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

发布时间：2018-07-07 22:03

本文选题：原发性高血压 + 胆固醇酯转运蛋白基因　；参考：《中国现代医学杂志》2017年06期

【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(P0.05);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。
[Abstract]:Objective to investigate the association between cholesterol ester transporter (CETP) gene TaqIBSDA D442GFI405V polymorphism and its haplotype with essential hypertension (EH) in Chinese Mongolian population. Methods A case-control study was conducted in 883 patients with hypertension and 1 044 healthy controls in Inner Mongolia. Genotypes of polymorphic loci were identified by polymerase chain reaction (PCR) and direct sequencing of PCR products. Hardy-Weinberg equilibrium and haplotype analysis were performed by Haploview. Results there was no significant difference in the distribution of genotype and allele between EH group and control group (P0.05), but the distribution frequency of B2-GnB2-G-I haplotype in EH group was lower than that in control group [B _ 2-GO ~ ^ R _ (0.359) (95CIW 0.1880.689) P0.001B _ 2-G-I: O ~ ^ 0.329 (95CI: 0.157c0.691) P0. 002]. Conclusion the mutations at the 3 loci of TaqIBD442GfU I405V in Mongolian population in Inner Mongolia Autonomous region of China can not independently affect the risk of EH, but the risk of EH in haplotype B2-GnB2-G-I carriers is significantly reduced. It may be a protective factor to reduce the susceptibility to EH in this population.
【作者单位】：齐齐哈尔医学院基础医学院;中国医学科学院基础医学院;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;齐齐哈尔医学院医药科学研究院;
【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)
【分类号】：R544.11

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