新疆维吾尔族代谢综合征患者CETP基因单体型和连锁不平衡分析  

Haplotype and linkage disequilibrium analysis of CETP gene in metabolic syndromein patients in Uygur of Xinjiang

作　　者：李毓 王海霞[1] 胡云华[1] 张向辉[1] 郭恒[1] 何佳[1] 闫贻忠 马儒林[1] 郭淑霞[1] Li Yu;Wang Haixia;Hu Yunhua;Zhang Xianghui;Guo Heng;He Jia;Yan Yizhong;Ma Rulin;Guo Shuxia(Department of Preventive Medicine,School of Medicine,Shihezi University ,Shihezi,Xinjiang 832000,China)

机构地区：[1]石河子大学医学院预防医学系

出　　处：《石河子大学学报（自然科学版）》2019年第3期362-370,共9页Journal of Shihezi University(Natural Science)

基　　金：国家自然科学基金项目(81560551)

摘　　要：目的探索胆固醇酯转运蛋白(CETP)基因多态位点之间的连锁不平衡和单体型对新疆维吾尔代谢综合征(MS)及其各组分的影响。方法遵从成组匹配原则,经性别匹配后从前期调查的5692名维吾尔族成年人中随机选择280例代谢综合征患者和291例健康对照者,用多重单碱基延伸单核苷酸多态性(SNP)分型技术检测CETP基因六个位点(rs5882、rs1800775、rs3764261、rs12149545、rs711752和rs708272)多态性。结果(1)rs1800775、rs3764261、rs12149545、rs711752和rs708272位点的基因型和等位基因频率分布在对照组和病例组之间差异有统计学意义(P<0.05)。(2)rs1800775、rs3764261、rs12149545、rs711752和rs708272位点多态性均与维吾尔族MS密切相关(P<0.05)。(3)rs1800775位点多态性与空腹血糖升高、低高密度脂蛋白胆固醇(HDL-C)血症有关;rs3764261与rs12149545位点多态性均与中心性肥胖、空腹血糖升高、高甘油三酯(TG)血症、低HDL-C血症有关;rs711752位点多态性与低HDL-C血症有关;rs708272位点多态性与高TG血症、低HDL-C血症有关。(4)rs3764261位点与rs12149545位点(D’=1.000,r^2=0.931),rs711752位点与rs708272位点(D’=1.000,r^2=0.996)间存在完全连锁不平衡。(5)A-A-T-A-A-T(P<0.001,OR=0.435,95%CI=0.306-0.620)和G-A-T-A-A-T(P=0.042,OR=0.648,95%CI=0.426-0.986)单体型在对照组的频率高于病例组。结论CETP基因位点多态性(rs1800775、rs3764261、rs12149545、rs711752和rs708272)与维吾尔族MS及其各组分间均密切相关;rs3764261位点与rs12149545位点以及rs711752位点与rs708272位点之间存在完全连锁不平衡关系;A-A-T-A-A-T和G-A-T-A-A-T单体型可能是维吾尔族人群中MS的保护因素。Objective To explore the effec t of haplotype and linkage disequilibrium of CEPT gene on MS and its components.Methods According to the principle of group matching,280 metabolic syndrome patients and 291 healthy controls were randomly selected from 5692 Uygur adults in the previous survey after matching gender.The polymorphisms of CETP gene(rs5882,rs1800775,rs3764261,rs12149545,rs711752 and rs708272)was investigated by SNaPshot method.Results(1)The distributing difference of genotype and allelic frequencies of rs1800775,rs3764261,rs12149545,rs711752 and rs708272 between the control and case group were statistically different.(P<0.05).(2)The polymorphism of rs1800775,rs3764261,rs12149545,rs711752 and rs708272 were correlated with Uygur MS(P<0.05).(3)The rs1800775 polymorphism was related with high fasting blood glucose and low HDL-C;rs3764261 and rs12149545 polymorphisms were associated with central obesity,high fasting blood glucose,high TG,low was associated with low HDL-C,rs708272 polymorphism was associated with high TG and low HDL-C.(4)Significant linkage disequilibrium was observed between the rs3764261 and rs12149545(D’=1.000,r 2=0.931),the rs711752 and rs708272(D’=1.000,r 2=0.996).(5)The frequency of A-A-T-A-A and G-A-T-A-A-T haplotype in the control group was higher than that in the case group.Conclusions The CEPT polymorphism(rs1800775,rs3764261,rs12149545,rs711752 and rs708272)was associated with MS and its components in Uygur ethnic group.There is a complete linkage disequilibrium between the rs3764261 and rs12149545,the rs711752 and rs708272.A-A-T-A-A-T and G-A-T-A-A-T haplotypes might be protective factors for MS.

关 键 词：CETP基因 多态性 代谢综合征 维吾尔族 

分 类 号：R259[医药卫生—中西医结合]