ATP结合盒转运子1基因多态性与脑梗死的关系

The study on the ATP-binding cassette transporter 1 gene polymorphism in patients with cerebral infarction

目的 探讨ATP结合盒转运子 1(ATP bindingcassettetransporter 1,ABCA1)基因R2 19K变异与我国脑梗死发病风险的关系。方法 采用病例对照研究 ,对 379例脑梗死患者和 35 1名健康对照组进行研究。采用聚合酶链反应 限制性片段长度多态性方法测定ABCA1基因多态性。结果 在脑梗死患者和对照组ABCA1R2 19K多态性的三种基因型中 ,RK型发生频率最高 ,RR型次之 ,KK型发生频率最低。脑梗死组KK型频率低于对照组 ,RR型频率高于对照组。脑梗死组和对照组的R2 19K变异携带者 (RK +KK型 )频率分别为 6 0 7%和 6 8 1% ,差异有显著意义 (P <0 0 5 )。KK基因型高密度脂蛋白 (HDL C)水平明显高于RR型 (P <0 0 1)。多因素Logistic回归分析脑梗死携带者 (RK +KK型 )的OR值为 0 6 73(95 %CI 0 4 76～ 0 95 3,P =0 0 2 6 )。结论 ABCA1R2 19K基因多态性产生有益的临床血脂谱 ,对脑梗死具有保护作用 ,可能是脑梗死的低危遗传标记。

Objective To explore the relationship between the ATP binding cassette transporter 1 (ABCA1) R219K gene polymorphism and cerebral infarction Methods A case control study on 379 patients with cerebral infarction and 351 healthy controls was carried out The genotype and allele frequencies of ABCA1 R219K gene polymorphism were assayed by polymerase chain reaction restricted fragments length polymorphism (PCR RFLP) Results The most frequency genotype of ABCA1R219K gene polymorphism was RK genotype, the next was RR genotype and the lowest was KK genotype in Hunan Province, China The cerebral infarction group showed a lower KK genotype frequency and a higher RR genotype frequency as compared with the healthy control group The R219K variant carrier (RK+KK)frequencies of the patients with cerebral infarction and the healthy controls were 60 7%, 68 1%, respectively ( P <0 05) The serum HDL C level of the KK genotype showed significantly higher than the RR genotype ( P <0 01) In multiple logistic regression analysis, the RK+KK genotype odds ratio for cerebral infarction was 0 673(95% CI 0 476 0 953, P =0 026) Conclusion ABCA1 R219K gene polymorphism results in a beneficial profile of blood lipids The RK+KK genotype should have an independent protective effect, which might be a novel genetic marker for cerebral infarction