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Updated: Nov 15, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Role of IL-9, IL-2RA, and IL-2RB genetic polymorphisms in coronary heart disease
Xianghong Chen1, Xingfan Wang2, Zaozhang Zhang1
1Department of General Medicine, The Second Affiliated Hospital of Hainan Medical University, 570311, Haikou, China.
Insights
Genetic variants in interleukin-9 (IL-9), IL-2RA, and IL-2RB are associated with coronary heart disease (CHD) risk in a Han Chinese population. Specific single-nucleotide polymorphisms (SNPs) like IL-9 rs55692658 show a significant link to increased CHD susceptibility.
Area of Science:
- Genetics
- Cardiovascular Disease
- Immunology
Background:
- Coronary heart disease (CHD) is a major global health concern.
- Inflammatory cytokines are implicated in the development of CHD.
- Genetic predisposition may influence CHD risk.
Purpose of the Study:
- To investigate the association between specific genetic variants of interleukin (IL)-9, IL-2RA, and IL-2RB and CHD risk.
- To analyze the potential role of these polymorphisms in a Han Chinese population.
Main Methods:
- A case-control study involving 499 CHD patients and 496 healthy controls.
- Genotyping of seven single-nucleotide polymorphisms (SNPs).
- Analysis of SNP interactions with CHD risk using multifactor dimensionality reduction (MDR).
Main Results:
- The IL-9 rs55692658 polymorphism was associated with an increased risk of CHD (OR=1.72).
- IL-9 rs55692658 and IL-2RB rs1573673 were significant risk factors across age groups.
- Specific variants (IL-9 rs55692658, IL-2RA rs12722498) showed sex-specific associations in female patients.
- IL-2RA rs12569923 was linked to diabetes risk in CHD patients.
- MDR analysis indicated a positive interaction among the studied SNPs.
Conclusions:
- Certain polymorphisms in IL-9, IL-2RA, and IL-2RB may be associated with CHD.
- The findings highlight potential genetic markers for CHD susceptibility.
- Further validation in larger cohorts is recommended.
Background:
Coronary heart disease (CHD) is one of the leading causes of disability and death worldwide. Inflammatory cytokines play an essential role in the pathogenesis of CHD. This study aimed to detect the potential association between interleukin (IL)-9, IL-2RA, and IL-2RB variants and CHD in a Han Chinese population.
Methods:
This case-control study included 499 CHD patients and 496 healthy controls. Seven single-nucleotide polymorphisms (SNPs) were genotyped to investigate the possible association between the polymorphisms and CHD risk. Interactions between SNPs and CHD risk were analyzed via multifactor dimensionality reduction (MDR).
Results:
We observed an association between IL‑9 rs55692658 (OR = 1.72, p = 0.003) and increased CHD risk. Age-stratified analysis indicated that regardless of the participants' age, IL‑9 rs55692658 and IL-2RB rs1573673 contributed significantly to CHD susceptibility (p < 0.05, respectively). Results showed an association between IL‑9 rs55692658 and an increased risk for CHD (OR = 2.32, p = 0.003), while IL-2RA rs12722498 was correlated with decreased susceptibility to CHD (OR = 0.54, p = 0.033) in female patients. Furthermore, IL-2RA rs12569923 was related to diabetes risk in CHD patients (OR = 1.50, p = 0.028). The MDR analysis revealed a positive interaction between the SNPs.
Conclusion:
The present study demonstrated that IL‑9 rs55692658, IL-2RA rs12569923, IL-2RA rs12722498, and IL-2RB rs3218264 polymorphisms might be related to CHD. The results require validation in larger studies.
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