ABCA1 R219K、-565 C/T基因多态性与早发冠心病的相关性研究  

Effects of ABCA1 gene R219K and-565 C/T polymorphisms on premature coronary heart disease

作　　者：安芳 王秀娟 李学文 李樱 赵季红 丛洪良[3] AN Fang;WANG Xiu-juan;LI Xue-wen;LI Ying;ZHAO Ji-hong;CONG Hong-liang(Department of General Medicine for Military Personnel,Characteristic Medical Center of Chinese People’s Armed Police Force,Tianjin 300162,China;Institute of Cardiovascular Disease Prevention and Control,Characteristic Medical Center of Chinese People’s Armed Police Force,Tianjin 300162,China;Department of Cardiology,Tianjin Chest Hospital,Tianjin 300222,China)

机构地区：[1]武警特色医学中心军人全科医学科,天津300162 [2]武警特色医学中心心血管病防治研究所,天津300162 [3]天津市胸科医院心内科,天津300222

出　　处：《心脏杂志》2023年第3期279-284,共6页Chinese Heart Journal

基　　金：天津市科学计划基金项目资助(15ZXLCSY00040);武警后勤学院研究项目资助(WHJZ202115)。

摘　　要：目的通过分析ABCA1基因多态性(R219K、-565 C/T)与血脂水平及炎症介质等临床指标的关系,明确其对早发冠心病发病风险的影响。方法收集本院心内科2020年5月~12月住院的120例早发冠心病患者为pCAD组;同时期88名本院体检中心的冠脉正常者为对照组,采用PCR-RFLP方法检测全血ABCA1(R219K、-565 C/T)基因多态性分型。结果与对照组相比,pCAD组219KK+RK基因型(P<0.01)、K等位基因(P<0.05)以及-565C等位基因(P<0.05)含量降低,而219R等位基因、-565CT+TT基因型及T等位基因频率较高(均P<0.05)。219 RK+KK基因型患者血浆HDL-C水平高于RR型患者(P<0.05),而TC、TG、LDL-C、ABCA1含量及炎症介质在不同基因型组间均无统计学差异。Logistic回归分析显示,与219RR基因型比较,KK及RK基因型的个体发生pCAD的风险分别降低70.7%(P<0.01)和62.1%(P<0.05),而ABCA1-565C/T不同基因型对pCAD发生风险及冠脉严重程度均无明显影响。结论ABCA1219K等位基因是pCAD的保护性因素,并可能通过调节HDL-C水平发挥作用。AIM To investigate the effect of ABCA1 gene polymorphism(R219K,-565 C/T)on the risk of premature coronary artery disease(pCAD)by analyzing the relationship between ABCA1 gene polymorphism(R219K,-565 C/T)and clinical indicators such as blood lipid level and inflammatory mediators.METHODS One hundred and twenty hospitalized premature coronary heart disease patients in the Department of Cardiology of our hospital from May to December 2019 were enrolled as pCAD group and 88 patients with normal coronary arteries from the physical examination center were selected as control group.PCR-RFLP method was used to detect ABCA1(R219K,-565 C/T)gene polymorphism from whole blood.RESULTS Compared with those in control group,the ratios of 219KK+RK genotype,K allele and-565C allele in pCAD group were significantly decreased(P<0.01),while the frequencies of 219R allele,-565CT+TT genotype and T allele were higher(P<0.05).Plasma HDL-C levels of 219 RK+KK genotype were higher than those of RR genotype patients(P<0.05),but there were no significant differences in plasma TC,TG,LDL-C,ABCA1 content and inflammatory mediators between different genotypes.Logistic regression analysis showed that the risk of pCAD in KK and RK genotypes was respectively 70.7%(P<0.01)and 62.1%(P<0.05),lower than that in 219RR genotypes.ABCA1-565C/T polymorphism had no significant effect on the risk of pCAD and the severity of coronary artery lesions.CONCLUSION ABCA1219K allele is a protective factor of pCAD and it may play the role by regulating HDL-C level.

关 键 词：三磷酸腺苷结合盒转运蛋白A1 基因多态性 早发冠心病 炎症 

分 类 号：R541.4[医药卫生—心血管疾病]