细胞周期素依赖性蛋白激酶抑制因子2A/2B基因多态性与维吾尔族2型糖尿病的关系研究  

Correlation Between Polymorphism of CDKN2A /2B Gene and Type 2 Diabetes Mellitus in Uygur People

作　　者：肖珊[1,3] 曾小云[1,3] 朱筠[1,3] 姚华[2,3] 苏银霞[2,3] 马琦[2,3] 

机构地区：[1]新疆医科大学第一附属医院内分泌科,新疆维吾尔自治区乌鲁木齐市830054 [2]新疆医科大学第一附属医院新疆代谢性疾病重点实验室,新疆维吾尔自治区乌鲁木齐市830054 [3]新疆医科大学第一附属医院糖尿病防诊治中心,新疆维吾尔自治区乌鲁木齐市830054

出　　处：《中国全科医学》2016年第10期1170-1177,共8页Chinese General Practice

基　　金：国家973科技项目(2012CB722403)--维吾尔族代谢综合征遗传差异及其与环境交互作用研究

摘　　要：目的探讨细胞周期素依赖性蛋白激酶抑制因子2A/2B(CDKN2A/2B)基因多态性与维吾尔族2型糖尿病(T2DM)的关系。方法选取2012年3月—2013年9月在新疆医科大学第一附属医院住院的维吾尔族T2DM患者1 000例作为T2DM组,及同期在本院体检的无糖尿病、无血缘关系的维吾尔族人群1 010例作为对照组。受试者均进行体格检查及生化指标测定;采用Sequenom Mass ARRAYSNP技术检测CDKN2A/2B基因2个T2DM易感位点;采用SPSS 21.0统计软件进行统计学分析;采用SNPStats在线软件进行遗传模型分析,并对基因型、单体型与BMI的交互作用进行分析。结果由于少量样本基因位点未检测成功,故最终位点rs10811661成功分型1 940例(其中对照组967例、T2DM组973例),位点rs564398成功分型1 962例(其中对照组和T2DM组均为981例)。两组位点rs10811661的基因型和等位基因分布间差异均有统计学意义(P<0.05);而位点rs564398的基因型和等位基因分布间差异无统计学意义(P>0.05)。在调整年龄、性别、BMI后,两组位点rs10811661的共显性、显性、超显性及加性遗传模型间差异均有统计学意义(P<0.05),其中加性遗传模型赤池信息准则(AIC)和施瓦兹贝叶斯信息准则(BIC)最小,分别为2 602.4、2 630.3;而隐性遗传模型间差异无统计学意义(P>0.05)。两组位点rs564398的各遗传模型间差异均无统计学意义(P>0.05)。与位点rs10811661表现为T/T基因型的体质量正常者比较,表现为T/T、T/C基因型的肥胖者发生T2DM的OR值分别为2.53〔95%CI(1.80,3.55)〕、2.17〔95%CI(1.50,3.13)〕,P<0.05。与位点rs564398表现为A/A基因型的体质量正常者比较,表现为A/A基因型的超重者和表现为A/A、A/G、G/G基因型的肥胖者发生T2DM的OR值为1.44〔95%CI(1.03,2.02)〕、2.79〔95%CI(1.99,3.91)〕、2.69〔95%CI(1.86,3.88)〕、4.81〔95%CI(2.49,9.29)〕,P<0.05。位点rs10811661表现为T/T基因型中的肥胖者较体质量正常者发生T2DM的OR值�Objective To investigate the correlation between CDKN2A/2B gene and type 2 diabetes mellitus（ T2DM） in Uygur people. Methods A total of 1 000 Uygur patients with T2 DM who were hospitalized in the First Affiliated Hospital of Xinjiang Medical University from March 2012 to September 2013 were enrolled as T2 DM group. In the same period,1 010 Uygur people who received physical examination in the hospital and had no diabetes and no genetic connection among each other were enrolled as control group. All the subjects underwent physical examination and tests on biochemical indexes. Sequenom Mass ARRAY  SNP was employed to detect the two loci susceptible to T2 DM in CDKN2 A /2B gene. SPSS 21. 0 statistical software was used for statistical analysis. We analysed genetic models, the interaction between genotype and BMI, and the interaction between haplotype and BMI using online software of SNPStats. Results Due to a small number of specimens that had unsuccessful gene loci detection,the total number of specimens detected with locus rs10811661 was 1 940（ 967 in control group and 973 in T2 DM group）,and that of specimen detected with locus rs564398 was 1 962（ 981 for both control group and T2 DM group）. There were statistical differences in the distribution of genotype and allele frequency of rs10811661 between T2 DM group and control group（ P 〈0. 05）,while there were no differences in the distribution of genotype and allele frequency of rs564398（ P 〈0. 05）. After adjustment for age,sex and BMI,the rs10811661 variants had significant differences between the two groups in co-dominant,dominant,over-dominant and additive models（ P 〈0. 05）,while there were no differences in recessive model; the AIC and BIC of additive model were smallest,respectively being 2 602. 4 and 2 630. 3. The rs564398 variants had no differences between the two groups in each model（ P 〈0. 05）. Compared with rs10811661 T / T genotype with normal weight,T / T and T / C genotype with obesity had higher risk of T2 DM,an

关 键 词：糖尿病 2型 细胞周期素依赖性蛋白激酶抑制因子2A/2B 维吾尔族 关系 

分 类 号：R512.62[医药卫生—内科学]