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Transforming growth factor-β receptor 2 gene polymorphisms are associated with end-stage renal disease

Hye-Jin Ki1, Se Yun Kim1, Sang Ho Lee1

  • 1Division of Nephrology, Department of Internal Medicine, Kyung Hee University School of Medicine, Seoul, Korea.

Kidney Research and Clinical Practice
|October 21, 2015
PubMed
Abstract

Insights

Polymorphisms in the transforming growth factor-beta receptor 2 (TGF-βR2) gene, specifically rs764522 and rs3087465, are linked to an increased risk of developing end-stage renal disease (ESRD). This finding highlights a potential genetic predisposition to ESRD.

Area of Science:

  • Genetics
  • Nephrology
  • Molecular Biology

Background:

  • Transforming growth factor-beta (TGF-β) is a key cytokine regulating cellular processes and is implicated in various diseases, including chronic kidney disease.
  • Gene polymorphisms in TGF-β receptors (TGF-βR) have been associated with chronic kidney disease.
  • The specific link between TGF-β gene polymorphisms and end-stage renal disease (ESRD) requires further investigation.

Purpose of the Study:

  • To investigate the association between single-nucleotide polymorphisms (SNPs) in TGF-βR2 and TGF-β2 genes and the risk of developing ESRD.
  • To test the hypothesis that polymorphisms in TGF-β ligands or receptors contribute to ESRD development.

Main Methods:

  • Genotyping analysis was performed on 312 ESRD patients and 258 control participants.
  • Four specific single-nucleotide polymorphisms (SNPs) in the TGF-βR2 and TGF-β2 genes were assessed.
  • Statistical models (codominant, dominant, log-additive) were used to evaluate the association with ESRD, adjusting for age and sex.

Main Results:

  • Allele frequencies for TGF-βR2 SNPs rs764522(⁎)C and rs3087465(⁎)G were significantly higher in ESRD patients compared to controls.
  • Two TGF-βR2 SNPs (rs764522 and rs3087465) showed a significant association with ESRD across multiple genetic models.
  • Odds ratios (ORs) ranged from 1.39 to 1.65, indicating an increased risk of ESRD associated with these polymorphisms.

Conclusions:

  • TGF-βR2 polymorphisms, specifically rs764522 and rs3087465, are associated with an increased risk of ESRD.
  • These genetic variations may play a role in the pathogenesis of end-stage renal disease.
  • Further research is warranted to elucidate the functional mechanisms linking TGF-βR2 polymorphisms to ESRD.
Keywords:
End-stage renal diseaseFibrosisTransforming growth factor-beta

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