CAJ | 학술논문

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.
목적 탐토전렬선륙차과막단백2(STAMP2)기인공능구변이여신강유오이족인군대사지표급TNFα적관계.방법 채용이류행병학조사위기출적병례연구,선취유오이족개체894례,이TNFα수평분조:고수평조(TNFα≥7.95 μg/L)313례,중수평조(TNFα＞ 5.34 ～＜7.95 μg/L)268례,저수평조(TNFα≤5.34 μg/L)313례.수선재소양본대사종합정환자중측서사사STAMP2기인적변이위점,채용TaqMan-PCR방법재대양본인군중진행기인형감정급관련연구.결과 재STAMP2기인공능구선취3개대표성변이위점(rs8122、rs1981529화rs34741656),rs8122화rs1981529적기인형급등위기인분포재불동TNFα수평3조간차이유통계학의의(P＜0.05),rs34741656적기인형급등위기인분포재3조간차이무통계학의의(P＞0.05).방차분석발현rs1981529다태AA기인형여AG기인형간적TNFα수평차이유통계학의의[(2.77 ±0.33) μg/L비(2.83 ±0.31) μg/L,P＜0.05],STAMP2불동기인형간적TC、HDL-C、LDL-C、TG수평차이무통계학의의(P＞0.05).결론 STAMP2기인변이여신강유오이족인군TNFα상관.
Objective To explore the relationship between genetic polymorphisms of sixtransmembrane 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 rs8122and 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.