CETP基因多态性及单倍型与蒙古族人群原发性高血压的关系  

Associations of CETP gene polymorphisms and haplotypes with essential hypertension in Chinese Mongolian population

作　　者：牛淑冬[1] 陶晓明[2] 李宇[1] 刘勇跃 王建 丛明宇[1] 周文郁[2] 邱长春[4] 

机构地区：[1]齐齐哈尔医学院基础医学院,黑龙江齐齐哈尔161006 [2]中国医学科学院基础医学院,北京100005 [3]内蒙古自治区通辽市疾病控制和预防中心流行病学教研室,内蒙古通辽028099 [4]齐齐哈尔医学院医药科学研究院,黑龙江齐齐哈尔161006

出　　处：《中国现代医学杂志》2017年第6期38-43,共6页China Journal of Modern Medicine

基　　金：国家自然科学基金(No:31440054;31371208);美国中华医学基金(No:CMB96-657);北京市自然科学基金重点项目(No:7001004)

摘　　要：目的分析胆固醇酯转运蛋白(CETP)基因TaqIB、D442G、I405V多态性及其单倍型与中国蒙古族人群原发性高血压(EH)的相关性。方法从内蒙古自治区随机选取高血压患者883例、健康对照1 044例进行病例对照研究。应用聚合酶链反应(PCR)和PCR产物直接测序法鉴定多态性位点的基因型,采用Haploview进行Hardy-Weinberg平衡和单倍型分析。结果 TaqIB、D442G2、I405V基因型及等位基因的分布在EH组与对照组比较,差异无统计学意义(P>0.05);但B2-G、B2-G-I单倍型在EH组中的分布频率低于对照组[B2-G:O~^R=0.359(95%CI:0.188,0.689)P=0.001;B2-G-I:O~^R=0.329(95%CI:0.157,0.691)P=0.002]。结论在中国内蒙古自治区蒙古族人群中,CETP基因TaqIB、D442G、I405V 3个位点的突变不能独立影响EH发病风险,但单倍型B2-G、B2-G-I携带者的EH发病风险显著降低,可能是降低该人群EH易感性的保护性因素。Objective To explore the associations of cholesteryl ester transfer protein （CETP） gene TaqIB, D442G and 1405V polymorphisms and haplotypes with essential hypertension （EH） in Chinese Mongolian population. Methods In this case-control study, 883 hypertensive patients （EH group） and 1,044 normal controls （control group） were randomly selected from the Inner Mongolia Autonomous Region, China. Polymerase chain reaction （PCR） and direct sequencing of PCR product were used to identify the genotypes. Hardy-Weinberg （H-W） equilibrium and haplotypes distribution were analyzed using the Haploview software.Results There were no significant differences in the distributions of the alleles or genotypes of TaqIB, D442G or 1405V between the EH group and the control group （P〉0.05）; while the distribution frequencies of B2-G and B2-G-I haplotypes were significantly lower in the EH group than in the control group [B2-G： O^R =0.359 （95% CI： 0.188, 0.689）, P = 0.001; B2-G-I： O^R = 0.329 （95% CI： 0.157, 0.691）, P = 0.002]. Conclusions The TaqIB, D442G and 1405V polymorphisms of the CETP gene could not independently affect the risk of developing EH in Mongolian population, while B2-G and B2-G-I haplotypes obviously decrease the susceptibility to EH and may be protective factors for the development of EH in Mongolian population.

关 键 词：原发性高血压 胆固醇酯转运蛋白基因 基因多态性 单倍型 蒙古族 

分 类 号：R544.1[医药卫生—心血管疾病]