中文摘要：

目的 研究细胞因子信号转导抑制因子（SOCS）-3基因多态性与新疆维吾尔族人群糖代谢异常的关系。方法 将研究对象新疆和田地区1232名维吾尔族居民根据其不同血糖水平分为2型糖尿病患者252例（2型糖尿病组）,糖尿病前期患者451例（糖尿病前期组）和血糖正常者529名（正常对照组）。在HapMap数据库中挑选了3种SOCS-3基因的标签单核苷酸多态（rs12953258,rs4969168,rs9914220）,分析其在糖尿病前期组、2型糖尿病组和正常对照组的基因型和等位基因的频率分布及与维吾尔族人群糖代谢异常的相关性。结果 （1）3组间SNPrs12953258基因型和等位基因频率分布差异有统计学意义（P=0.041）,多分类logistic回归分析表明这一多态性可能是新疆维吾尔族人群糖尿病前期和糖尿病发生的危险因素,SNPrs12953258等位基因C和等位基因A的频率分布差异有统计学意义（χ2=7.866,P=0.020）,且CC基因型携带者发生糖尿病的风险是AC＋AA基因型携带者的1.756倍（95% CI1.168～2.640）。而rs4969168和rs9914220基因型和等位基因频率分布的差异无统计学意义（P〉0.05）。（2）以正常血糖组为参照水平,年龄、总胆固醇、体重指数是糖尿病的危险因素;总胆固醇和低高密度脂蛋白胆固醇为糖尿病前期的危险因素。结论 SOCS-3基因的rs12953258多态性C等位基因可能是新疆维吾尔族人群糖代谢异常的独立危险因素。

英文摘要：

Objective To investigate the relationship between SOCS-3 gene polymorphism and abnormal glucose metabolism in Xinjiang Uygur population. Methods According to different plasma glucose levels, 1 232 individuals in Xinjiang Hetian area were divided into 3 groups, 451 patients with pre-diabetes, 252 patients with type 2 diabetes mellitus, and 529 healthy people as normal controls. Based on HapMap, the polymorphisms rs12953258, rs4969168, rs9914220 were selected as haplotypes, tagging SNP（htSNP）sufficiently covering the genetic variation of the whole gene. Associations of rs12953258,rs4969168, and rs9914220 within SOCS-3 with abnormal glucose metabolism in three groups of Xinjiang Uygur population were examined; The genotype and allele frequencies and relative clinic data were compared among groups. Results The type 2 diabetes mellitus study with 451 individuals showed that the homozygosity for the C allele of rs12953258 polymorphism of SOCS-3 was associated with increased diabetes risk（OR=1.756, 95% CI 1.168-2.640）. In addition, association between rs4969168 or rs9914220 and abnormal glucose metabolism in the Xinjiang Uygur population was not found. Age, total cholesterol, and body mass index were risk factors of diabetes mellitus, total cholesterol and low high density lipoprotein-cholesterol were risk factors of pre-diabetes in Uygur people. Conclusions The C allele of rs12953258 polymorphism of SOCS-3 gene may be an independent risk factor for abnormal glucose metabolism in Xinjiang Uygur population.