Related Experiment Video
Updated: Aug 17, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Genetic Association between Polymorphisms of Interleukin-32 and Dilated Cardiomyopathy in Chinese Han Population
Ying Peng1, Xuemei Zhong1, Yanyun Wang2
1Department of Cardiology, West China Hospital, Sichuan University, No. 37 GuoXue Xiang, Chengdu, Sichuan 610041, China.
Insights
Interleukin-32 gene variations, specifically rs12934561, are linked to an increased risk of dilated cardiomyopathy (DCM) in the Chinese Han population. This finding suggests rs12934561 may help identify individuals at higher risk for DCM.
Area of Science:
- Genetics
- Cardiology
- Immunology
Background:
- Dilated cardiomyopathy (DCM) is a primary heart muscle disease and a leading cause of heart failure.
- It is the most common reason for heart transplantation globally.
- Inflammatory cytokines and immune responses are implicated in DCM pathogenesis, with Interleukin-32 (IL-32) being a key proinflammatory cytokine.
Purpose of the Study:
- To investigate the association between Interleukin-32 gene polymorphisms (rs12934561 and rs28372698) and susceptibility to dilated cardiomyopathy.
- To explore the potential of IL-32 gene variants as risk factors for DCM.
Main Methods:
- Genotyping of two single-nucleotide polymorphisms (SNPs) in the IL-32 gene (rs12934561 and rs28372698) using polymerase chain reaction-restriction fragment length polymorphism.
- Statistical analysis of data from 418 DCM patients and 437 healthy controls using SPSS software.
Main Results:
- The C allele and CC genotype of rs12934561 were significantly more frequent in DCM patients (P < 0.001).
- The A allele and AA genotype of rs28372698 were significantly less frequent in DCM patients (P = 0.004 and P = 0.02).
- CC homozygotes for rs12934561 showed an increased risk of DCM, particularly in patients with left ventricular ejection fraction ≤ 30% (P = 0.02).
Conclusions:
- IL-32 gene polymorphisms may contribute to the risk of developing dilated cardiomyopathy in the Chinese Han population.
- The rs12934561 polymorphism could serve as a predictive factor for identifying individuals at high risk for DCM.
Background:
Dilated cardiomyopathy is a primary myocardial disease and one of the critical causes of heart failure. It is the most common indication for heart transplantation worldwide, and most idiopathic dilated cardiomyopathies are sporadic and multifactorial. Evidence has supported that several inflammatory cytokines and immune responses are involved in its pathological process. Interleukin-32 is a proinflammatory cytokine and is elevated during the worsening cardiac function. Herein, we evaluated the correlation between interleukin-32 gene polymorphisms (rs12934561 and rs28372698) and the susceptibility to dilated cardiomyopathy.
Methods:
We enrolled 418 dilated cardiomyopathy patients and 437 healthy controls. The polymerase chain reaction-restriction fragment length polymorphism method was used for genotyping the two single-nucleotide polymorphisms (SNPs), and SPSS software was used for statistical analyses.
Results:
The C allele and CC genotype frequencies of rs12934561 were remarkably elevated in dilated cardiomyopathy patients compared to controls (both P < 0.001). The A allele and AA genotype frequencies of rs28372698 significantly decreased in dilated cardiomyopathy patients (P = 0.004 and P = 0.02, respectively). Compared to TT/TC genotype carriers of rs12934561, CC homozygotes presented an increased risk of dilated cardiomyopathy when the left ventricular ejection fraction no more than 30% (P = 0.02).
Conclusions:
The IL-32 gene polymorphisms might implicate in DCM risk in the Chinese Han population, and rs12934561 could be a potential forecasting factor for screening high-risk population for DCM.
Related Concept Videos
Cardiomyopathy II: Dilated Cardiomyopathy
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Single Nucleotide Polymorphisms-SNPs
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Cardiomyopathy IV: Restrictive Cardiomyopathy

