Related Experiment Video
Updated: Jun 27, 2025
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Correlations of IL-1 and IL-6 Gene polymorphisms with hypertrophic cardiomyopathy
Nanchao Liu1, Chaoquan Liu2, Yongning Wu3
1Department of Cardiovascular Medicine, Hainan West Central Hospital, Danzhou, China. liunanchao1@163.com.
Insights
Interleukin-1 (IL-1) and Interleukin-6 (IL-6) gene polymorphisms are linked to hypertrophic cardiomyopathy (HCM) susceptibility and progression. Specific gene variants correlate with disease development and clinical indicators in HCM patients.
Area of Science:
- Genetics
- Cardiology
- Molecular Biology
Background:
- Hypertrophic cardiomyopathy (HCM) is a complex genetic heart disease.
- The role of specific cytokine gene polymorphisms in HCM pathogenesis is not fully understood.
- Interleukin-1 (IL-1) and Interleukin-6 (IL-6) are key inflammatory cytokines with potential roles in cardiovascular disease.
Purpose of the Study:
- To investigate the association between IL-1 and IL-6 gene polymorphisms and hypertrophic cardiomyopathy (HCM).
- To explore the correlation of these polymorphisms with clinical parameters and serum expression levels in HCM patients.
Main Methods:
- Case-control study involving 200 HCM patients and 200 healthy controls.
- Analysis of IL-1 and IL-6 gene polymorphisms (rs1878320, rs1474347, rs1516792, rs2069831) and serum expression levels.
- Conjoint analysis with cardiac color Doppler ultrasound findings, including interventricular septal (IVS) thickness, left ventricular outflow tract (LVOT) dimensions, and left ventricular ejection fraction (LVEF).
Main Results:
- Significant differences in allele and genotype distributions of IL-1 rs1878320 and IL-6 rs1474347 between HCM patients and controls.
- Specific genotypes (e.g., IL-1 TC, IL-6 CA) and haplotypes (IL-1 AC) were associated with increased HCM risk.
- Polymorphisms in IL-1 rs1516792 correlated with serum IL-1 levels and HCM presence; IL-1 rs1878320, IL-1 rs1516792, and IL-6 rs2069831 showed associations with IVS, LVOT, and LVEF, respectively.
Conclusions:
- IL-1 and IL-6 gene polymorphisms are significantly associated with the susceptibility and progression of hypertrophic cardiomyopathy.
- Specific genetic variants may serve as biomarkers for HCM risk stratification and understanding disease mechanisms.
- Further research is warranted to elucidate the functional impact of these polymorphisms on cardiac structure and function.
Abstract:
The purpose of this study was to explore the correlations of interleukin-1 (IL-1) and IL-6 gene polymorphisms with hypertrophic cardiomyopathy (HCM). A total of 200 patients with HCM were enrolled as disease group, and 200 healthy individuals were included as control group. Peripheral blood was collected from all subjects in both disease and control groups. Gene polymorphisms and serum expression levels of IL-1 and IL-6 were detected, and conjoint analysis was performed based on results of cardiac color Doppler ultrasound examination. The allele distribution of IL-1 rs1878320 showed a difference between disease and control groups (P=0.000). The frequency of the allele T was lower in disease group. The genotype distribution of IL-1 rs1878320 (P=0.001) and IL-6 rs1474347 (P=0.000) in disease group was different from that in control. The frequency of TC genotype of IL-1 rs1878320 was lower in disease group, and that of CA genotype of IL-6 rs1474347 was higher in disease group. There was a difference in the distribution of the dominant model of IL-6 rs1474347 between disease and control groups (P=0.021), and the frequency of CC + CA in the dominant model was 171 (0.855). The frequency of AC haplotype of IL-1 gene was overtly higher in disease group (P=0.000), while the frequency of AT haplotype was lower in disease group (P=0.000). The IL-1 rs1516792 polymorphism had an association with serum IL-1 level (P<0.05), the IL-1 level was notably increased in the patients with the genotype AA, and it was higher in disease group. The polymorphism of rs1878320 locus in IL-1 gene was correlated with interventricular septal (IVS) (P=0.047), and IVS was reduced in the patients with TC genotype. The polymorphism of rs1516792 locus in IL-1 gene was distinctly related to left ventricular outflow tract (LVOT) (P=0.041), and LVOT was lowered in the patients with GG genotype. The IL-6 rs2069831 polymorphism was associated with left ventricular ejection fraction (LVEF) (P=0.035), and LVEF declined in the patients with TT genotype. The IL-1 and IL-6 gene polymorphisms are correlated with the susceptibility and progression of HCM.
