FTO基因多态性与中国西北地区维吾尔族2型糖尿病的关联性研究  

Correlation between Polymorphism of FTO Gene and Type 2 Diabetes Mellitus in Uygur People from Northwest China

作　　者：肖珊[1] 曾小云[1] 权莉[1] 朱筠[1] 

机构地区：[1]新疆医科大学第一附属医院内分泌科,乌鲁木齐市830000

出　　处：《医学分子生物学杂志》2015年第3期132-137,共6页Journal of Medical Molecular Biology

基　　金：国家重点基础研究发展规划项目（973计划）（No.2012CB722403）

摘　　要：目的：研究中国西北维吾尔族人群FTO（fat mass and obesity associated）基因3个单核苷酸多态性（SNP）与2型糖尿病（type 2 diabetes mellitus， T2 DM）及BMI（body mass index）的相关性。方法采用病例？对照研究的方法，在新疆医科大学第一附属医院、喀什第一人民医院及吐鲁番地区医院住院患者中收集维吾尔族T2 DM患者849例，选择同期在该医院体检中心进行体检的健康对照873例，进行体格检查及生化指标测定；采用Sequenom MassARRAYRSNP技术检测FTO基因3个SNP位点，通过Hardy？Weinberg遗传平衡定律分析对照组各SNP的群体代表性；通过t检验分析两组各临床指标的差异；通过χ2检验分析两组各SNP基因型及等位基因的差异。结果 T2 DM 组的 BMI、腰围（WL ）、收缩压（SBP ）、舒张压（DBP）、空腹血糖（FPG）、总胆固醇（TC）、门冬氨酸氨基转移酶（AST）、丙氨酸氨基转移酶（ALT）高于对照组，高密度脂蛋白（HDL）及低密度脂蛋白（LDL）低于对照组。 T2 DM组rs8050136及rs9939609的A等位基因频率高于对照组。整体人群及T2 DM组中rs8050136的基因型C／A＋A／A组较C／C组的BMI大， rs9939609的基因型T／A＋A／A组较T／T组的BMI水平高。将BMI按照正常、超重、肥胖进行分层后，在BMI正常组中 T2 DM 组及对照组的 rs9939609基因型分布频率有统计学差异。结论 FTO 基因的rs7195539的单核苷酸突变可能是维吾尔族T2 DM的保护性因素。 rs8050136及rs9939609的单核苷酸突变可能与维吾尔族T2 DM及肥胖有关联， A为其风险等位基因。 rs8050136基因多态性与T2 DM的关联可能是通过BMI起作用，而rs9939609基因多态性与T2 DM的关联是独立于BMI存在的。Objective To explore the correlation between 3 single nucleotide polymorphisms （ SNPs） of fat mass and obesity associated （ FTO） gene and type 2 diabetes mellitus （ T2 DM） or body mass index （ BMI） in the Uygur population in northwest China-Methods The case-control study method was used-A total of 849 Uygur patients with T2 DM were selected from the First Affili-ated Hospital of Xinjiang Medical University, the First People’s Hospital of Kashi and the hospitals in the Turpan areas-At the same time, 873 cases of healthy persons who underwent a medical checkup in the physical examination centre of the above hospitals were enrolled as controls-The physical examination and biochemical index determination were carried out in these subjects-The Se-quenom MassARRAY technology was employed to detect 3 SNP loci of the FTO gene-The represent-ative population of each SNP in the control group was analyzed by Hardy-Weinberg law-The differ-ences of each clinical parameter between the two groups were analyzed byt-test analysis-The differ- ences of genotype and allele of each SNP between the two groups were analyzed byχ2 test-Results BMI, waistline （ WL） , systolic blood pressure （ SBP） , diastolic blood pressure （ DBP） , fasting blood glucose （ FBG ） , total cholesterol （ TC ） , aspartate aminotransferase （ AST ） and alanine aminotransferase （ ALT） in the T2 DM group were greater than those in the control group, while the high density lipoprotein （ HDL） and low density lipoprotein （ LDL） were lower in the T2 DM group than in the control group-The allele frequency of A of rs8050136 and rs9939609 in the T2 DM group was higher than in the control group-In the whole population and T2 DM group, the BMI in subjects with genotype C/A＋A/A of rs8050136 was higher than that in those with C/C, and the BMI in subjects with genotype T/A ＋A/A of rs9939609 was higher than that in those with T/T-After stratification of BMI according to the criteria （ normal, overweight and obesity �

关 键 词：FTO基因 基因多态性 2型糖尿病 维吾尔族 

分 类 号：R587[医药卫生—内分泌]