Related Experiment Video
Updated: Mar 16, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Association between interleukin-17A polymorphism and coronary artery disease susceptibility in the Chinese Han
1Department of Cardiothoracic Surgery, First Affiliated Hospital of Xinxiang Medical University, Xinxiang, Henan, China.
Insights
Genetic variations in the Interleukin-17A (IL-17A) gene are linked to increased susceptibility to coronary artery disease (CAD). Specific IL17A polymorphisms may play a role in CAD development, highlighting IL-17A
Area of Science:
- Immunogenetics
- Cardiovascular Disease Research
- Molecular Biology
Background:
- Coronary artery disease (CAD) presents a significant global health challenge, with rising incidence and mortality rates in China.
- Interleukin-17A (IL-17A), a pro-inflammatory cytokine produced by T cells, is implicated in CAD pathogenesis.
- Genetic variations within the IL17A gene may influence an individual's risk for developing CAD.
Purpose of the Study:
- To investigate the association between specific single nucleotide polymorphisms (SNPs) in the IL17A gene and the risk of CAD.
- To analyze the role of functional IL17A polymorphisms in the development of coronary artery disease.
Main Methods:
- A case-control study was conducted analyzing five functional SNPs (rs8193037, rs8193036, rs3819024, rs2275913, and rs3748067) in the IL17A gene.
- Allelic and genotypic frequencies of IL17A SNPs were compared between CAD patients and healthy controls.
- Linkage disequilibrium and haplotype analysis were performed for identified SNPs.
Main Results:
- Significant differences in allelic and genotypic frequencies were observed for IL17A polymorphisms rs8193037 and rs8193036 in CAD patients compared to controls.
- A lower frequency of the A allele for rs8193037 and the T allele for rs8193036 was found in CAD subjects, indicating a potential protective effect or altered risk.
- Analysis revealed significant linkage disequilibrium and a lower frequency of the T-G-G-A haplotype in CAD patients.
Conclusions:
- IL17A gene polymorphisms are associated with susceptibility to coronary artery disease.
- These findings support the involvement of Interleukin-17A dysfunction in the pathophysiological mechanisms underlying CAD.
- Specific IL17A variants may serve as genetic markers for CAD risk assessment.
Abstract:
Coronary artery disease (CAD) is a major global health problem. In China, the incidence of CAD and the rate of mortality arising from it have increased every year. Interleukin-17A (IL-17A) is a proinflammatory cytokine produced by activated T cells, and it may be involved in the development of CAD. Genetic polymorphisms in functional regions of the IL17A gene have a plausible role in modulating the risk of CAD. To evaluate the role of IL17A polymorphisms as a risk factor for CAD, we performed a detailed analysis of possible functional single nucleotide polymorphisms (SNPs) in regulatory regions of IL17A. This study examined the potential association between CAD and five SNPs (rs8193037, rs8193036, rs3819024, rs2275913, and rs3748067) of the IL17A gene. The allelic or genotypic frequencies of the rs8193037 (promoter region) and rs8193036 (promoter region) polymorphisms in CAD were significantly different from those in healthy controls. The CAD subjects had a significantly lower frequency of the A allele of rs8193037 (P = 0.009, OR = 1.772, 95%CI = 1.146- 2.742) and the T allele of rs8193036 (P = 0.010, OR = 1.754, 95%CI = 1.139-2.701). Strong linkage disequilibrium was observed in one block (D' > 0.9). Significantly fewer T-G-G-A haplotypes (P = 0.045) were found in CAD subjects in block 1. These data suggest that IL17A gene polymorphisms confer susceptibility to CAD, and support the notion that dysfunction of IL-17A is involved in the pathophysiological process of CAD.
Related Concept Videos
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
T Cell Types and Functions
Th1 cells stimulate dendritic cells to express necessary co-stimulatory molecules on their surfaces for...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
