ATP结合盒转运子1R219K基因多态性与脑梗死OCSP分型的关系

Relationship between R219K polymorphism of ATP-binding cassette transporter A1 and sub-type of OCSP in cerebral infarction

目的探讨ABCA1 R219K基因多态性与脑梗死不同OCSP(Oxfordshire Community Stroke Project)分型的相关性及R219K基因多态性的相关性。方法收集中国湖南地区汉族脑梗死患者279例和健康对照者351例,进行病例对照研究。用多聚酶链式反应和限制性片段长度多态性分析R219K基因多态性。结果脑梗死组TG高于对照组,HDL-C低于对照组。KK型个体的TG、TC、HDL-C和ApoA-1等血脂水平均高于RK型和RR型,差异显著(P<0.05)。梗死组与对照组、脑梗死各OCSP分型组间的R219K基因型频率分布差异无显著性(P>0.05)。结论 ABCA1 R219K的KK纯合子与产生有益血脂谱有关,HLD-C可能是脑梗死的保护性因素。ABCA1 R219K基因多态性与脑梗死、脑梗死不同OCSP分型均无显著相关性。

Objective To explore the relationship between R219K polymorphism of ATP-binding cassette transporter A1 R219K and different sub-type of OCSP in cerebral infarction. Methods A case-control study on 351 patients with cer- ebral infarction and 279 healthy controls was carried out. The genotype and allele frequencies of ABCA1 R219K gene poly- morphism were assayed by polymerase chain reaction-restricted fragments length polymorphism （PCR-RFLP）. Results TG level of the different sub-type of OCSP in cerebral infarction is higher than that of the control group, and HDL-C level is significantly lower. The level of TG,TC ,HDL-C ~I ApoA-1 of the KK Genotype group are significantly higher than those of the RK and RR genotype group. There were no statistically significance for ABCA1 R219K genotype frequencies between cerebral infarction and the healthy controls （ P 〉 0.05 ）. There were no statistically significance for ABCA1 R219K genotype frequencies between the different cerebral infarction of OCSP（ P 〉 0.05 ）. Conclusion ABCA1 219K homozygotes may be beneficial to lipid profile, HLD-C may be a protective factor of cerebral infarction. There is no statistically significance for ABCA1 R219K genotype frequencies between the patients with cerebral infarction and the healthy controls, and so the pa- tients with cerebral infarction in OCSP and the healthy controls.