Association Of A-509C/T Polymorphism Of The TGF-β1 Gene With Tubulointerstitial Fibrosis In Primary Nephrotic Syndrome

Objective: To investigate the association of TGF 13 1 gene -509 C/T polymorphism with nephrotic syndrome in Han nationality of Chinese population.Methods: 98 nephrotic syndrome patients and 128 normal controls were studied. The TGF-β1 gene -509 C/T polymorphism in the 5'-flanking region was detected with the polymerase chain reactionrestriction fragment length polymorphism(PCR-RFLP) technique, and the serum level of TGF-β1 was determined by enzyme-linked immunosorbent assay(ELISA).Results:1. There were three genotypes (CC, CT, TT) and 2 allele gene(CorT) of the TGF-β1 gene -509 position in nephrotic syndrome and control group.2. There weren't statically significant difference of genotypes frequency [CC,CT,TT=32.8%,49.2%,18.0% (NC group): 45.9%, 38.8%, 15.3%(NS group) x~2=2.896,P=0.089] and allele frequency [C, T=57%, 43% (NC组)VS. 65%, 35% (NS组),P＞0.05] of-509C/T polymorphism in TGFβ1 gene between primary nephrotic syndrome and normal control subjects.3. Genotype frequency of NS severity group(46.3%) is markedly higher than that of NS mild group and NC group ( x~2=2.986, P=0.032 ) .There was no significantly difference between NS mild group and NC group.4. The T allele frequencies in nephrotic syndrome and control group were 35.3% and 46.6%, respectively, with no significant difference. There were a greater proportion of individuals with the TT genotype in the severe group in comparison with the mild kidney damage and control group.5. With the development of primary nephrotic syndrome, the serum concentration of TGF 13 1 increased. The serum concentration of TGFβ1 were significantly difference between NS severity group and NS mild group [(41.57±10.55)μg/L:(36.89±9.75)μg/L,P＜0.05].Conclusion:1. TGFβ1 gene include 3 genotype(CC, TC, TT)and 2 allele gene (CorT) in Chinese people.2. There weren't statically significant difference of genotypes frequency and allele frequency of-509C/T polymorphism in TGFβ1 gene between NS group and NC group. There weren't enough association of the polymorphism with primary nephrotic syndrome.3. The -509C/T polymorphism of the TGFβ1 gene is significantly associated with type primary nephrotic syndrome. TGFβ1 gene-509C/T mutation is one of the genetic susceptible factors for primary nephrotic syndrome, mutate T allele gene is susceptible gene of primary nephrotic syndrome.4. Serum concentration of TGF 13 1 was associated with the progression of primary nephrotic syndrome.5. To observe the serum TGF-betal and TGFβ1 gene polymorphism will contribute to find and treat primary nephrotic syndrome early, prolong the time that patients live as well as promote the quality of life.