三磷酸腺苷结合盒转运子基因R219K多态与脑梗死的关系

Relationship between the R219K polymorphism of ATP-binding cassette transporter 1 gene and cerebral infarction

目的探讨脂代谢相关基因三磷酸腺苷结合盒转运子(ABCA1)的R219K多态与脑梗死及血脂的关系。方法收集国内8家医院神经内科收治的脑梗死患者177例(脑梗死组),另选健康体检者234例(对照组)。全部患者经过头颅MRI或CT确诊,生化指标经全自动生化仪统一测定,用PCR-RFLP方法分析R219K多态。结果ABCA1基因R219K基因型分布为RR 20.20%、RK 52.55%、KK 27.25%。ABCA1基因R219K多态R等位基因频率为46.47%,K等位基因频率为53.53%。ABCA1基因的R219K多态RR型及R等位基因在脑梗死组分布较对照组多,但差异无统计学意义(P>0.05)。性别分层后比较发现,男性R219K多态RR型及R等位基因在脑梗死组分布较对照组明显增多,差异有统计学意义(P<0.05);男性脑梗死患者R219K多态RR型及R等位基因较女性脑梗死患者明显增多,差异有统计学意义(P<0.05);这种差异在脑梗死组女性与对照组女性中不存在。ABCA1基因的R219K多态在人群中和脑梗死患者中各基因型间血脂水平无统计学差异。结论ABCA1基因的R219K多态RR型可能是男性患脑梗死的易感基因,其机制可能与血脂水平无关。

Objective To study the distribution of R219K polymorphism of ATP-binding cassette transporter 1 （ABCA1）gene in Chinese Han population of six provinces and the association of this polymorphism with cerebral infarction. Methods The three genotypes of R219K polymorphisms in the promoter region of the ABCA1 gene were detected using polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP） in 177 cerebral infarction patients and 234 controls from eight hospitals of China. Results The ABCA1 R219K genotype distribution was RR 20.20%,RK 52. 55% and KK 27. 25%. Allele frequencies for R and K were 46. 47% and 53.53 %. There was no significant difference in ABCA1 R219K genotype and allele between cerebral infarction patients and controls（ P 〉0.05）, but there was significant difference in men between cerebral infarction and controls. RR genotype in men showed a high frequency in cerebral infarction compared with controls（ P 〈0.05）. There was no significant difference in women. The levels of lipids among RR,RK and KK genotypes did not tend to be different. Conclusions The RR genotype of ABCA1 R219K may has adverse effect on cerebral infarction in men. Its mechanism may has no relation with lipid level.