糖尿病合并冠心病与芳香酯酶基因Q192R多态性分析

Relationship between Arylesterase/paraoxonase Q192R Gene Polymorphism and Patients with Type 2 Diabetes Mellitus Complicated Coronary Artery Disease

目的 :探讨糖尿病 (DM)芳香酯酶 (ArE/PON1)基因Q192R多态性与糖尿病合并冠心病 (DM -CAD)的关系 ,为防治DM -CAD提供理论依据。方法 :调查对象为郑州地区汉族健康人群 6 4例 (对照组 )、2型糖尿病 6 0例 (DM组 )与DM -CAD6 7例 (DM -CAD组 )。测定其血清ArE/PON1活性 ,并用聚合酶链式反应 -单链构型多态性 (PCR -SSCP)分析技术检测ArE/PON1基因Q192R的多态性 ,进行分析研究。结果 :发现对照组、DM组和DM -CAD组均存在ArE/PON1基因 192位点 (Q/R)多态性。对照组基因频率Q为 0 .5 5、R为 0 .4 5 ;DM组为 0 .5 3与 0 .4 7;DM -CAD组为 0 .38与 0 .6 2。DM -CAD组R基因频率明显高于DM组和对照组 (P <0 .0 5 ) ,DM组与对照无显著差异 (P >0 .0 5 ) ,DM与DM -CAD组血清ArE/PON1活性 (分别为 0 .2 2 5± 0 .0 18μ/ml与 0 .2 0 0± 0 .0 19μ/ml)均低于对照组 (0 .2 5 9± 0 .0 18μ/ml) ,DM -CAD组低于DM组 (P <0 .0 5 )。 3组中每组内每种基因型组间酶活性无显著差异。结论 :郑州汉族人群存在ArE/PON1Q192R(GIn/Arg)多态性 ,基因频率分布不同于白种人 ,提示R基因可能是DM合并CAD的危险因素。

Objective: To investigate the relationship between arylesterase/paraoxonase(ArE/PON1) activity, PON1 192 gene polymorphism and coronery artery diseases (DM-CAD) complication in type 2 diabetes mellitus (type 2 DM) in han nationality of Chinese population at Zhengzhou, and its clinical significance. Methods: Serum ArE/PON1 activity and its 192 gene polymorphism were determined in 60 patients with type 2 diabetes mellitus, 67 DM complicated with coronary artery disease, and 64 healthy subjects (control group). Serum activities of ArE/PON1 were determined by color method, ArE/PON1 192 core gene polymorphism were detected by PCR-SSPC method. Results: The frequency of the Q allele (glutamine) and R (arginine) was 0.55 and 0.45 in healthy subjects respectively, 0.53 and 0.47 in patients with DM, 0.38 and 0.62 in DM-CAD. There were significant differences in the frequency of the Q and R allele between DM-CAD and DM, control groups (P<0.05), There was no difference in the frtquency of Q and R between DM and controlt group (P>0.05). The R gene frequency in CAD was higher than that in DM and control group. Serum ArE/PON1 activity was 0.225± 0.018μ·ml -1 in DM, and 0.200±0.019μ·ml -1 in DM-CAD. Serum ArE/PON1 activity in DM and DM-CAD were lower than that of control group (0.259± 0.018μ·ml -1), Level of enzymic activity was lowest in patients with DM-CAD. Serum ArE/PON1 activity were no difference among every genotype group in three kinds of observed population. Conclusion:ArE/PON1Q192R polymorphism was found in han nationality of Chinese population at zhengzhou, These results show that the frequency of the Q and R allele in han nationalty at Zhengzhou were different with in white population. it suggestes that R allele might be a risk factor for DM-CAD.