载脂蛋白(a)基因遗传多态性与缺血性脑卒中的关系

目的 研究并探讨贵州汉族人群载脂蛋白(a)Apo(a)]五核苷酸重复序列(PNR)基因多态性与缺血性脑卒中的关系.方法 2005年3月至2006年6月我院收治的缺血性脑卒中患者64例,男41例,女23例,平均年龄62岁.健康对照组86例,男54例,女32例,平均年龄58岁.分别检测血清脂蛋白ALp(a)]、总胆固醇(TC)、高密度脂蛋白胆固醇(HDL2C)、低密度脂蛋白胆固醇(LDL2C)、甘油三酯(TG)、载脂蛋A I(ApoA I)及载脂蛋白B(ApoB)水平.同时采用聚合酶链反应结合高压聚丙烯酰胺凝胶电泳检测Apo(a)5'调控区PNR基因的多态性,并加以对照分析.结果 缺血性脑卒中患者Lp(a)(240±225)mg/L]、TC(4.7±0.7)mmol/L]、TG(1.7±0.6)mmol/L]和LDL2C(2.8±0.6)mmol/L]水平明显高于对照组(134±98)mg/L、(4.3±0.7)mmol/L、(1.1±0.5)mmol/L和(2.8±0.6)mmol/L],HDL2C水平(0.9±0.2)mmol/L]明显低于对照组(1.0±0.4)mmol/L];两组ApoA I(1.1±0.2)mmol/L,(1.2±0.2)mmol/L]、ApoB(0.9±0.1)mmol/L,(0.9±0.2)mmol/L]比较,差异无显著统计学意义;缺血性脑卒中组中重复序列数为5的等位基因频率(0.096)明显高于正常对照组(0.024)(P＜0.05),重复序列数为9的等位基因频率(0.069)明显低于对照组(0.223)(P＜0.01),两组人群间Apo(a)PNR基因型与等位基因频率比较,差异有显著统计学意义.且重复序列数为5的等位基因还与血浆TC下降和Lp(a)升高有关(P＜0.01).结论 Apo(a)PNR基因多态性与人群易患缺血性脑卒中有关,可能在一定程度上参与了缺血性脑卒中的发生和发展过程;Apo(a)PNR基因多态性具有种族和地区的差异.

Relationship between pentanucleotide repeat polymorphism of apolipoprotein(a)gene and cerebral arterial thrombosis in Han population

Objective To study the relationship between a pentanuclotide repeats(PNR)polymorphism of the apolipoprotein(a)gene and cerebral arterial thrombosis in Han population of Guizhou.Method The examined objects were composed of two groups:64 patients with cerebral infarction and 86 healthy controls.The Lp(a),TC,TG,HDL2C,LDL2C,ApoA I and ApoB of the two groups were tested.The PNR in 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 LDL2C levels were significantly higher in cerebral arterial thrombosis(ABI)than in controls(P＜0.01),and the HDL2C level significantly lower in ABI than in controls,while ApoA I and ApoB levels were signifcantly different.The allele frequency of ABI with 5 repeats was remarkably higher than that in control(P＜0.05),the frequency in ABI with 9 repeats was remarkably lower than that in control(P＜0.01);and the allele frequency with 5 repeats was associated with low TC and hiigh Lp(a)levels.Conclusions The study suggested that the PNR polymorphism of Apo(a)is associated with the susceptibility to cerebral arterial thrombosis,which may be involved in the development of atherosclerosis and cerebral infarction.