Related Experiment Video
Updated: Apr 19, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Association between 1019C/T polymorphism in the connexin 37 gene and dilated cardiomyopathy
1The 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 - guo13665103927@163.com.
Insights
The connexin 37 (CX37) C allele is linked to increased dilated cardiomyopathy (DCM) risk in Chinese Han individuals. Female carriers of the CX37 C allele face a higher DCM risk than males.
Area of Science:
- Genetics
- Cardiology
- Molecular Biology
Background:
- Dilated cardiomyopathy (DCM) is a significant cardiovascular disease.
- Genetic factors play a role in DCM susceptibility.
- The connexin 37 (CX37) gene is implicated in cardiac function.
Purpose of the Study:
- To investigate the association between the CX37 1019C/T polymorphism and DCM risk.
- To determine if CX37 gene variations influence susceptibility to dilated cardiomyopathy in a Han Chinese population.
Main Methods:
- A case-control study involving 873 DCM patients and 816 controls from China.
- Genotyping of the CX37 1019C/T polymorphism using DNA sequencing.
- Statistical analysis to compare allele and genotype frequencies between groups.
Main Results:
- The CX37 C allele was significantly more frequent in DCM patients (57.33%) than in controls (42.03%).
- Carriers of the C allele (CC+TC genotypes) had a 2.05-fold increased risk of DCM compared to TT homozygotes.
- Stratified analysis revealed higher DCM risk for C allele carriers in both males (OR=1.64) and females (OR=2.32), with a more pronounced effect in females.
Conclusions:
- The CX37 C allele is associated with an increased susceptibility to DCM in the Han Chinese population.
- Female carriers of the CX37 C allele exhibit a greater risk for DCM compared to TT homozygotes than male carriers.
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.
Related Concept Videos
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Cardiomyopathy II: Dilated Cardiomyopathy
Cardiomyopathy I: Introduction and Classification
Cardiomyopathy V: Interprofessional Care
Cardiomyopathy IV: Restrictive Cardiomyopathy

