Tang J, Li L, Hu L Q, Cai Q Y, Chen L
The Key Laboratory of Cardiovascular Remodeling and Function Research, Department of Cardiology, Shandong University, Qilu Hospital, Chinese Ministry of Education and Chinese Ministry of Health, Jinan, Shandong, China -
Minerva Cardioangiol. 2016 Apr;64(2):114-20. Epub 2014 Dec 11.
The aim of this paper was to investigate the association between the connexin 37 (CX37) 1019C/T polymorphism and susceptibility to dilated cardiomyopathy (DCM).
Han Chinese diagnosed with DCM between 2005 and 2013 were studied, and they were compared with a control group of 816 persons without DCM from a patient cohort from the Provincial Hospital Affiliated to Anhui Medical University, China. A total of 873 patients with DCM were included. All study and control cases were genotyped by DNA sequencing.
Polymorphism C1019T on the Connexin37 gene (CX37) was found in the whole population. The distribution of three genotype frequencies in both groups was in accordance with Hardy-Weinberg equilibrium. The frequency of the CX37 C allele was higher in DCM patients (57.33% vs. 42.03%, P<0.01) compared to the control group. The frequency of C carriers (CC+TC) was 80.41% in DCM patients, compared to 66.7% in controls (P<0.01). DCM risk was significantly increased in carriers of the C allele (CC+TC) than in TT homozygotes (odds ratio [OR]=2.05, 95% confidence interval [CI]: 1.65-2.56). Subsequent stratified analyses demonstrate that a significant difference exists in the frequency of C carriers between male DCM patients and controls (77.61% vs. 69.04%, P<0.01) and in female DCM patients and controls (85.62 % vs. 62.19%, P<0.01). Carriers of the C allele had higher DCM risk compared with TT homozygotes with sex differences (male: OR=1.64, 95% CI: 1.39-1.95; female: OR=2.32, 95% CI: 1.84-2.94).
The C allele in the CX37 gene might be associated with susceptibility to DCM in Chinese Han. Female carriers of the C allele had higher DCM risk compared with TT homozygotes than males.
本文旨在研究连接蛋白37（CX37）1019C/T多态性与扩张型心肌病（DCM）易感性之间的关联。
对2005年至2013年间诊断为DCM的汉族患者进行研究，并将其与来自中国安徽医科大学附属省立医院患者队列中的816名无DCM的对照组人员进行比较。共纳入873例DCM患者。所有研究对象和对照者均通过DNA测序进行基因分型。
在整个人群中发现了连接蛋白37基因（CX37）上的C1019T多态性。两组中三种基因型频率的分布均符合哈迪-温伯格平衡定律。与对照组相比（57.33%对42.03%，P<0.01），DCM患者中CX37 C等位基因的频率更高。DCM患者中C携带者（CC+TC）频率为80.41%，而对照组为66.7%（P<0.01）。C等位基因携带者（CC+TC）的DCM风险显著高于TT纯合子（比值比[OR]=2.05，95%置信区间[CI]：1.65-2.56）。随后的分层分析表明，男性DCM患者与对照组之间（77.61%对69.04%，P<0.01）以及女性DCM患者与对照组之间（85.62%对62.19%，P<0.01）C携带者频率存在显著差异。与TT纯合子相比，C等位基因携带者具有更高的DCM风险，且存在性别差异（男性：OR=1.64，95% CI：1.39-1.95；女性：OR=2.32，95% CI：1.84-2.94）。
CX37基因中的C等位基因可能与中国汉族人群DCM易感性相关。与TT纯合子相比，C等位基因的女性携带者患DCM的风险高于男性。
