间隙性连接蛋白37基因1019C/T多态性与原发性高血压的关系

Association between 1019C/T polymorphism in connexin 37 gene and essential hypertension

目的 研究无锡地区人群中间隙性连接蛋白37 （connexin 37,CX 37）基因1019C/T多态性与原发性高血压的相关性.方法 入选在无锡市人民医院初次诊断为原发性高血压的患者1 126例,874名健康体检者作为正常对照组,均采用基因测序技术对CX37基因1019多态性位点基因型进行检测,比较两组人群中基因型及等位基因分布差异.结果 （1）两组人群中均存在CX 37基因1019C/T多态性,基因型分布均符合Hardy-Weinberg遗传平衡定律.（2）原发性高血压组与正常对照组相比,C等位基因分布频率升高（57.37％vs.42.05％,P＜0.01）.C等位基因携带者（CC＋TC）在原发性高血压组高于对照组,差异有统计学意义（80.46％ vs.66.70％,P＜0.01）.与Tr纯合子相比,（CC＋TC）基因型原发性高血压患病风险增加（OR=2.06,95％ CI：1.68～2.52）.对性别进行亚组分析显示：无论男性还是女性人群中原发性高血压组C等位基因携带者频率均显著高于正常对照组（男性：79.19％vs.69.05％,P＜0.01;女性：81.75％ vs.64.40％,P＜0.01）,C等位基因携带者原发性高血压患病风险明显高于TT型（男性：OR=1.71,95％CI：1.28～2.27;女性：OR=2.48,95％ CI：1.85～3.31）.结论 CX37 C等位基因可能与老年原发性高血压相关.

Objectives To investigate the association between the connexin 37 （CX37） 1019C/T polymorphism and the susceptibility to essential hypertension （EH） in elder Han population of Wuxi. Methods A total of 1 126 cases who were firstly diagnosed of EH in People＇s Hospital of Wuxi City were included, with 874 healthy people served as control group. All the cases were genotyped by DNA sequencing. Results of the two groups were compared. Results （ 1 ） 1019C/T polymorphism on CX37 gene was found in the whole population and the distributions of three genotype frequencies in both groups were in accordance with the Hardy-Weinberg equilibrium. （2）In comparison with healthy controls, the frequency of CX37 C allele was higher in EH patients （57.37% vs. 42.05%, P〈0.01）. The percentage of C carriers （CC＋TC） was 80.46% in EH patients, against 66.70% in healthy controls （P〈0.01）. The EH risk significantly increased in the carriers of C allele （CC＋TC） than in TT homozygous （OR=2.06, 95% CI： 1.68-2.52）. Subsequent stratified analysis demonstrated that a significant difference existed in the frequency of C carriers between the male EH patients and healthy controls （79.19 % vs.69.05%,P〈0.01）, as well as in the female EH patients （81.75 % vs. 64.40%, P〈0.01 ）. The carriers of C allele had higher EH risk compared with TI＇ homozygous without gender differences （male： OR=1.71, 95% CI： 1.28-2.27; female： OR=2.48, 95% CI： 1.85-3.31）. Conclusions The C allele in CX37 gene may be associated with the susceptibility to EH in elder population of Wuxi.