维吾尔族人群中CYP17A1基因多态性与冠状动脉疾病的单倍型分析

Haplotype analyses of CYP17A1 genetic polymorphisms and coronary artery disease in a Uygur population.

作者信息

Dai Chuan-Fang, Xie Xiang, Ma Yi-Tong, Yang Yi-Ning, Li Xiao-Mei, Fu Zhen-Yan, Liu Fen, Chen Bang-Dang, Gai Min-Tao

机构信息

Department of Cardiology, First Affiliated Hospital of Xinjiang Medical University, Urumqi, 830054 P.R., China.

Department of Cardiology, First Affiliated Hospital of Xinjiang Medical University, Urumqi, 830054 P.R., China

出版信息

J Renin Angiotensin Aldosterone Syst. 2015 Jun;16(2):389-98. doi: 10.1177/1470320314565840. Epub 2015 Jan 14.

DOI:10.1177/1470320314565840

PMID:25592814

Abstract

BACKGROUND

The relationship between CYP17A1 genetic polymorphisms and coronary artery disease (CAD) remains unclear. The aim of the present study was to assess the association between CYP17A1 gene polymorphism and CAD in a Chinese Uygur population.

METHODS

A total of 493 people including 266 patients and 227 controls were selected for the present study. All CAD patients and controls were genotyped for the same five single nucleotide polymorphisms (SNPs) (rs4919686, rs1004467, rs4919687, rs10786712, and rs2486758) by a real-time PCR method.

RESULTS

The rs4919686, rs1004467, and rs4919687 polymorphisms were found to be associated with CAD in genotypes, dominant model, recessive model, and allele frequency (rs4919686: all p<0.05, rs1004467: all p ≤ 0.001, rs4919687: all p<0.001); the significant difference was retained (all p<0.05) after adjustment for the major confounding factors. The overall distribution of haplotypes established by SNP1-SNP4 (in total subjects and men) and SNP1-SNP4-SNP5 (in total subjects) were significantly different between the CAD patients and the control subjects (p=0.006, men: p=0.026, and p=0.030, respectively).

CONCLUSION

Polymorphisms rs4919686, rs4919687 and rs1004467 were found to be associated with CAD in this Uygur population.

摘要

背景

细胞色素P450 17α-羟化酶/17,20-裂解酶1（CYP17A1）基因多态性与冠状动脉疾病（CAD）之间的关系尚不清楚。本研究旨在评估中国维吾尔族人群中CYP17A1基因多态性与CAD的关联。

方法

本研究共选取493人，其中包括266例患者和227例对照。采用实时荧光定量聚合酶链反应（PCR）方法对所有CAD患者和对照的相同5个单核苷酸多态性（SNP）（rs4919686、rs1004467、rs4919687、rs10786712和rs2486758）进行基因分型。

结果

发现rs4919686、rs1004467和rs4919687多态性在基因型、显性模型、隐性模型和等位基因频率方面与CAD相关（rs4919686：所有p<0.05，rs1004467：所有p≤0.001，rs4919687：所有p<0.001）；在对主要混杂因素进行校正后，差异仍具有统计学意义（所有p<0.05）。由SNP1-SNP4（在所有受试者和男性中）以及SNP1-SNP4-SNP5（在所有受试者中）构建的单倍型总体分布在CAD患者和对照受试者之间存在显著差异（p=0.006，男性：p=0.026，以及p=0.030）。