中国南方汉族人群 CYP20A1、CYP4F2、CYP2D6 基因多态性与冠心病风险的关联研究。

The association study between CYP20A1, CYP4F2, CYP2D6 gene polymorphisms and coronary heart disease risk in the Han population in southern China.

机构信息

Department of Cardiovascular, People's Hospital of Wanning, The First Affiliated Hospital of Chongqing Medical University, Wanning, 571500, Hainan, China.

Department of General Practice, Haikou Affiliated Hospital of Central South University Xiangya School of Medicine, Haikou, 570208, Hainan, China.

出版信息

Genes Genomics. 2022 Sep;44(9):1125-1135. doi: 10.1007/s13258-021-01125-9. Epub 2021 Jul 24.

DOI:10.1007/s13258-021-01125-9

PMID:34302632

Abstract

BACKGROUND

Coronary heart disease (CHD) is a disease that seriously harms human health. Genetic factors seriously affect the CHD susceptibility. The CYP20A1, CYP4F2 and CYP2D6 are important drug metabolism enzymes in the human body.

OBJECTIVE

We aimed to explore the association between CYP20A1, CYP4F2, CYP2D6 single nucleotide polymorphisms (SNPs) and CHD risk in the Chinese Southern Han population.

METHODS

Based on the 'case-control' experimental design (505 cases and 508 controls), we conducted an association study between 5 candidate SNPs selected from CYP20A1 (rs2043449), CYP4F2 (rs2108622, rs3093106, rs309310), CYP2D6 (rs1065852) and CHD risk. Logistic regression was used to analyze the CHD susceptibility under different genetic models. Multi-factor dimensionality reduction (MDR) was used to analyze the interaction of 'SNP-SNP' in CHD risk.

RESULTS

Our results showed that under multiple genetic models, CYP2D6 rs1065852 significantly increased the CHD risk in these participants who are ≤ 60 years old (OR 1.40, CI 1.07-1.82, p = 0.013), smokers (OR 1.40, CI 1.02-1.93, p = 0.039), or have family history (OR 1.24, CI 1.02-1.51, p = 0.035). CYP4F2 SNPs rs2108622 (OR 0.63, CI 0.43-0.93, p = 0.020), rs3093106 (OR 0.52, CI 0.29-0.92, p = 0.023), and rs309310 (OR 0.55, CI 0.31-0.96, p = 0.033) were potentially associated with the course of CHD patients.

CONCLUSION

Our study found that CY2D6 rs1065852 has an outstanding and significant association with increased CHD risk. Our study provided data supplements for CHD genetic susceptibility loci, and also provided a new and valuable reference for CHD drug treatment.

摘要

背景

冠心病（CHD）是一种严重危害人类健康的疾病。遗传因素严重影响 CHD 的易感性。CYP20A1、CYP4F2 和 CYP2D6 是人体内重要的药物代谢酶。

目的

旨在探讨中国南方汉族人群 CYP20A1、CYP4F2 和 CYP2D6 单核苷酸多态性（SNPs）与 CHD 风险的相关性。

方法

基于“病例对照”实验设计（505 例病例和 508 例对照），我们对从 CYP20A1（rs2043449）中选择的 5 个候选 SNP 与 CHD 风险之间的关联进行了关联研究。采用 logistic 回归分析不同遗传模型下 CHD 的易感性。多因素降维（MDR）分析 CHD 风险中“SNP-SNP”的相互作用。

结果

我们的结果表明，在多种遗传模型下，CYP2D6 rs1065852 显著增加了这些≤60 岁（OR 1.40，CI 1.07-1.82，p=0.013）、吸烟者（OR 1.40，CI 1.02-1.93，p=0.039）或有家族史（OR 1.24，CI 1.02-1.51，p=0.035）的参与者的 CHD 风险。CYP4F2 基因 SNP rs2108622（OR 0.63，CI 0.43-0.93，p=0.020）、rs3093106（OR 0.52，CI 0.29-0.92，p=0.023）和 rs309310（OR 0.55，CI 0.31-0.96，p=0.033）与 CHD 患者的病程可能相关。