ABCA1基因R219K多态性与青年缺血性脑卒中的相关性研究  

Correlation between R219K polymorphism in the ATP-binding cassette transporter A1 gene and ischemic stroke in young adults

作　　者：刘竞丽[1] 李劲频[1] 汪晓玲[1] 

机构地区：[1]广西医科大学第一附属医院神经内科,南宁530021

出　　处：《中华神经医学杂志》2009年第12期1221-1225,共5页Chinese Journal of Neuromedicine

基　　金：广西自然科学基金（桂科青0542048）

摘　　要：目的探讨青年缺血性脑卒中与ATP结合盒转运子A1（ABCA1）基因R219K多态性的关系。方法用PCR—RFLP技术检测131名青年缺血性脑卒中患者和135名健康对照者ABCA1基因R219K多态性，并测定2组的血脂水平．缺血性脑卒中患者同时应用颈动脉B超检测颈动脉内膜、中膜厚度。结果青年缺血性脑卒中患者KK基因型分布明显低于对照组，差异有统计学意义（P〈0．05），其K等位基因频率亦较对照组明显降低，差异有统计学意义（P〈0．05）。KK基因型与青年缺血性脑卒中呈负相关[OR=0．379，95％CI（0．160～0．899）]，RI针KK基因型与青年缺血性脑卒中亦呈负相关[OR=0．563，95％CI（0．337～0．940）1。青年缺血性脑卒中患者、对照组中K等位基因携带者和非携带者血浆总胆固醇、三酰甘油、LDL—C、Apo—A、Apo—B水平差异无统计学意义（P〉0．05）；而携带者HDL—C水平较非携带者增高，差异有统计学意义（P〈0．05）。青年缺血性脑卒中患者K等位基因携带者和非携带者中吸烟、高血压、糖尿病的比例及体质指数差异无统计学意义（P〉0．05），而携带者的颈动脉内膜、中膜厚度较非携带者明显减少，差异有统计学意义（P〈0．05）。结论ABCA1基因R219K多态性与青年缺血性脑卒中的遗传易感性相关，其中K等位基因可能对缺血性脑卒中有保护作用。推测其保护机制为通过升高血浆HDL—C水平起到减缓颈动脉内膜、中膜增厚，避免动脉粥样硬化的作用。Objective To investigate the correlation between the R219K polymorphism in the ATP-binding cassette transporter A1 （ABCA1） gene and arterial ischemic stroke in young adults. Methods The R219K polymorphism in the A BCA 1 from 131 young patients with ischemic stroke and 135 age- and gender-matched controls was explored using polymerase chain reaction technique. The level of plasma lipids in the two groups was determined and carotid ultrasonography was employed to measure the carotid intima-media thickness （IMT）. Results The frequency distributions of R219K genotype was significantly different between young patients and controls, and the patients held fewer KK genotypes than the the controls （P〈0.05）; the K allele frequency in patients was less than that in controls （P〈0.05）. The KK genotype and ischemie stroke were negatively correlative （OR=0.379, 95% CI [0.160-0.899]）, so is the RK＋KK genotype （OR=0.563,95% CI [0.337-0.940]）. The level of serum total cholesterol, triglyceride, LDL-C, Apo-A and Apo-B in the K allele carriers did not obviously differ as compared with that in the non-K allele carriers for both patients and controls （P〉0.05）; the level of HDL-C in the K allele carriers was significantly higher as compared with that in the non-K allele carriers （P〈0.05）. The body mass index and prevalence of cigarette smoking, hypertension and diabetes did not show significant difference between the K allele carriers and the non-K allele carriers in patients; IMT of the patients with K allele carriers obviously decreased as compared with that with non-K allele carriers （P〈0.05）. Conclusion R219K polymorphism in A BCA 1 gene may be connected to the decreased risk of ischemic stroke in young adults and K allele may play its genetic protective roles, the mechanism of which is the decrement of carotid IMT to resist the atherosclerosis in a way of increasing the level of HDL-C.

关 键 词：缺血性脑卒中 青年 ABCA1基因 R219K多态性 

分 类 号：R686[医药卫生—骨科学]