载脂蛋白A基因启动子区G→A置换及内含子ⅠC→T置换与冠心病的关联

Apolipoprotein AⅠ Gene G→A Substitution at Position-78 in Promotor and C→T Substitution at Position +83 in Intron 1 in Relation to Coronary Heart Disease in Chinese Population

目的 探讨冠心病患者载脂蛋白 (apo) A 基因 Msp 酶切位点变异频率及其对血脂水平的影响。方法 应用多聚酶链反应对成都地区汉族 178例正常人和 118例冠心病患者 apo A 基因启动子 (- 78bp)及内含子 (+83bp) ,Msp 限制性片段多态性进行分析。结果 冠心病组及对照组 apo A 基因 Msp 的多态性以G/ G基因型占优势。apo A 基因启动子区 Msp 酶切位点 A等位基因频率冠心病组与对照组比较有升高趋势 ,但无显著性差异 (0 .331vs. 0 .2 70 ,P=0 .0 6 7) ,+83bp T等位基因频率冠心病组较对照组显著升高 (0 .0 72 vs.0 .0 34 ,P<0 .0 5 )。在所研究对象中具有 A/ A基因型者血清 TG水平较具有 G/ G基因型者显著升高 (P<0 .0 5 )。结论 apo A 基因内含子 (+83bp) Msp 酶切位点的突变与中国人冠心病有一定关联 ,apo A 基因 A / A基因型对血清甘油三酯的升高有一定影响。

Objective To investigate the frequency of variant at MspⅠ sites of apoAⅠ gene and its relation to coronary heart disease (CHD) in Chinese population. Methods The restriction fragment length polymorphisms (RFLPS) at two MspⅠ sites in the 5'end at -78bp and +83bp of apolipoprotein AⅠ gene were detected using PCR in 118 coronary heart diasese patients and 178 healthy subjects from a population of Chinese Hans in Chengdu area. The loci included MspⅠ 1 (promoter region, -78bp) and MspⅠ 2 (intron 1,+83bp) sites. Results Both in CHD group and control group, G/G genotype was the most frequent one, the frequencies of rare A alleles at -78bp of apoAⅠ gene in Chengdu were significantly higher than those in American and European Caucasians (0.301 vs. 0 120~0.191, P<0.01), and the frequency of rare A allele in CHD group tended to be higher than that in the control group (0.331 vs. 0.270, P=0.067). The frequency of rare T allele for +83bp in CHD group was significantly higher than that in contorl group (0.072 vs. 0.034, P<0.05). In the study group, subjects with the genotype A/A had a significantly higher serum mean concentration of TG, compared with the subjects with the genotype G/G (P<0.05). Conclusions These results suggest that the MspⅠ RFLP at+83bp of apoAI gene is associated with coronary heart disease to some extent in Chinese population and the A/A genotype of apo AⅠ gene is associated with the increase of serum triglycerides level.