Haplotype analyses of CYP17A1 genetic polymorphisms and coronary artery disease in a Uygur population
Haplotype analyses of CYP17A1 genetic polymorphisms and coronary artery disease in a Uygur population
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维吾尔族人群CYP17A1基因多态性与冠心病的单倍型分析
DOI：
10.1177/1470320314565840
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发表时间：
2015-06-01
影响因子：
2.9
通讯作者：
Gai, Min-Tao
中科院分区：
文献类型：
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作者：
Dai, Chuan-Fang;Xie, Xiang;Gai, Min-Tao
背景：CYP 17 A1基因多态性与冠状动脉疾病（CAD）的关系尚不清楚。本研究的目的是评估CYP 17 A1基因多态性与中国维吾尔族人群冠心病的关联。方法：选择493例健康体检者，包括266例患者和227例对照者。通过实时PCR方法对所有CAD患者和对照组进行相同的5个单核苷酸多态性（SNP）（rs 4919686、rs 1004467、rs 4919687、rs 10786712和rs 2486758）基因分型。结果如下：rs 4919686、rs 1004467和rs 4919687多态性在基因型、显性模式、隐性模式和等位基因频率上与CAD相关（rs 4919686：所有p<0.05，rs 1004467：所有p≤0.001，rs 4919687：所有p<0.001）;校正主要混杂因素后，仍保持显著差异（所有p<0.05）。通过SNP 1-SNP 4（在全部受试者和男性中）和SNP 1-SNP 4-SNP 5（在全部受试者中）建立的单倍型的总体分布在CAD患者和对照受试者之间显著不同（分别为p=0.006，男性：p=0.026和p=0.030）。结论：rs 4919686、rs 4919687和rs 1004467基因多态性与新疆维吾尔族人群冠心病相关。
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.