ABCA1基因多态性与腔隙性脑梗死的关系

The ATP-binding cassette transporter 1 gene polymorphism in patients with lacunar infarction

目的探讨三磷酸腺苷(ATP)结合盒子转运子1(ATP-binding cassette transporter1,ABCA1)基因多态性与腔隙性脑梗死(lacunar infarction)的相关性。方法采用病例-对照方法对109例腔隙性脑梗死患者和339例健康对照者进行研究,并用多聚合酶链式反应(PCR)和限制性片段长度多态性测定ABCA1R219K多态性。结果对照组ABCA1R219K基因型的频率为RR32.4%、RK49.6%和KK18.0%;腔隙性脑梗死组基因型的频率为RR27.5%、RK55.1%和KK17.4%。ABCA1R219K基因型和等位基因频率分布在腔隙性脑梗死组与对照组之间差异无显著性(P>0.05)。结论未发现ABCA1R219K基因多态性与腔隙性脑梗死存在相关关系。

Objective To explore the relationship between the ATP-binding cassette transporter 1 （AB- CA1） R219K gene polymorphism and lacunar infarction. Methods A case-control study in 109 patients with lacunar infarction and 339 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 ABCA1 P,219K genotype frequencies of healthy controls was RR 32. 4%, RK 49. 6% and KK 18. 0%; the ABCA1 R219K genotype distribution in the subjects with lacunar infarction was RR 27. 5% ,RK 55. 1% and KK 17.4%. No statistically significant difference in ABCA1 R219K allele and genotype distribution was found between the patients with lacunar infarction and the healthy controls （P〉0. 05）. Conclusions These results suggest that the ABCA1 R219K gene polymorphism is not associated with lacunar infarction.