Correlation between R219K polymorphism in the ATP-binding cassette transporter A1 gene and ischemic stroke in young adults / 中华神经医学杂志

ABSTRACT

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.