醛糖还原酶基因C-106T多态性与原发性高血压易感性及其种族差异(英文)  

Racial difference in aldose reductase C-106T genetic polymorphism and association with essential hypertension

作　　者：李玲[1,2] 李振宇[3] 程欢莲[1] 严谨[4] 胡凯[3] 王俊杰[1,5] 邓晓兰[1] 叶啟发[2] 欧阳冬生[1] 

机构地区：[1]中南大学临床药理研究所,长沙410078 [2]武汉大学中南医院肝胆疾病研究院,武汉430071 [3]中南大学湘雅医院神经内科,长沙410008 [4]中南大学湘雅三医院护理部,长沙410013 [5]湘南学院药理教研室,湖南郴州423000

出　　处：《中南大学学报（医学版）》2012年第2期156-160,共5页Journal of Central South University ：Medical Science

基　　金：supported by National Science-Technology Support Plan of China(SQ2010BAJY1411-08);National Development of Key Novel Drugs for Special Projects of China(2011ZX09302)

摘　　要：目的：研究中国汉族人群中醛糖还原（AR）C-106T基因多态性的分布情况,比较其频率分布是否存在种族差异,并探讨该多态性与原发性高血压易感性的相关性。方法：应用聚合酶链反应-限制性片段长度多态性（polymerase chain reaction-restriction fragment length polymorphism,PCR-RFLP）的分析方法,在148位原发性高血压病人和137位正常受试者中,对AR基因C-106T多态性进行基因分型。频数分布的比较采用卡方检验,基因型与高血压的关联程度采用95%置信区间评估。结果：对照人群中AR C-106T等位的频率为13.9%（95%CI：11.2%~16.6%）,远低于日本人群（n=712,18.4%,P=0.0063）,澳大利亚人群（n=240,37.9%,P〈0.0001）和巴西人群（n=62,34.7%,P〈0.0001）。高血压病例和对照人群中AR-C106T等位基因的频率分别为15.9%（95%CI：11.6%~20.0%）和11.7%（95%CI：7.9%~15.5%）,两组间基因型分布差异无统计学意义（P=0.147）。结论：醛糖还原酶AR基因C-106T多态性的频率分布具有明显的种族差异,该多态性与中国人群原发性高血压的发病风险不相关。Objective： To investigate the distribution of aldose reductase （AR） C-106T genetic polymorphism in Chinese Han population and its association with the risk for essential hypertension （EH）. Methods： The AR C-106T polymorphism was genotyped in 148 Chinese EH patients and 137 controls by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP）. The genotype distribution between groups was contrasted by χ 2 - test and the degree of genetic association was evaluated by 95% con dence interval （CI）. Results： Frequency of the variant AR C-106T allele was 13.9% （95% CI： 11.2%-16.6%） in the controls, which was signi cantly lower than that in the Japanese （18.4% in 712 individuals, P=0.0063）, the Australians （37.9% in 240 individuals, P0.0001） and the Brazilians （34.7% in 62 individuals, P 〈0.0001）. The frequency of AR C-106T allele was 11.7% （95% CI： 7.9%-15.5%） in the EH patients. No significant difference in the allele frequency was observed between the EH patients and the controls （P= 0.147）. Conclusion： There is obvious racial difference in the distribution of AR C-106T polymorphism. The polymorphism is not associated with the risk for EH.

关 键 词：醛糖还原酶 基因多态性 原发性高血压 

分 类 号：R544.1[医药卫生—心血管疾病]