细胞因子信号转导抑制分子3基因多态性与新疆维吾尔族人群原发性高血压的关系

Association between gene polymorphisms of suppressor of cytokine signaling 3and essential hypertension in Uygur Xinjiang population

目的探讨细胞因子信号转导抑制分子3(SOCS3)基因多态性与新疆维吾尔族原发性高血压(EH)的相关性。方法在新疆和田地区维吾尔族人群进行高血压流行病学调查,选取SOCS3基因功能区变异位点,应用TaqMan-PCR技术对921名维吾尔族人(EH患者427例,正常血压对照组494人)进行基因型测定,收集相关生化指标后进行研究。结果选取SOCS3基因功能区的3个代表性变异位点rs9914220,rs4969168,rs12953258,EH和对照组中均符合Hardy-Weinberg平衡检验。rs9914220基因型频率分布在EH组、对照组中差异有统计学意义(P=0.019),EH组CC纯合子出现频率比TT高。未见rs4969168、rs12953258位点与新疆维吾尔族人群EH相关(P>0.05);用Logistic回归校正影响血压的多个混杂因素(性别、年龄、体质量指数、腰臀比、血脂、空腹血糖、血清钠、血清钙、血清钾)后,rs9914220基因型CT仍为维吾尔族EH的独立保护因素(OR=0.358,95%CI 0.205～0.624,P=0.021),CC基因型也为维吾尔族EH的独立保护因素(OR=0.396,95%CI 0.227～0.690,P=0.010)。年龄>50岁、男性、超重和肥胖、高三酰甘油、高血清钙是新疆维吾尔族EH的危险因素。结论 SOCS3基因可能是EH易感基因之一,在新疆维吾尔族人群中rs9914220多态性CC纯合子血压水平较低,EH的患病风险较小。

Objective To investigate the relationship between genetic polymorphisms of suppressor of cytokine sig- naling 3（SOCS3） and essential hypertension of Uygur Xinjiang population. Methods The study registered 921 Uygur （including 427 hypertension patients and 494 normotensives controls） from Hetian area for hypertension epi- demiological survey. The representative determination of genotype variations were selected by TaqMan-PCR method in Uygur subjects, the association between genetic variations of SOCS3 and hypertension was analyzed by means of case-control study. Results In the three representative variations genotyped, rs9914220, rs4969168 and rs12953258, all the EH and control group were in Hardy-Weinberg equilibrium for three polymorphisms. There were significant differences of genotype distribution between hypertension and control subjects in rs9914220 polymor- phisms （P=0. 019）, and the frequency of CC was significantly higher than TT between hypertension patients and normotensives. But there were no significant differences of genotype distribution and allele frequencies between two groups for rs4969168 and rs12953258 polymorphisms. After adjusted by other risk factors for hypertension individ- uals in Uygur using logistic regression, including age, body mass index （BMI}, waist-hip ratio, fasting blood glu- cose, cholesterol, triglyceride, low-density lipoprotein, high-density lipoprotein, serum sodium, serum potassium, serum calcium, CT was still an independent protective factor for hypertension in Uygur population （OR= O. 358, 95% CI 0.205-0.624, P=0.021）, so did CC （OR=0.396, 95% CI 0.227-0.690, P=0.010）. More than 50 years old, male, overweight and obesity, high triglycerides and calcium were significant predictor factors associ- ated with all hypertension patients when comparing with controls. Conclusion SOCS3 gene may be one of susceptible genes of EH. Those who carry CC and CT genotypes of rs9914220 polymorphism of SOCS3 in Uygur population in Xiniiang are at reduced risks of EH.