ADAMTS1基因多态性与冠心病的相关性研究

Association of ADAMTS1 gene single nucleotide polymorphisms with coronary heart disease in Chinese Han population

目的：探讨ADAMTS1基因SNPrs428785和SNPrs2738两个位点与冠心病（coronary heart disease,CHD）的相关性。方法：采用聚合酶链反应结合单链构象多态性和聚合酶链反应结合限制性片段长度多态性,再结合DNA测序技术对315例CHD患者和355例对照人群进行SNPrs428785和SNPrs2738检测,2组间计数资料比较采用卡方检验,计量资料比较采用独立样本t检验和Mann-Whitney U检验分析。结果：SNPrs428785在CHD组和对照组中基因型频率为CC（50.2%vs 38.9%）、CG（40.3%vs.47.9%）和GG（9.5%vs.13.2%）,差异有统计学意义（χ^2=8.974,P=0.011）,2组间G等位基因频率分别为29.7%和37.2%,差异有统计学意义（χ^2=8.410,P=0.004）,经二元logistic回归分析后,提示rs428785的基因型与冠心病的发生相关（OR=1.528,95%CI=1.086~2.150,P=0.015）。SNPrs2738在CHD组和对照组中的基因型频率为AA（74.3%vs.78.9%）、AC（24.1%vs.18.9%）和CC（1.6%vs.2.3%）,差异无统计学意义（χ^2=2.998,P=0.223）,A等位基因频率分别为86.3%和88.3%,差异无统计学意义（χ^2=1.164,P=0.281）。结论：ADAMTS1基因SNPrs428785多态性与冠心病发生相关,且G等位基因可能是冠心病的遗传易感基因,而SNPrs2738多态性与冠心病发生无相关性。

Objective：To investigate the association of ADAMTS1 gene single nucleotide polymorphisms with atherosclerotic coronary heart disease（CHD）. Methods ：This study includes 315 CHD and 355 control who admitted to the First Affiliated Hospital of Chongqing Medical University. SNP rs428785 and SNP rs2738 were detected by polymerase chain reaction-single-strand conformation polymorphism（PCR-SSCP）and polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP）,then verified by gene sequencing techniques. Chi-square test was used to analyze the count data,Mann-Whitney U test and independent-samples T test were used to analyze the measurement data between the two groups. Results：The genotype frequencies of SNP rs428785 in CHD group and the control group respectively were CC（50.2% vs. 38.9%）,CG（40.3% vs. 47.9%）and GG（9.5% vs. 13.2%）;there was a great statistically significance between the two groups（χ^2=8.974,P=0.011）as well as the frequency of G allele（29.7% vs.37.2%;χ^2=8.410,P=0.004）. After logistic regression analysis,CG＋GG genotype of SNPrs428785 may be associated with CHD（0R=1.528,95%CI=1.086 to 2.150,P=0.015）. SNP rs2738 in CHD group and the control group were AA（74.3% vs. 78.9%）,AC（24.1%vs. 18.9%）and CC（1.6% vs. 2.3%）respectively,but there was no statistically significance between the two groups（χ^2=2.998,P=0.223）,and there was also no significance in frequency of A allele（86.3% vs. 88.3%;χ^2=1.164,P=0.281）. Conclusion：SNP rs428785 but not SNP rs2738 polymorphisms of the ADAMTS1 gene may be associated with CHD. The G allele of the SNP rs428785 may be a genetic risk factor for CHD.