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Rivista sulle Malattie del Cuore e dei Vasi
Official Journal of the Italian Society of Angiology and Vascular Pathology
Indexed/Abstracted in: EMBASE, PubMed/MEDLINE, Science Citation Index Expanded (SciSearch), Scopus
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Minerva Cardioangiologica 2016 Aprile;64(2):114-20
Association between 1019C/T polymorphism in the connexin 37 gene and dilated cardiomyopathy
J. TANG 1, 2, L. LI 1, L. Q. HU 2, Q. Y. CAI 2, L. CHEN 2 ✉
1 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; 2 Department of Geriatric Cardiology Provincial Hospital Affiliated to Anhui Medical University, HeFei, China
BACKGROUND: The aim of this paper was to investigate the association between the connexin 37 (CX37) 1019C/T polymorphism and susceptibility to dilated cardiomyopathy (DCM).
METHODS: 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.
RESULTS: 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).
CONCLUSIONS: 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.