ADAMTS4和ADAMTS5基因多态性与冠心病相关性研究

Association of the single nucleotide polymorphisms of ADAMTS4 and of ADAMTS5 with coronary heart disease in Chinese Han population

目的:探讨ADAMTS4和ADAMTS5基因单核苷酸多态性(single nucleotide polymorphisms,SPN)和冠心病(coronary artery disease,CAD)的相关性。方法:用聚合酶链反应-单链构象多态性(polymerase chain reaction-single-strand conformation polymorphism,PCR-SSCP)方法和聚合酶链反应-限制性片段长度多态性(polymerase chain reaction-restriction fragment length polymorphism,PCR-RFLP)方法检测307例CAD患者和315例对照的rs4233367、rs2830585和rs229072 SNP多态性位点基因型的分布情况。结果:SNPrs2830585在CAD组和对照组中基因型频率为CC(87.0%vs.78.4%)、CT(12.7%vs.20.6%)和TT(0.3%vs.1.0%),差异有统计学意义(χ~2=8.291,P=0.016),2组间T等位基因频率分别为6.7%和11.3%,差异有统计学意义(χ~2=8.004,P=0.005),经过logistic回归分析后,rs2830585的CT+TT基因型组间差异依然有统计学意义(OR=1.777,95%CI=1.071~2.949,P=0.026)。SNPrs4233367和SNPrs229072在CAD组和对照组中基因型和等位基因频率分布差异均无统计学意义(P>0.05)。结论:ADAMTS5基因rs2830585多态性位点与CAD发病相关,C等位基因可能是CAD发生的易感基因。

Objective：To investigate the association of single nucleotide polymorphisms（SNP）of ADAMTS4 and ADAMTS5 gene with coronary artery disease（CAD）. Methods：A case-control association study of 307 unrelated CAD patients and 315 normal controlfrom a Chinese Han Population was performed. Genotype and allele were determined bypolymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP）and polymerase chain reaction-single-strand conformation polymorphism（PCR-SSCP）for SNP rs4233367,rs2830585 and rs229072. Results ：The genotype frequencies of SNP rs2830585 in CAD group and the control group respectively were CC（87.0% vs. 78.4% ）,CT（12.7% vs. 20.6% ）and TT（0.3% vs. 1.0% ）,with statistically significance between the two groups（χ~2=8.291,P=0.016）. The genotype frequencies of T allele were 6.7% and 11.3% respectively,with statistically significance between the two groups（χ~2=8.004,P=0.005）. Logistic regression analysis revealed that ADAMTS5 gene rs2830585 had a strong associ ation with CAD（OR=1.777,95% CI=1.071 to 2.949,P=0.026）. Thefrequencies of the genotype and alleles ofrs4233367 and rs229072 had no statistical significance between two groups（P〉0.05）. Conclusion：SNP rs2830585 polymorphisms of the ADAMTS5 gene may be associated with CAD. The C allele of the SNP rs2830585 may be a genetic risk factor for CAD.