中文摘要：

目的研究哈萨克族人弗林蛋白基因（Furin）变异与中心性肥胖的相关性。方法以哈萨克族自然人群横断面流行病学调查为基础选取478例肥胖者和378名正常个体进行病例一对照研究。从肥胖者中随机选择66例，对其Furin启动子、外显子区测序筛查其代表性变异；并采用TaqManPCR技术对筛查出的Furin代表性变异在856名哈萨克族个体中进行分型，分析其与哈萨克族人肥胖的相关性。结果在478例肥胖者中随机选择66例（男女各33例），共筛查出Furin的12个变异，其中rs6226、rs6227、rs2071410、rs4932178是代表性变异；这4个代表性变异均在大样本哈萨克族人中基因型分型成功（成功率≥99％）；在总体、男性、女性哈萨克族自然人群中，rs6226、rs6227、rs2071410、rs4932178多态性位点的基因型、等位基因、单倍型频率在肥胖组及对照组分布差异无统计学意义（P〉0．05）；不同基因型携带者之间的腰围平均水平差异也无统计学意义（P〉0．05）。结论Furin变异与新疆哈萨克族中心性肥胖不相关，该变异可能不是哈萨克族人中心性肥胖的易感因素。

英文摘要：

Objective To assess the association between sequence variation of Furin gene and obesity in ethnic Kazakh population in Xinjiang region. Methods Based on a cross-sectional epidemiological study, a ease-control study was conducted. All sequence variants located promoter and exon regions of Furin gene were identified with direct sequencing of PCR products from 66 randomly chosen obese individuals （33 males and 33 females）. Polymorphisms representative of a general ethnic Kazakh population （856 subjects, including 364 males and 492 females, 478 from obesity group and 378 from control group） were determined by TaqMan PCR, the association between sequence variation of Furin gene and obesity was assessed. Results Twelve sequence variations in Furin gene were identified through sequencing of 66 obese individuals. And 4 common SNPs （rs6226, rs6227, rs2071410 and rs4932178） were selected as representative polymorphisms for the general Kazakh population. Above polymorphisms were successfully typed in all subjects. Distribution of the genotypes, alleles, and haplotypes formed by such polymorphisms did not differ significantly between the case and control group or males and females （P〉0.05）. The waist circumference also did not differ significantly among individuals with different genotypes （P〉0.05）. Conclusion Genetic variations of Furin gene are not associated with obesity in Kazakh general population.