论文部分内容阅读
目的:探讨三磷酸腺苷结合盒转运子A1(ATP binding cassette transporter 1,ABCA1)基因1587单核苷酸多态性(single nucleotide polymorphism,SNP)位点与冠心病(coronary heart disease,CHD)及血脂水平的关系。方法:采用病例对照研究,聚合酶链反应-限制性片段长度多态性(Polymerase Chain Reaction-Restriction Fragment Length Polymorphism)方法,对260例经冠状动脉造影确诊的冠心病患者和同一地区造影排除冠心病正常对照248例,进行ABCA1基因1587位点SNP分析检测,比较不同基因型与血脂水平和冠心病的关系。结果:ABCA1基因1587位点多态性有三种:RR、RK和KK型。全部检测人群中RR型占76.97%,RK型占18.11%,KK型占4.92%。冠心病组与对照组中RR、RK、KK三种基因型频率差异无统计学意义(P>0.05);冠心病患者与正常人等位基因频率差异无显著性(P>0.05);K等位基因携带者HDL-C水平低于非携带者(P<0.01)。结论:ABCA1基因1587位点多态性冠心病患病无相关性;K等位基因携带者血浆HDL-C水平低下。
Objective: To investigate the relationship between 1587 single nucleotide polymorphism (SNP) of ATP binding cassette transporter A1 (ABCA1) gene and coronary heart disease (CHD) and serum lipids relationship. Methods: A case-control study and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) were performed in 260 patients with CHD confirmed by coronary angiography and those with coronary angiography 248 cases of normal control, ABCA1 gene 1587 SNP detection test to compare the different genotypes and lipid levels and coronary heart disease. Results: There were three polymorphisms in ABCA1 gene at position 1587: RR, RK and KK. The RR type accounted for 76.97%, RK type accounted for 18.11%, KK accounted for 4.92%. The frequencies of RR, RK and KK in CHD group and control group were not significantly different (P> 0.05). There was no significant difference in allele frequencies between CHD patients and normal subjects (P> 0.05); K The level of HDL-C in carriers of gene was lower than that of non-carriers (P <0.01). CONCLUSION: There is no correlation between ABCA1 gene polymorphism at the 1587 locus and coronary heart disease in patients with K allele. The level of plasma HDL-C in K allele is low.