apo(a)PNR基因多态性在汉族人群中的表达与冠心病的关系(英文)

Expression of pentanucleotide repeat polymorphism of apolipoprotein(a) in Chinese Han and the association with coronary heart disease and serum lipid level

目的:通过检测冠心病患者和正常人群apo(a)PNR基因型及血脂水平的变化,研究载脂蛋白(a)犤apo(a)犦五核苷酸重复序列(PNR)基因多态性与冠心病(CHD)及其血脂水平的关系。方法:采用聚合酶链反应结合高压变性聚丙烯酰胺凝胶电泳,分析了153例健康志愿者及88例冠心病患者(武汉大学中南医院,武汉大学亚太医院1998～1999住院患者)的apo(a)PNR基因型,同时检测基因型与血清脂质。脂蛋白和载脂蛋白水平之间的关系。结果:CHD组apo(a)PNR(TTTTA)5/8基因型频率(0.181)和(TTTTA)5等位基因频率(0.107)分别显著高于对照组(0.039,χ2=13.779,P<0.01;0.026,χ2=6.39,P<0.05);(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基因多态性与Lp(a)水平密切相关,apo(a)PNR(TTTTA)5等位基因可能是中国汉族人群冠心病的危险因子之一。此结论可为冠心病的康复、预防提供理论依据。

AIM:To investigate the association of the pentanucleotide repeat(PNR) polymorphism of apolipoprotein(a) with the serum lipid level in coronary heart disease(CHD) patients, we detected apo(a) PNR genotypes and levels of serum lipids of CHD patients and healthy persons.METHODS:apo(a) PNR genotypes of 88 patients with CHD(inpatients from Zhongnan Hospital and Yatai Hospital of Wuhan University in 1998 to 1999) and 153 healthy persons were detected by polymerase chain reaction(PCR) and high voltage polyacrylamide denature gels electropherosis. The relation of the polymorphism of apo(a) PNR gene and levels of serum lipids, lipoproteins, and apolipoproteins was also studied.RESULTS:11 different genotype and 7 different allele in CHD and healthy control group were detected.The frequency of apo(a) PNR(TTTTA)5/8 genotype (0.181) and (TTTTA)5 allele (0.107) in CHD patients was significantly higher than that in control group(0.039, χ 2=13.779 , P< 0.01; 0.026, χ 2=6.39, P< 0.05). Besides that we found higher serum LP(α ) level in (TTTTA)5/8 genotype than that in (TTTTA)8/8 and (TTTTA)8/9 genotype. CO