过氧化物酶增殖体激活受体-γ2基因Pro12Ala变异与2型糖尿病的关系  

Association of Pro12Ala variant in peroxisome proliferator-activated receptor-γ2 gene with type 2 diabetes mellitus

作　　者：傅茂[1] 程桦[1] 李秀钧[2] 李洁[2] 吴斌[1] 陈黎红[1] 蔡梦茵[1] 傅祖植[1] 

机构地区：[1]中山医科大学孙逸仙纪念医院内分泌科,广州510120 [2]四川大学华西医院内分泌科

出　　处：《中华医学遗传学杂志》2002年第3期234-238,共5页Chinese Journal of Medical Genetics

基　　金：国家高等学校博士点基金 (9946) ;广东省卫生厅基金 (1 9991 67)~~

摘　　要：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 association of Pro12Ala variant in peroxisome proliferator-activated receptor-γ2 gene with type 2 diabetes mellitus and its clinical characteristics. Methods The genotypes of Pro12Ala variant in peroxisome proliferator-activated receptor-γ2 gene were determined by polymerase chain reaction-restriction fragment length polymorphisms assay in 401 unrelated subjects of the Han population in the southern part of China (including 180 subjects with normal glucose tolerance and 221 type 2 diabetic patients). The clinical data were also analyzed.Results The allele frequencies in the case and control groups were 96.15%,96.11% for P and 3.85%, 3.89% for A; the genotype frequencies were 92.77%, 92.22% for PP, 6.78%, 7.78% for PA and 0.45%, 0 for AA. The Pro12Ala variant of peroxisome proliferator-activated receptor-γ2 was not significantly associated with type 2 diabetes. The Pro12Ala polymorphism of peroxisome proliferator-activated receptor-γ2 in diabetes patients was associated with increased waist circumference and waist to hip ratio. The Pro12Ala polymorphism in Chinese population was similar to that in Japanese population and was different from that in European and American population. Conclusion The above data showed that the Pro12Ala variant of peroxisome proliferator-activated receptor-γ2 was not significantly associated with type 2 diabetes, but it could be associated with abdominal obesity in type 2 diabetes. The significant difference of Pro12Ala of peroxisome proliferator-activated receptor-γ2 among various races was observed.

关 键 词：2型糖尿病 过氧化物酶增殖体激活受体-γ 遗传多态性 腹型肥胖 

分 类 号：R587.1[医药卫生—内分泌]