过氧化物酶体增殖物激活受体γ_2基因Pro12Ala变异与冠心病及血脂的关系

目的:旨在探讨过氧化物酶体增殖物激活受体γ2(PPARγ2)基因Pro12Ala变异与冠心病及脂质代谢异常的关系。方法:随机选取湖北地区汉族人221例,其中对照组 125 例,冠心病组 96 例。应用聚合酶链反应 限制性片段长度多态性技术进行基因型检测,并用直接测序法加以证实。结果:①湖北地区汉族人群中,Ala12 携带者(PA/AA)的基因型及A等位基因频率分别为0.064和0.036,显著低于欧洲白种人(均为 P<0.01);② PPARγ2 Pro12Ala变异与冠心病的发病无关(P>0.05);③ PPARγ2 Pro12Ala变异与血脂异常有关。PA/AA基因型的冠心病患者,其血清总胆固醇(TC)及低密度脂蛋白胆固醇(LDL C)水平较 PP基因型者明显升高(均为 P<0.05);④ PPARγ2 Pro12Ala变异与体重指数、血压、血糖无关。结论:PPARγ2基因Pro12Ala变异存在种族差异。在湖北地区汉族人群中,该变异可能不是冠心病发病的遗传学因素。但是,该变异与冠心病患者的脂质代谢异常有关。

Relationship Between Pro12Ala Variant of Peroxisome Proliferator-activated Receptorγ2 Gene and Coronary Heart Disease, or Lipids Metabolic Disorders

Objective: To explore the relationship between Pro12Ala variant of peroxisome proliferator-activated receptor(PPAR)γ_ 2 gene and coronary heart disease(CHD), as well as lipids metabolic disorders. Methods: PPARγ_ 2 -Pro12Ala gene variant was detected using polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) and direct sequencing in 125 unrelated controls and 96 CHD patients. The clinical characteristics were also analyzed. Results: ① The frequencies of the Ala12 carriers(the subjects with the genotype of PA and AA) and the Ala allele in Hubei Hans population were 0.064 and 0.036, respectively, which were significantly lower than those in European(all P<0.01); ② Lack of association between PPARγ_ 2 gene variant and the presence of CHD(P>0.05); ③ PPARγ_ 2 gene Pro12Ala variant was associated with lipids metabolic disorders. In CHD group, the levels of total cholesterol and LDL-cholesterol were significantly higher in those of PA/AA genotype; ④ No differences were found with respect to BMI, blood pressure and blood surger among PPARγ_ 2 genotypes. Conclusion: There is a significant difference of PPARγ_ 2 gene Pro12Ala variant among various races.In Hubei Hans population, Pro12Ala variant of PPARγ_ 2 gene is associated with dyslipidemia in CHD patients, but is not associated with the presonce of coronary heart disease.