哈萨克族人胰岛素抵抗与Furin基因变异的关系  

Relationship between genetic variation of Furin and insulin resistance in Chinese Kazakh population

作　　者：王红梅[1,3] 李南方[1,4] 洪静[4] 周玲[4] 张菊红[4] 王新玲[4] 朱沂[5] 沈岩[2] 

机构地区：[1]中国医学科学院北京协和医学院基础学院博士后流动站,100005 [2]中国医学科学院北京协和医学院医学分子生物学国家重点实验室,100005 [3]中国医学科学院北京协和医学院新疆维吾尔自治区人民医院博士后工作站,100005 [4]中国医学科学院北京协和医学院高血压诊疗研究中心,100005 [5]中国医学科学院北京协和医学院神经内科,100005

出　　处：《中华心血管病杂志》2012年第10期849-853,共5页Chinese Journal of Cardiology

基　　金：国家自然科学基金（81060030）

摘　　要：目的探讨哈萨克族人胰岛素抵抗与Furin基因变异的关系。方法以哈萨克族自然人群横断面流行病学调查为基础，进行病例对照研究。对50例胰岛素抵抗者（女性25例，男性25例）的Furin基因启动子、外显子区进行测序，筛查其代表性变异。在哈萨克族自然人群中（共861例，其中男性366例、女性495例；胰岛素抵抗组254例，对照组607例），采用TaqManPCR技术对筛查出的Furin代表性变异进行分型，分析其与哈萨克族人胰岛素抵抗的关系。结果在50例胰岛素抵抗患者中，共筛查出Furin的12个变异位点，其中代表性变异位点4个（rs6226、rs6227、rs2071410、rs4932178）。在861例哈萨克族人中，胰岛素抵抗组与对照组rs6226、rs6227、rs2071410、rs4932178的基因型频率差异均无统计学意义（P均〉0．05）。4个代表性变异位点的不同基因型携带者之间的胰岛素抵抗指数差异均无统计学意义（P均〉0．05）。结论Furin基因变异与哈萨克族人胰岛素抵抗无关，该变异可能不是哈萨克族人胰岛素抵抗的易感因素。Objective To investigate the relationship between genetic variation of Furin and insulin resistance in Chinese Kazakh population. Methods Based on a cross-sectional epidemiological study in a Chinese Kazakh population, a case-control study was conducted. All the sequence variants located promoter and exon regions of Furin were identified by directly sequencing of PCR product in 50 （25 males）individuals with insulin resistance, which were randomly chosen from the study population. The representative polymorphism was detected by TaqMan PCR in 861 subjects （366 males, 254 in case group and 607 in control group）. The relationship between genetic variation of Furin and insulin resistance in this cohort was analyzed. Results Twelve genetic variations in Furin were identified by sequencing 50 individuals with insulin resistance and 4 common SNPs （rs6226, rs6227, rs2071410, and rs4932178） were selected as representatives for genotyping in this Chinese Kazakh population. The rs6226, rs6227, rs2071410, and rs4932178 polymorphisms were successfully genotyped. The distribution of the genotypes of rs6226, rs6227, rs2071410, and rs4932178 polymorphism was similar between case and controls （all P 〉 0.05）. The homeostasis model assessment for insulin resistance （HOMA-IR） levels was also similar among individuals with different genotypes （ all P 〉 0.05 ）. Conclusion The genetic variation of Furin is not associated with insulin resistance in this cohort of Chinese Kazakh population.

关 键 词：胰岛素抗药性 变异(遗传学) 少数民族 

分 类 号：R587[医药卫生—内分泌]