冠心病患者ATP结合盒转运子1基因R219K变异的研究

The study on ABCA1R219K genetic variation in patients with coronary heart disease

目的 探讨ATP结合盒转运子1基因(ATP-binding cassette transporter 1,ABCA1)R219K变异与我国冠心病发病风险的关系。方法 采用病例-对照研究,对236例冠心病患者和251例正常对照组进行研究。采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)方法测定ABCA1基因多态性。结果 在中国湖南汉族人群ABCA1R219K变异的三种基因型中,RK型发生频率最高,RR型次之,KK型发生频率最低。冠心病组中KK基因型频率(12.3％)明显低于对照组(19.1％)(P<0.05)。KK基因型的HDL-C水平明显高于RR型(P<0.05),KK型甘油三酯水平虽然低于RR型,但差异无显著性(P>0.05)。多因素logistic回归分析冠心病患者中KK基因型的OR值为0.559(95％ CI 0.322～0.972,P=0.039)。结论 ATP结合盒转运子1基因R219K变异KK型产生有益的临床血脂谱,可能是冠心病患者的低危遗传标记。

Objective To investigate the correlation between coronary heart disease and the ATP-binding cassette transporter 1 (ABCA1)R219K genetic variation. Methods This was a case-control study, which enrolled 236 patients with coronary heart disease and 251 healthy controls. The genotype and allele frequencies of ABCA1R219K genetic variation were assayed by polymerase chain reaction-restricted fragments length polymorphism ( PCR-RFLP). Results The highest frequency of ABCA1R219K genetic variation was RK genotype, the next was RR genotype and the lowest was KK genotype in Han population of Hunan Province, China. The KK genotype frequency in the coronary heart disease group( 12. 3% ) was lower than that in the healthy control( 19. 1% ) (P < 0. 05). The KK genotype had a higher HDL-C level (P < 0. 05) and an insignificant lower TG level than RR genotype (P > 0. 05 ). In multiple logistic regression analysis, the KK genotype odds ratio for coronary heart disease was 0. 559 (95% CI 0. 322 - 0. 972, P = 0. 039). Conclusion The KK genotype of ABCA1R219K genetic variation results in a beneficial profile of blood lipids, which may be a novel genetic marker for low risk of coronary heart disease.