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Irish Child Health Database - Peer Reviewed Papers

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  • Association of transforming growth factor-beta1 gene polymorphism with reflux nephropathy

    Published in:

    J Urol, Vol: 174, Page: 1609-11; discussion 1611

    Publication Date:

    October 2005

    Aims & Objectives:

    The aim of this study was to investigate genotype frequencies for polymorphisms of the TGF-beta1 gene at position -509, codon 10 and 25, and examine circulating levels of TGF-beta1 in patients with reflux nephropathy

    Abstract:

    PURPOSE: Reflux nephropathy (RN) is recognized as a major cause of end stage renal failure in children and young adults. Transforming growth factor-beta1 (TGF-beta1) is a potent proinflammatory and fibrogenetic cytokine known to have a key role in the regulation of renal tissue fibrosis. We investigate genotype frequencies for polymorphisms of the TGF-beta1 gene at position -509, codon 10 and 25, and examine circulating levels of TGF-beta1 in patients with reflux nephropathy. MATERIALS AND METHODS: Renal scaring was evaluated with 99technetium dimercapto-succinic acid renal scan. Genotyping was performed in 123 patients with severe to moderate reflux nephropathy and 58 controls for the position -509, the coding region at position 10 and 25 of the TGF-beta1 gene polymorphisms by polymerase chain reaction, gel analysis and appropriate restriction digest. TGF-beta1 serum levels were measured with standard ELISA technique. RESULTS: The genotype distribution of -509-CT was significantly increased in the RN group compared to controls, (82% vs 37%). Similarly, there was a significant increase in the CC Lue(10)-->Pro (codon 10) genotype (77% vs 27.5%, p <0.05), while TC Lue(10)-->Pro was significantly lower (7.3% vs 43%, p <0.05) in patients compared to controls. There was no significant difference in the Arg(25)-->Pro (codon 25) TGF-beta1 genotypes distribution between patients and controls. There were no statistically significant differences in the serum levels of TGF-beta1 in children with RN (4.2 +/- 0.3 mIU/ml) compared to controls (3.9 +/- 0.4 mIU/ml) (p >0.05). CONCLUSIONS: Patients with TGF-beta1 -509 and Lue(10)-->Pro gene polymorphisms may be at higher risk for reflux nephropathy.

    Authors:

    V. Solari; D. Owen; P. Puri

    Study Type:

    Study Papers » Case Control Study » Analytical Studies

    Categories:

    genotype frequencies for polymorphisms of the TGF-beta1 gene; - reflux nephropathy

    International Classification:

    Diseases of the genitourinary system - reflux nephropathy

    Keywords:


    Geography:

    Republic of Ireland (Ireland)