ABCA1基因R219K多态性与青年缺血性脑卒中的相关性研究

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)1,RK+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)].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.

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

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 ABCA1 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 ischemic 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 BCA1 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.