论文部分内容阅读
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 between ADAMTS1 gene SNP rs428785 and SNP rs2738 and coronary heart disease (CHD). Methods: SNPs rs28285 and SNP rs2738 were detected in 315 CHD patients and 355 control subjects by polymerase chain reaction combined with single-strand conformation polymorphism and polymerase chain reaction combined with restriction fragment length polymorphism (PCR-RFLP) Comparison of the count data between groups using chi-square test, measurement data were compared using independent samples t-test and Mann-Whitney U test analysis. Results: The frequencies of genotypes SNP rs428785 in CHD group and control group were CC (50.2% vs 38.9%), CG (40.3% vs.47.9%) and GG (9.5% vs.13.2%), the difference was statistically significant (χ 2 = 8.974, P = 0.011). The allele frequencies of G allele in the two groups were 29.7% and 37.2% respectively, with significant difference (χ ~ 2 = 8.410, P = 0.004). After binary logistic regression analysis , Suggesting that the genotype of rs428785 was associated with the occurrence of coronary heart disease (OR = 1.528, 95% CI = 1.086-2.150, P = 0.015). The SNP rs2738 genotype frequencies in CHD group and control group were AA (74.3% vs.78.9%), AC (24.1% vs.18.9%) and CC (1.6% vs.2.3%), with no significant difference (χ ~ 2 = 2.998, P = 0.223). The frequency of allele A was 86.3% and 88.3% respectively, with no significant difference (χ ~ 2 = 1.164, P = 0.281). Conclusion: SNP rs428785 polymorphism of ADAMTS1 gene is associated with coronary heart disease, and G allele may be genetic susceptibility gene of coronary heart disease. However, there is no correlation between SNP rs2738 polymorphism and coronary heart disease.