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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 between single nucleotide polymorphisms (ADNs) and ADAMTS5 gene polymorphisms (SPNs) and coronary artery disease (CAD). Methods: Polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) and polymerase chain reaction-restriction fragment length polymorphism length polymorphism and PCR-RFLP were used to detect the genotype distribution of rs4233367, rs2830585 and rs229072 SNP loci in 307 patients with CAD and 315 controls. Results: The genotype frequency of SNP rs2830585 in CAD group and control group was CC (87.0% vs.78.4%), CT (12.7% vs.20.6%) and TT (0.3% vs.1.0%), the difference was statistically significant ( The frequency of T allele in the two groups was 6.7% and 11.3%, respectively (χ ~ 2 = 8.291, P = 0.016). The difference was statistically significant (χ ~ 2 = 8.004, P = 0.005). After logistic regression analysis, rs2830585 CT + TT genotype differences between groups were still statistically significant (OR = 1.777, 95% CI = 1.071 ~ 2.949, P = 0.026). SNPrs4233367 and SNPrs229072 in the CAD group and control group genotype and allele frequency distribution differences were not statistically significant (P> 0.05). Conclusion: The rs2830585 polymorphism of ADAMTS5 gene is associated with the development of CAD. The C allele may be a susceptibility gene to CAD.