title: Association of TGF-beta1 polymorphisms with chronic renal disease.
abstract: BACKGROUND
  Transforming growth factor beta1 (TGF-beta1) plays an important role in tissue fibrosis and has been found to participate in cardiovascular disease (CVD). This study aimed to evaluate the association of TGF-beta1 polymorphisms with chronic renal disease (CRD), and its progression to dialysis in a retrospective longitudinal study of an end-stage renal disease (ESRD) cohort.
  
  
  METHODS
  The Arg/Pro (codon 25) and Leu/Pro (codon 10) polymorphisms were genotyped in 104 ESRD patients aged 64 +/- 14 yrs (mean +/- SD), 62 males, and in 104 matched controls.
  
  
  RESULTS
  The genotype distribution of Leu10Pro and Arg25Pro polymorphisms was different between patients and controls: Leu/Leu, Leu/Pro, Pro/Pro: 0.35, 0.50, 0.15 vs. 0.30, 0.24, 0.46 (p=0.001) and Arg/Arg, Arg/Pro, Pro/Pro: 0.79, 0.21, 0 vs. 0.87, 0.10, 0.03 (p=0.019). Similarly, haplotypes constructed with the combination of both polymorphisms were different among groups. There were no differences in CRD progression rate among genotypes. Codon 10 Leu allele was associated with the presence of clinical CVD in the ESRD patients (Leu/Leu, Leu/Pro, Pro/Pro: with CVD 0.49, 0.49, 0.02 vs. without CVD 0.27, 0.51, 0.22 (p=0.01). Combined polymorphism haplotypes were also significantly different between ESRD patients with and without CVD. This association was independent from other risk factors.
  
  
  CONCLUSIONS
  TGF-beta1 polymorphisms are associated with ESRD, particularly in patients with associated clinical CVD, and could be useful as genetic markers of CRD and higher cardiovascular risk.
authors.affiliation: Nephrology Service, Hospital Clinic, Faculty of Biology, Faculty of Medicine, University of Barcelona, Spain.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Coll
authors.forename: Bru
authors.initials: B
authors.lastname: Cormand
authors.forename: Begoña
authors.initials: B
authors.lastname: Campos
authors.forename: Daniel
authors.initials: D
authors.lastname: González-Núñez
authors.forename: Pablo
authors.initials: P
authors.lastname: Iñigo
authors.forename: Albert
authors.initials: A
authors.lastname: Botey
authors.forename: Esteban
authors.initials: E
authors.lastname: Poch
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D001120:Arginine; D002908:Chronic Disease; D003062:Codon; D005260:Female; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007676:Kidney Failure, Chronic / Q000235:genetics*; D007930:Leucine; D008137:Longitudinal Studies; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D011392:Proline; D012189:Retrospective Studies; D016212:Transforming Growth Factor beta / Q000235:genetics*; D053773:Transforming Growth Factor beta1
chemical_list: D003062:Codon; C508960:TGFB1 protein, human; D016212:Transforming Growth Factor beta; D053773:Transforming Growth Factor beta1; D001120:Arginine; D011392:Proline; D007930:Leucine