Related Experiment Video
Updated: Nov 20, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Association of Interleukin-10 -592 C > A gene polymorphism with coronary artery disease: A case-control study and
Marzieh Ghalandari1, Khadijeh Jamialahmadi2, Maryam Mardan Nik3
1Cardiovascular Research Center, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Insights
This study investigated the Interleukin-10 (IL-10) -592 C>A genetic variant
Area of Science:
- Genetics
- Cardiology
- Immunology
Background:
- Coronary artery disease (CAD) is a leading global cause of mortality.
- Interleukin-10 (IL-10), an anti-inflammatory cytokine, is linked to atherosclerosis and acute coronary events.
- Identifying reliable CAD risk markers is crucial for early intervention.
Purpose of the Study:
- To explore the association between the IL-10 -592 C>A polymorphism and CAD risk and severity.
- To conduct a systematic review and meta-analysis on the IL-10 -592 C>A polymorphism and CAD in the Iranian population.
Main Methods:
- Cross-sectional study of 948 individuals (307 controls, 641 CAD patients) from the Mashhad Stroke and Heart-Atherosclerotic-Disorders cohort.
- Genotyping of the IL-10 -592 C>A polymorphism using PCR-RFLP.
- Systematic review and meta-analysis of relevant studies up to October 2019.
Main Results:
- The variant A allele of IL-10 -592 C>A was more frequent in CAD patients (P=0.043).
- Individuals with the AA genotype had a significantly higher CAD risk (OR: 1.8, 95%CI: 1.04-3.16, P=0.03).
- Meta-analysis (9336 cases, 8461 controls) showed no significant association in dominant/recessive models, but a significant association in a co-dominant model with fixed effect.
Conclusions:
- Our findings suggest a potential association between the IL-10 gene polymorphism and cardiovascular disease risk.
- This association was not consistently confirmed by the meta-analysis.
- Further multicenter studies and functional analyses are required to validate its role as a risk stratification marker.
Background:
Coronary-artery-disease (CAD) is the leading cause of death worldwide, and hence there is a need to identify reliable markers for identifying individuals at high risk of developing CAD. Interleukin-10 (IL-10) is an anti-inflammatory cytokine that is associated with an increased risk of developing both atherosclerosis and acute coronary events. The study aimed to explore the association of a genetic variant in IL-10 with the risk of developing CAD and the severity of the disease. To further explore, a systematic review and meta-analysis was performed. The cumulative results of the relationship between IL and 10 -592 C > A polymorphism and CAD in Iranian population have also been presented.
Methods:
In this cross sectional study, a total of 948 individuals including 307 healthy controls and 641 patients that among cases, four hundred and fifty-five of the patients had > 50% stenosis (angiogram positive group) and 186 patients had < 50% stenosis (angiogram negative group) were recruited from the Mashhad-Stroke and Heart-Atherosclerotic-Disorders cohort. Genotyping for the IL-10 -592 C > A polymorphism was performed using a PCR-RFLP technique, and statistical analysis undertaken by univariate and multivariate analyses. PubMed, Google Scholar and Scopus were searched for papers related to this polymorphism up to October 2019. The Meta-analysiswas done based on the random effect model using a Meta-analysis.
Results:
In our study, the frequency of the variant A allele of the IL-10 -592 C > A was significantly higher in CAD patients than the control group (P value = 0.043). Moreover, subjects carrying AA genotype had a significantly higher risk of CAD (OR: 1.8, 95%CI: 1.04-3.16), p = 0.03), compared to those with the wild type genotype. The results of meta-analysis of 9336 cases and 8461 controls did not also show any significant association between IL and 10 -592 C > A and CAD in dominant and recessive genetic models but only in co-dominant model when fix effect was applied.
Conclusion:
Although our research findings support a significant association of genetic polymorphism in the IL10 gene with cardiovascular diseases, this finding cannot be confirmed in meta-analysis. Further functional analysis and evaluation of this marker in a multicenter setting are needed to establish its value as a risk stratification marker.
Related Concept Videos
Single Nucleotide Polymorphisms-SNPs
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Coronary Artery Disease I: Introduction
Coronary Artery Disease II: Pathophysiology
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...
Atherosclerosis II: Clinical Manifestations and Diagnostic Tests

