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目的 探讨过氧化物酶增殖体激活受体 - γ2 (peroxisome proliferator- activated receptor- γ2 ,PPAR- γ2 )基因外显子 B的 Pro12 Ala变异与 2型糖尿病 (type2 diabetes mellitus,DM)及临床特征的关系。方法 应用聚合酶链反应 -限制性片段长度多态性测定了无亲缘关系的 40 1名华南地区汉族人 PPAR- γ2基因外显子 B的 Pro12 Ala变异 (包括 180名糖耐量正常者及 2 2 1例 2型糖尿病患者 )。结果 PPAR- γ2基因 P等位基因和 A等位基因在 2型糖尿病组和对照组的分布频率分别为 96 .15 %、96 .11%和 3.85 %、3.89% ;PP基因型频率为 92 .77%、92 .2 2 % ,PA基因频率为 6 .78%、7.78% ,AA基因频率为 0 .45 %、0。两组人群的基因型和等位基因频率差异无显著性。在 2型糖尿病组 PPAR-γ2基因外显子 B的 Pro12 Ala变异与腰围及腰臀比相关 (P=0 .0 37,P=0 .0 12 )。提示我国人群 PPAR- γ2基因的 Pro12 Ala多态性的分布频率与日本人群相近 ,与欧美人群差异较大。结论 此组资料显示 ,PPAR-γ2基因外显子 B的 Pro12 Ala变异与 2型糖尿病发病无明显关联 ,但与 2型糖尿病患者的腹型肥胖有关 ;PPAR- γ2基因的 Pro12 Ala多态性具有明显的种族差异。
Objective To investigate the clinical significance of Pro12 Ala mutation in exon B of peroxisome proliferator-activated receptor-γ2 (PPARγ2) gene and type 2 diabetes mellitus (DM) relationship. Methods Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to determine the Pro12 Ala polymorphism of PPAR-γ2 exon B in unrelated 40 Han Chinese population (including 180 normal glucose tolerance and 22 1 patient with type 2 diabetes). Results The frequencies of P allele and A allele of PPAR-γ2 gene were 96.15%, 96.11% and 3.85%, 3.89% in type 2 diabetes mellitus group and control group, respectively. The frequency of PP genotype was 92%. 77%, 92.22%. The frequency of PA gene was 6.78% and 7.78%, respectively. The frequency of AA gene was 0.45%. There was no significant difference in genotype and allele frequencies between the two groups. Pro12 Ala mutation in exon B of PPAR-γ2 gene in type 2 diabetic patients was associated with waist circumference and waist-hip ratio (P = 0.37, P = 0.012). This suggests that the distribution frequency of Pro12 Ala polymorphism of PPAR-γ2 gene in Chinese population is similar to that in Japanese population, which is quite different from those in Europe and the United States. Conclusion This group of data shows that the Pro12 Ala mutation in exon B of PPAR-γ2 gene is not significantly associated with the onset of type 2 diabetes mellitus, but is associated with abdominal obesity in type 2 diabetic patients. The Pro12 Ala polymorphism of PPAR-γ2 gene has Significant racial differences.