Kidney Research and Clinical Practice (Jun 2015)

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

  • Hye-Jin Ki,
  • Se Yun Kim,
  • Sang Ho Lee,
  • Ju-Young Moon,
  • Kyung Hwan Jeong,
  • Tae Won Lee,
  • Chun Gyoo Ihm,
  • Su Kang Kim,
  • Joo-Ho Chung,
  • Sun Woo Kang,
  • Tae Hee Kim,
  • Yeong-Hoon Kim,
  • Yang Gyun Kim

DOI
https://doi.org/10.1016/j.krcp.2015.05.002
Journal volume & issue
Vol. 34, no. 2
pp. 93 – 97

Abstract

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Background: Transforming growth factor-beta (TGF-β) is a multifunctional cytokine involved in immune disorders, cancer, asthma, lung fibrosis, and chronic kidney disease, and its signal pathways are considered crucial mediators of a variety of cellular processes. In addition, several recent studies have reported that TGF-β receptor (TGF-βR) gene polymorphism is associated with chronic kidney disease. However, the association between end-stage renal disease (ESRD) and the TGF-β gene polymorphism has not been sufficiently investigated. In this study, we hypothesized that polymorphisms of the TGF-β ligands or their receptors may be related to ESRD. Methods: We assessed the relationship between four single-nucleotide polymorphisms (SNPs) in the TGF-βR2 and TGF-β2 genes and ESRD, in 312 patients with ESRD and 258 controls. Results: Compared with the control participants, the frequencies of the TGF-βR2 (rs764522⁎C) and TGF-βR2 (rs3087465⁎G) alleles were significantly higher in the patients with ESRD. Genotyping analysis demonstrated that two SNPs in TGF-βR2 of the four SNPs included in the study were significantly associated with ESRD in the codominant 1 [rs764522, odds ratio (OR)=1.65; rs3087465, OR=1.63], dominant (rs764522, OR=1.63; rs3087465, OR=1.57), and log-additive (rs764522, OR=1.54; rs3087465, OR=1.39) models after adjusting for age and sex. Conclusion: We suggest that TGF-βR2 polymorphisms (rs764522 and rs3087465) increase the risk of development of ESRD.

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