TGF-β1基因Leu10Pro多态性与T2DM肾病的相关性研究

目的探讨转化生长因子β1（TGF-β1）基因Leu10Pro多态性在郑州市汉族健康人群和糖尿病肾病（DN）患者中的分布以及与DN的相关性，并比较不同基因型个体血清TGF-β1表达水平。方法采用PCR-SSP法检测DN组患者280例、非DN（Non-DN）组患者280例和正常对照（NC）组270名TGF-β1基因Leu10Pro多态性，ELISA法检测血清TGF-β1水平。结果DN组TGF-β1基因Leu10Pro基因型频率和等位基因频率分布与Non-DN组和NC组比较差异有统计学意义（P均〈0.05）。Leu/Pro基因型携带者患DN的风险是Leu/Leu纯合子基因型的1.615倍；含等位基因Pro的基因型（Pro＋）携带者、DN患者血清TGF-β1水平显著高于非携带者、DN组和NC组（P均〈0.05）。结论TGF-β1基因Leu10Pro多态性与DN的发病有关联，并影响DN患者血清TGF-β1表达水平，提示Pro等位基因可能是DN发病的一个危险因子。

Study of relationship between TGF-β Leu 10 Pro polymorphism and diabetic nephropathy in type 2 diabetes

Objective To explore the relationship between TGF-β1 Leu10 Pro polymorphism and diabetic nephropathy in Chinese Han people. Methods The genotype of TGF-β1 was detected by PCR-SSP method in 280 patients with diabetic nephropathy （DN）, 280 patients without diabetic nephropathy （Non-DN） and 270 healthy controls（NC）, and the serum level of TGF-β1 was measured by enzyme-linked immunosorbent assay （ELISA）. Results There was a significant difference in frequencies of allele and genotype in Leu10 Pro polymorpbism between DN and Non-DN or NC （all P〈0. 05）. The relative risk of Leu/Pro genotype was 1. 615 times the Leu/Leu genotype （OR 1. 615, 95% CI： 1. 012-2. 437）. The serum TGF-131 level was higher in genotypes with allele Pro than in Leu/Leu genotype（41.95 ± 8. 94）μg/L vs（35. 13 ± 5.33）μg/L, P〈0. 05]. DN group showed significantly higher serum level of TGF-βI versus Non-DN and control group（all P〈0. 05）, Conclusion TGF-β1 polymorphism is associated with DN, Pro allele may be a risk factor for DN, its polymorphism may affect the serum level of TGF-β1.