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目的研究转化生长因子β1(TGFβ1)基因多态性各等位基因及基因型在2型糖尿病肾病患者中的分布频率,初步分析其基因型及血清水平与2型糖尿病肾病的相关性。方法采用序列特异性引物聚合酶链反应(PCRSSP)和聚合酶链反应限制性片段长度多态性(PCRRFLP)技术,检测183例2型糖尿病患者(其中91例伴糖尿病肾病)及105名正常对照组TGFβ1的基因多态性,包括TGFβ1基因启动子-800G/A、-509C/T位点和第1号外显子+869T/C(Leu10Pro)及+915G/C(Arg25Pro)位点,同时采用酶联免疫吸附试验(ELISA)检测血清TGFβ1水平。结果糖尿病肾病组血清TGFβ1水平显著高于糖尿病不伴肾病组和对照组(均P<001),TGFβ1基因-800G/A、-509C/T、+915G/C(Arg25Pro)位点多态性在糖尿病肾病组和正常人群中的分布差异无统计学意义(均P>005),而TGFβ1+869T/C(Leu10Pro)基因多态性在两组人群中的分布差异存在统计学意义(均P<005),等位基因频率的相对风险分析发现,C等位基因携带者患糖尿病肾病的风险是T等位基因的1618倍(比值比=1618,95%CI1082~2418),携带C等位基因的糖尿病肾病患者血清TGFβ1水平显著高于不携带者[(4489±957)μg/L比(3748±864)μg/LP<005]。结论TGFβ1基因+869T/C(Leu10Pro)多态性与糖尿病肾病的发病具有相关性,其中C等位基因可能是?
Objective To investigate the distribution of TGFβ1 polymorphism alleles and genotypes in patients with type 2 diabetic nephropathy and its association with genotype and serum levels and type 2 diabetic nephropathy. Methods 183 patients with type 2 diabetes mellitus (91 with diabetic nephropathy) and 105 normal controls were detected by polymerase chain reaction-sequence-specific polymerase chain reaction (PCRSSP) and polymerase chain reaction restriction fragment length polymorphism (PCRRFLP) The gene polymorphisms of TGFβ1, including the TGFβ1 promoter -800G / A, -509C / T and exon + 869T / C (Leu10Pro) and +915G / C (Arg25Pro) Serum TGFβ1 levels were detected by enzyme linked immunosorbent assay (ELISA). Results The levels of TGFβ1 in diabetic nephropathy group were significantly higher than those in non-diabetic nephropathy group and control group (all P <0.001). The polymorphisms of TGFβ1 gene -800G / A, -509C / T and + 915G / C The distribution of TGFβ1 + 869T / C (Leu10Pro) gene polymorphism in diabetic nephropathy group and normal population was not statistically different (all P> 005) 005). Relative risk analysis of allele frequency found that carriers of C allele had a 1618-fold increased risk of diabetic nephropathy compared with the T allele (odds ratio = 1618, 95% CI 1022-2418), carriers of the C allele Of patients with diabetic nephropathy serum TGFβ1 levels were significantly higher than those without carriers [(4489 ± 957) μg / L ratio (3748 ± 864) μg / LP <005]. Conclusion The polymorphism of TGFβ1 gene + 869T / C (Leu10Pro) is associated with the pathogenesis of diabetic nephropathy. Which C allele may be?