目的:研究转化生长因子-β1-509(transforming growth factor-β1-509,TGF-β1-509)基因多态性各等位基因及基因型在绝经后女性2型糖尿病(type 2 diabetes mellitus,T.DM)患者中的分布频率,探讨其基因型及分布频率与骨质疏松症(osteoporosis,OP)的相关性.方法:上海地区汉族绝经女性患者共282例,其中OP患者105例(OP组),T2DM患者骨量正常患者90例(T2DM组),T2DM并发OP患者87例(T2DM并发OP组)；另取健康绝经女性82例作为对照(对照组).检测TGFβ1-509基因多态性、第2～4腰椎(L2-4)骨密度(bone mineral density,BMD),同时检测血浆糖化血红蛋白A1c( hemoglobin A1c,HbA1c).比较各临床指标与TGF-β1-509基因型的相关性.结果:OP组、T2 DM组、T2 DM并发OP组和对照组TGF-β1-509相比,等位基因型C、T的分布均无显著差异.合并OP组(OP组+T2DM并发OP组)和非OP组(T2 DM组+对照组)TGF-β1-509等位基因型C、T的分布频率比较有显著差异(P=0.015).CC基因型、CT基因型、TT基因型比较,其HbA1c差异无统计学意义.结论:TGF-β1-509等位基因型T可能是OP的易感基因,T2 DM患者TGF-β1-509基因型与HbA1c无相关性.%Objective: To explore the distribution of polymorphism of transforming growth factor-betal (TGF-β1) gene in shanghai post-menopausal women with type 2 diabetes mellitus (T2DM),and to investigate the relationship between TGF-β1 genotypes and osteoporosis(OP). Methods: A total of 282 unrelated post-menopausal women of Han nationality in Shanghai region were recruited and divided into three groups. They were OP group (Group OP n = 105),T2DM group (Group T2DM,n = 90) and T2DM + OP group (Group T2DM + OP n = 87). Another 82 healthy post-menopausal women of Han nationality in Shanghai region were also enrolled (Group control n = 82). TGF-pl-509 gene polymorphism as well as hemoglobin A1c (HbA1c) were detected,and the bone mineral density (BMD) in lumbar spine (L2-4) was measured. Results: There was no significant difference in the distribution of allele T and C among Group OP,Group T2DM and Group T2DM + OP. The allele frequency distribution on C and T in subjects with OP (Group OP,Group T2DM + OP) and without OP (Group T2DM,Group control) showed significant difference (P-0. 015). There were no significant differences in the levels of HbAlc among the different genotypes of CC,CT and TT. Conclusions: TGF-β1-509 T allele may be the susceptible gene to OP. The TGF-β1-509 genotypes of T2DM patients of had no correlation with HbAlc.
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