冠心病与三磷酸腺苷结合盒转运子A1基因R219K多态性关联的研究  

Study on Relationship between Coronary Heart Disease and the Polymorphism of ABCA1 Gene R219K

作　　者：夏中华[1] 黄健[2] 戴玲[2] 

机构地区：[1]桂林医学院附属医院心内科,广西壮族自治区桂林市541001 [2]桂林医学院基础学院

出　　处：《中国全科医学》2011年第3期252-254,共3页Chinese General Practice

基　　金：广西科学基金(桂科基0448081)

摘　　要：目的探讨三磷酸腺苷结合盒转运子A1(ABCA1)基因R219K多态性与冠心病发病的相关性。方法采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术,对227例冠心病患者(冠心病组)和162例非冠心病患者(对照组)的ABCA1基因R219K位点G→A(Arg219Lys)进行检测,分析基因型和等位基因频率分布特点以及与血脂、冠心病发病的相关性。结果冠心病组RR基因型频率(42.3%)明显高于对照组(31.5%),差异有统计学意义(P<0.05);而KK型频率(10.6%)显著低于对照组(20.4%),差异有统计学意义(P<0.05)。突变纯合基因(KK)携带率在急性冠状动脉综合征(ACS)组为10.1%,稳定型心绞痛(SAP)组为11.6%,对照组为20.4%,其中ACS组与对照组间差异有统计学意义(P<0.05),而SAP组与ACS组间差异无统计学意义(P>0.05)。冠心病组中KK基因型携带者的三酰甘油(TG)水平为(1.43±0.59)mmol/L,低于RR基因型携带者的(1.87±1.34)mmol/L,差异有统计学意义(P<0.05),KK型基因携带者高密度脂蛋白胆固醇(HDL-C)水平为(1.34±0.35)mmol/L,高于RR基因型携带者的(1.09±0.18)mmol/L,差异有统计学意义(P<0.05)。结论 ABCA1基因R219K多态性不仅与血脂水平有关,与冠心病发病也相关。Objective To investigate relationship between the polymorphism of ABCA1 gene R219K and coronary heart disease （CHD）. Methods ABCA1 gene R219K locus G→A （Arg219Lys） were detected by polymerase chain - restriction fragment length polymorphism （ PCR - RFLP） technique in 227 patients with coronary heart disease （ CHD group） and 162 patients without coronary heart disease （control group）. Genotype frequency and allele frequency distribution characteristics were analyzed, as well as the relationship between blood lipids and CHD. Results Compared with the control group, RR genotype frequency of CHD group （42. 3% ） was significantly higher （31.5%） （P 〈0. 05 ）; while the KK- frequency （10. 6% ） was significantly lower than the control group （20.4%） （P 〈0. 05）. Variant genotype （KK） carrier frequency was 10. 1% in patients with acute coronary syndrome （ACS） group, 11.6% in stable angina pectoris （SAP） group and 20.4% in the control group, the difference between the ACS group and control group was significant （P 〈 0. 05） , while the difference between the SAP group and control group was not significant （ P 〉 0. 05 ）. Triglyceride （ TG ） level of KK genotype in the CHD group （ 1.43 ± 0. 59） mmol/L] was significantly lower than that of the RR genotype [ （ 1.87 ± 1.34） mmol/L] （ P 〈 0. 05 ）, while high - density lipoprotein level of the KK - type gene carriers [ （ 1.34 ±0. 35 ） mmol/L] was significantly higher than that of the RR genotype [ （ 1.09 ±0. 18 ） mmol/L） （ P 〈0. 05 ）. Conclusion Polymorphism of ABCA1 gene R219K is associated not only with the level of serum lipid, but also with the CHD.

关 键 词：冠心病 ATP结合盒子转运体1 基因 多态性 

分 类 号：R543.31[医药卫生—心血管疾病]