中文摘要：

目的研究新疆哈萨克族人高总胆固醇血症、高低密度脂蛋白胆固醇血症与弗林蛋白（Furin）基因变异的相关性。方法本研究是以横断面流行病学调查为基础的病例-对照研究，878例研究对象均来自新疆哈萨克族自然人群。测定48例随机选择的哈萨克族高胆固醇血症患者（女性24例、男性24例）弗林蛋白基因启动子、外显子区序列，筛查代表性变异。采用TaqManPCR分析弗林蛋白基因变异在878例哈萨克族自然人群（男性370例、女性508例）中的分型，分析其与哈萨克族人血总胆固醇、低密度脂蛋白胆固醇水平的相关性。结果在48例高胆固醇血症患者中，共筛查出弗林蛋白基因的12个变异，包括4个代表性变异（rs6226、rs6227、rs2071410、rs4932178）。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％）。在哈萨克族自然人群中，rs6226、rs6227、rs2071410、rs4932178多态性的基因型、等位基因、单体型频率分别在高胆固醇血症组、对照组间及高低密度脂蛋白胆固醇血症组、对照组间的分布差异均无统计学意义（P均〉0．05）；每个多态性的不同基因型携带者之间的血总胆固醇、低密度脂蛋白胆固醇平均水平差异无统计学意义（P均〉0．05）。结论新疆哈萨克族人高总胆固醇血症、高低密度脂蛋白胆固醇血症与弗林蛋白基因变异不相关，该变异可能不是哈萨克族人高胆固醇血症、高低密度脂蛋白胆固醇血症的易感因素。

英文摘要：

Objective To investigate the relationship between the genetic variation of Furin gene and the hypercholesterolemia and hyper-low-density lipoprotein eholesterolemia in Kazakh general population. MethodsBased on a cross-sectional epidemiological study in a Kazakh general population, a case-control study including 878 subjects was conducted. All the sequence variant-located promoters and exon regions of Furin gene were identified by the direct sequencing of PCR products in 48 randomly selected hypercholesterolemic individuals （24 males and 24 females） . After having genotyped the representative polymorphisms in 878 subjects by TaqMan PCR, we investigated the relationship between genetic variation of Furin and hypercholesterolemia/hyper-lowdensity lipoprotein cholesterolemia in these subjects. Results Twelve genetic variations in Furin gene were identified by sequencing 48 hypercholesterolemic individuals and 4 common single nucleotide polymorphisms （rs6226, rs6227, rs2071410, and rs4932178 ） were selected as the representatives for genotyping in these subjects. The rs6226, rs6227, rs2071410, and rs4932178 polymorphisms were successfully genotyped. The distribution of the genotypes, alleles, and haplotypes of rs6226, rs6227, rs2071410, and rs4932178 polymorphisms did not differ significantly between the hypercholesterolemia group and the control groups or between the hyper-low-density lipoprotein eholesterolemia group and the control groups （ all P 〉 0. 05 ） . The cholesterol and low-density lipoprotein cholesterol levels did not differ significandy among individuals with different genotypes （ all P 〉 0. 05 ） . Conclusion The genetic variation of Furin may not be associated with hypercholesterolemia or hyper-low-density lipoprotein cholesterolemia in Kazakh general population.