Role of CYP19A1 Loci (rs28757157 and rs3751591) with Ischemic Stroke Risk in the Chinese Han Population

Kang Huang,1 Tianyi Ma,1 Qiang Li,1 Zanrui Zhong,1 Ting Qin,1 Yilei Zhou,2 Wei Zhang,1 Shilin Tang,1 Jianghua Zhong,1 Shijuan Lu1 1Department of Cardiology, Haikou People’s Hospital, Central South University Xiangya School of Medicine Affiliated Haikou Hospital, Haikou, Hainan, 570100, People’s Republic of China; 2Jingchu University of Technology, School of Medicine, Jingmen, Hubei, 448000, People’s Republic of ChinaCorrespondence: Shijuan Lu, Department of Cardiology, Haikou People’s Hospital, Central South University Xiangya School of Medicine Affiliated Haikou Hospital, No. 43, Renmin Avenue, Haidian Island, Haikou, 570100, Hainan, People’s Republic of China, Tel +86-13005013999, Email Lu_shijuan@163.com Jianghua Zhong, Jingchu University of Technology, School of Medicine, No. 33, Xiangshan Avenue, Jingmen, Hubei, 448000, People’s Republic of China, Tel +86-13322003882, Email zhong3882@163.comIntroduction: Ischemic stroke (IS) is a multifactorial and polygenic disease, which is affected by genetic factors. In this study, we explored the role of CYP19A1 single nucleotide polymorphisms (SNPs) in IS in the Chinese population.Methods: 1302 subjects (651 controls and 651 cases) were recruited in this case–control study. Four candidate SNPs (rs28757157 C/T, rs3751592 C/T, rs3751591 G/A, rs59429575 C/T) of CYP19A1 were selected by the 1000 genomes project database. The association between CYP19A1 SNPs and IS risk was assessed using logistic regression analysis with odds ratio (OR) and 95% confidence intervals (CIs). False-positive report probability (FPRP) analysis further verified the positive results. The interaction of SNP-SNP was analyzed by multi-factor dimensionality reduction (MDR) to predict is risk.Results: In the research, CYP19A1 loci (rs28757157 and rs3751591) were associated with the occurrence of IS. The two variants conferred an increased susceptibility to IS in the subjects aged over 60 years old, smokers and drinkers. Rs28757157 was related to the risk of IS in females, non-smokers and subjects with BMI less than 24, while rs59429575 was related to the risk of IS in males and subjects with BMI greater than 24.Conclusion: The study revealed that there is a significant association between CYP19A1 loci (rs28757157 and rs3751591) and IS risk in the Chinese Han population, providing a theoretical basis for further exploring its specific role in the pathogenesis of IS.Keywords: ischemic stroke, risk, CYP19A1, single nucleotide polymorphisms, case-control study, Chinese Han population