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


CONCLUSIONS
We suggest that TGF-βR2 polymorphisms (rs764522 and rs3087465) increase the risk of development of ESRD.
Division of Nephrology, Department of Internal Medicine, Kyung Hee University School of Medicine, Seoul, Korea.
Hye-Jin
HJ
Ki
Division of Nephrology, Department of Internal Medicine, Kyung Hee University School of Medicine, Seoul, Korea.
Se Yun
SY
Kim
Division of Nephrology, Department of Internal Medicine, Kyung Hee University School of Medicine, Seoul, Korea.
Sang Ho
SH
Lee
Division of Nephrology, Department of Internal Medicine, Kyung Hee University School of Medicine, Seoul, Korea.
Ju-Young
JY
Moon
Division of Nephrology, Department of Internal Medicine, Kyung Hee University School of Medicine, Seoul, Korea.
Kyung Hwan
KH
Jeong
Division of Nephrology, Department of Internal Medicine, Kyung Hee University School of Medicine, Seoul, Korea.
Tae Won
TW
Lee
Division of Nephrology, Department of Internal Medicine, Kyung Hee University School of Medicine, Seoul, Korea.
Chun Gyoo
CG
Ihm
Kohwang Medical Research Institute, School of Medicine, Kyung Hee University, Seoul, Korea.
Su Kang
SK
Kim
Kohwang Medical Research Institute, School of Medicine, Kyung Hee University, Seoul, Korea.
Joo-Ho
JH
Chung
Division of Nephrology, School of Medicine, Inje University Paik Hospital, Seoul, Korea.
Sun Woo
SW
Kang
Division of Nephrology, School of Medicine, Inje University Paik Hospital, Seoul, Korea.
Tae Hee
TH
Kim
Division of Nephrology, School of Medicine, Inje University Paik Hospital, Seoul, Korea.
Yeong-Hoon
YH
Kim
Division of Nephrology, Department of Internal Medicine, Kyung Hee University School of Medicine, Seoul, Korea.
Yang Gyun
YG
Kim
End-stage renal disease; Fibrosis; Transforming growth factor-beta