TaqMan-PCR方法在大样本人群中进行基因型鉴定及关联研究。结果 在STAMP2基因功能区选取3个代表性变异位点(rs8122、rs1981529和rs34741656),rs8122和 rs1981529的基因型及等位基因分布在不同TNFα水平3组间差异有统计学意义(P<0.05),rs34741656的基因型及等位基因分布在3组间差异无统计学意义(P>0.05)。方差分析发现rs1981529多态AA基因型与AG基因型间的TNFα水平差异有统计学意义[(2.77±0.33) μg/L比(2.83±0.31) μg/L,P<0.05], STAMP2不同基因型间的TC、HDL-C、LDL-C、TG水平差异无统计学意义(P>0.05)。结论STAMP2基因变异与新疆维吾尔族人群TNFα相关。   

An association study of six-transmembrane protein of prostate 2 gene with metabolic index and tumour necrosis factor in Uygur population

Objective To explore the relationship between genetic polymorphisms of six-transmembrane protein of prostate 2 (STAMP2) and metabolic index,TNFα in Xinjiang Uygur population. Methods STAMP2 gene functional regions were sequenced in Uygur Xinjiang population diagnosed as metabolic syndrome. Patients were divided into the following three groups by their TNFα concentration: the high level group(TNFα≥7.95 μg/L,n=313),the moderate level group(TNFα >5.34-＜7.95 μg/L,n=268)and the low level group(≤5.34 μg/L,n=313). The selected representative variations were genotyped by TaqMan-PCR in 894 Uygur individuals. The association of the genetic variations of STAMP2 gene with metabolic index and TNFα was analyzed. Results Three representative variations were genotyped, including rs8122, rs1981529 and rs34741656. The genotype distribution and allele frequencies of rs8122 and rs1981529 were statistically different among the three groups(P<0.05), while no difference was observed with rs34741656(P>0.05). By ANOVA analysis, statistical difference was showed between the rs1981529 polymorphism AA and AG in the concentration of TNFα(P<0.05). None of the polymorphisms was significantly associated with TC, HDL-C, LDL-C and TG (P>0.05). Conclusion Two STAMP2 gene polymorphisms, rs8122 and rs1981529 are associated with the concentration of TNFα in Xinjiang Uygur population.