载脂蛋白(a)5’调控区(TTTTA)n基因多态性与冠心病及其血清脂质的关系

(TTTTA)n polymorphism analysis in the 5' control region of apollipoprotein(a) gene in patients with coronary heart disease and the association with serum lipid level

目的 :研究载脂蛋白 (a) [apo(a) ]五核苷酸重复序列 (PNR)基因多态性在湖北地区汉族人群冠心病(CHD)患者中的分布特点 ,进一步探讨其与血脂水平的关系。方法 :采用聚合酶链反应结合聚丙烯酰胺凝胶电泳 ,分析了 1 53例健康人及 88例冠心病患者的apo(a)PNR基因型 ,并测定其血清胆固醇 (TC)、甘油三酯 (TG)、高密度脂蛋白胆固醇 (HDL -C)、低密度脂蛋白胆固醇 (LDL -C)、ApoAⅠ、ApoB及脂蛋白 (a) [Lp(a) ]的浓度进行分析。结果 :CHD患者LP(a)、TC、TG、LDL -C水平明显高于对照组 ,HDL -C水平明显低于对照组 (P <0 0 1 ) ;ApoAⅠ、ApoB两组间无显著差异 ;CHD组apo(a)PNR(TTTTA) 5/ 8基因型频率 (0 1 81 )和 (TTTTA) 5等位基因频率 (0 1 0 7)分别显著高于对照组 (P <0 0 5) ;(TTTTA) 5/ 8基因型者血清LP(a)水平高于 (TTTTA) 8/ 8、(TTTTA) 8/ 9基因型者。结论 :apo(a)PNR(TTTTA)

AIM: To investigate the pentanucleotide repeat(PNR) polymorphism of apolipoprotein(a) in patients with coronary heart disease(CHD) in Hubei area, and evaluate the association of polymorphism of apo(a) PNR with the level of serum lipid. METHODS: Objects examined were composed of two groups: 88 patients with CHD and 153 healthy controls. Lp(a), TC,TG, HDL-C, LDL-C, ApoAⅠand ApoB of two groups were tested. Meanwhile,the PNR in the 5' control region of the Apo(a) was detected by using polymerase chain reaction (PCR) and high voltage polyacrylamid gels electropherosis. RESULTS: The serum Lp(a), TC, TG and LDL-C levels were remarkably higher in the CHD than that in control( P <0.01), HDL-C level was remarkably lower in the CHD than that in control, ApoAⅠand ApoB levels weren't significant difference; The frequency of apo(a) PNR(TTTTA) 5/8 genotype in patients with CHD was significantly higher than that in control group ( P< 0.01).The frequency of apo(a) PNR(TTTTA) 5 allele was significantly higher in patients than that in control group( P< 0.05).The PNR polymorphism of apo(a) obviously influenced the serum LP(a) levels. The concentrations of LP(a) in (TTTTA) 5/8 group was higher than that in (TTTTA) 8/8 and (TTTTA) 8/9 group( P< 0.05). CONCLUSION: apo(a) PNR polymorphism was closely related to serum LP(a), and apo(a) PNR (TTTTA) 5 allele may be a risk factor of coronary heart disease in Han Chinese.