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目的 :探讨三磷酸腺苷 (ATP)结合盒子转运体 1(ATP bindingcassettetransporter 1;ABC1,ABCA1)基因多态性与冠心病 (CHD)发病和病情程度的相关性。方法 :使用多聚合酶链式反应 (PCR)和错配酶促切割法检测了2 2 2例CHD患者和 2 78例健康对照者的DNA ,分析了该基因编码区R2 19K多态性位点的不同基因型频率 ,其分布特点以及与血脂、CHD疾病程度的相关性。结果 :R2 19K的变异等位基因频率CHD组和对照组分别为 4 3.9%、5 0 .2 % ,P <0 .0 5 ,变异基因型 (KK)携带者频率在急性冠状动脉综合征 (ACS)组 :稳定型心绞痛 (SAP)组 :对照组为 2 0 .0 %∶2 6 .9%∶2 7.7% ,其ACS组与对照组差异有统计学意义 (P <0 .0 5 ) ,而SAP组与对照组差异无统计学意义 (P >0 .0 5 )。CHD组中KK基因型携带者的三酰甘油 (TG)水平低于RR基因型携带者 [(1.31± 0 .6 2 )∶(1.5 6±0 .6 3)mmol/L ,P <0 .0 5 ],而高密度脂蛋白水平高于后者 [(1.0 1± 0 .12 )∶(0 .96± 0 .14 )mmol/L ,P <0 .0 5 ]。结论 :ABCA1基因R2 19K多态性不仅与血脂水平并与CHD发病及病情严重程度明显相关。由于总体对象中K等位基因具有较高的频率 (4 7% ) ,计算的人群归因危险度结果提示 ,使本研究对象中CHD的患者减少了 12 %。
Objective: To investigate the association between the ATP binding cassette transmembrane 1 (ABC1, ABCA1) gene polymorphism and the incidence and severity of coronary heart disease (CHD). Methods: The DNA of 224 CHD patients and 2 78 healthy controls were detected by polymerase chain reaction (PCR) and mismatch enzymatic cleavage. The R2 19K polymorphism site Of different genotype frequencies, their distribution characteristics and the relationship between blood lipids and CHD disease. Results: The allele frequencies of R219K in CHD group and control group were respectively 3.9%, 5.2%, P <0.05. The frequencies of variant genotype (KK) carriers in acute coronary syndrome ACS group: stable angina pectoris (SAP) group: control group 20.0%: 26.9%: 7.76%, the ACS group and the control group, the difference was statistically significant (P <0.05) , While there was no significant difference between SAP group and control group (P> 0.05). The level of triglyceride (TG) in KK carriers in CHD group was lower than that in RR carriers [(1.31 ± 0.62) :( 1.56 ± 0.63) mmol / L, P <0). (P <0.05), while the level of HDL was higher than that of the latter [(1.01 ± 0.12): (0.96 ± 0.14) mmol / L, P <0.05). Conclusion: The R219K polymorphism of ABCA1 gene is not only related to the level of blood lipid, but also to the incidence of CHD and the severity of the disease. Because of the high frequency of K alleles in the overall population (47%), calculated population-attributable risk results suggest a 12% reduction in CHD among participants in this study.