Genetic variants in CYP11B1 influence the susceptibility to coronary heart disease

BACKGROUND: Genetic factors are important risk factors to develop coronary heart disease (CHD). In this study, we mainly explored whether CYP11B1 mutations influence CHD risk among Chinese Han population. METHODS: Six variants were genotyped using Agena MassARRAY system from 509 CHD patients and 509 healthy controls. The correlations between CYP11B1 mutations and CHD risk were assessed using odds ratio (OR) and 95% confidence interval (95% CI) by logistic regression. The haplotype analysis and were ultifactor dimensionality reduction (MDR) were conducted. RESULTS: In the overall analysis, CYP11B1 polymorphisms were not correlated with CHD susceptibility. In the stratified analysis, we found that rs5283, rs6410, and rs4534 are significantly associated with susceptibility to CHD dependent on age and gender (p < 0.05). Moreover, we also observed that rs5283 and rs4534 could affect diabetes/hypertension risk among CHD patients (p < 0.05). In addition, the C(rs4736312)A(rs5017238)C(rs5301)G(rs5283)T(rs6410)C(rs4534) haplotype of CYP11B1 reduce the susceptibility to CHD (p < 0.05). CONCLUSIONS: We found that rs4534, rs6410 and rs5283 in CYP11B1 gene influence the susceptibility to CHD, which depend on age and gender. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12920-022-01307-8.