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ORIGINAL RESEARCH

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

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Pages 491-502 | Received 09 Jan 2023, Accepted 11 Apr 2023, Published online: 29 May 2023
 

Abstract

Introduction

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.

Data Sharing Statement

The data used to support the findings of this study are available from the corresponding author upon request.

Human and Animal Ethics

This study was approved by the ethics committee of Haikou People’s Hospital. All participants signed informed consent forms before participating in this study.

Ethics Approval and Consent to Participate

This study was approved by the ethics committee of Haikou People’s Hospital and conformed to the ethical principles of the Declaration of Helsinki. All participants signed informed consent forms before participating in this study.

Acknowledgments

We thank all authors for their contributions and supports. We are also grateful to all subjects for providing blood samples. Kang Huang and Tianyi Ma are the co-first authors. Jianghua Zhong and Shijuan Lu are the co-corresponding authors.

Disclosure

The authors have no conflict of interest.

Additional information

Funding

The study was supported by the specific research fund of The Innovation Platform for Academicians of Hainan Province (YSPTZX202032).