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A Genetic Risk Prediction Model for Coronary Artery Disease Integrating CYP17A1 Polymorphisms and Clinical Variables
Yu-Juan Feng1, Zhi-Hui Jiang1, Ying Pan1
1Department of Cardiology, First Affiliated Hospital of Xinjiang Medical University, Urumqi, People's Republic of China.
International Journal of General Medicine
|March 9, 2026
Summary
Specific CYP17A1 gene variants show a protective association with coronary artery disease (CAD) risk in the Chinese population. These findings contribute to understanding genetic factors influencing CAD susceptibility.
Area of Science:
- Genetics and Genomics
- Cardiovascular Disease Research
- Population Health Studies
Background:
- Coronary artery disease (CAD) is a leading cause of mortality globally.
- Genetic factors play a significant role in CAD susceptibility.
- The CYP17A1 gene is involved in steroid hormone synthesis and has been implicated in various diseases.
Purpose of the Study:
- To investigate the association between CYP17A1 gene polymorphisms and the risk of developing coronary artery disease (CAD).
- To identify specific single-nucleotide polymorphisms (SNPs) within the CYP17A1 gene that may influence CAD risk in a Chinese population.
- To develop a predictive model for CAD risk incorporating genetic and clinical factors.
Main Methods:
- A case-control study involving 2221 subjects (1363 CAD patients, 858 controls) from a Chinese population.
- Genotyping of five CYP17A1 SNPs (rs11191548, rs17115100, rs4409766, rs6162, rs6163).
- Statistical analyses including false discovery rate (FDR) correction, multivariate logistic regression, and nomogram development for risk prediction.
Main Results:
- Three SNPs (rs11191548, rs17115100, rs4409766) showed significant associations with CAD risk under recessive models after FDR correction (q=0.035).
- Independent protective effects were observed for CC genotype of rs11191548 (OR=0.507), CC genotype of rs4409766 (OR=0.557), and TT genotype of rs17115100 (OR=0.632).
- An integrated nomogram demonstrated good predictive performance for CAD risk (AUC=0.727-0.728). Exploratory analyses suggested potential sex-specific associations.
Conclusions:
- Specific variants in the CYP17A1 gene (rs11191548, rs17115100, rs4409766) are associated with altered coronary artery disease risk in the Chinese population.
- These genetic variations may confer a protective effect against CAD.
- The findings highlight the role of CYP17A1 in CAD pathogenesis and offer potential targets for risk prediction and stratification.
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