SOCS3基因多态性与新疆维吾尔族人胰岛素抵抗的相关性

Association of SOCS3 gene polymorphisms with insulin resistance in Xinjiang Uygur population

目的研究细胞因子信号转导抑制因子3（suppressor of cytokine signaling 3，SOCS3）基因多态性与新疆维吾尔族胰岛素抵抗的相关性。方法研究对象来自新疆和田地区1292例维吾尔族人肥胖等代谢性疾病的横断面调查研究，胰岛索抵抗病例组323例（胰岛素抵抗指数≥2．96），正常对照组969例（胰岛素抵抗指数〈2．96）。从数据库中选取3个标签单核苷酸多态性位点应用TaqMan—PCR在自然人群中进行基因型鉴定及病例对照关联研究。结果男性人群中rs4969168变异位点在对照组及胰岛素抵抗组中的频率分布的差异有统计学意义（χ2=7．216，P=0．027），而在总人群及女性人群中rs4969168变异基因型频率分布在病例组及对照组间差异均无统计学意义（P〉0．05）。总人群、男性人群及女性人群中rs4969168变异不同基因型组间各项胰岛素抵抗数量性状差异均无统计学意义（P〉0．05），但男性人群中的空腹胰岛素及体重指数在GG、AG、AA3组中呈递增趋势，而在总人群及女性人群中未发现上述现象。男性人群中胰岛素抵抗病例组单倍型（rs12953258C-rs4969168A-rs9914220C）的频率明显高于对照组（P=0．023）。Logistic回归分析提示男性人群中rs4969168变异AG基因型为胰岛素抵抗的保护性因素（OR=1．772，95％CI：11081～2．906，P=0．023）。结论SOCS3基因变异位点rs4969168可能与新疆维吾尔族男性胰岛素抵抗相关。

Objective To assess the association of suppressor of cytokine signaling 3 （SOCS3）gene polymorphisms with insulin resistance （IR） in Xinjiang Uygur population. Methods A cross-sectional study on metabolic diseases, e. g. , obesity, was conducted on ethnic Uygurs in Hetian, Xinjiang of China. A total of 1292 Uygur individuals were enrolled. The sample size for IR subjects [homeostasis model assessment for insulin resistance （HOMA-IR）≥2.96] was 323, whereas that for non-IR controls was 969 （HOMA-IR〈 2.96）. Representative variations were selected from database and genotyped with TaqMan polymerase chain reaction method. For the relatively isolated population from a homogeneous environment, a case-control study was conducted to assess the association between variations of SOCS3 gene and IR. Results A significant difference in genotype distribution of rs4969168 was detected between IR and control groups in males （χ2= 7,216,P= 0. 027）. Although the IR-related quantitative phenotypes did not significantly differ between individuals with GG, AG and AA genotypes of rs4969168 in the overall, male and female population （P〉0.05）, the mean of body mass index and the median of fasting insulin increased in individuals with GG, AG, AA genotypes in males. Haplotype 2 （rs12953258C-rs4969168A-rs9914220C） was significantly associated with a higher prevalence of IR in males （P= 0. 023）. Logistic regression analysis indicated that AG genotype of rs4969168 variation is a protective factor for IR in males （OR= 1. 772, 95% confidence interval=1. 081-2. 906, P=0. 023）. Conclusion Our study suggested that the rs4969168 polymorphism of SOCS3 gene is associated with IR in ethnic Uygur population from Xinjiang, China.