title: Arg25Pro (c.915G>C) polymorphism of transforming growth factor β1 gene increases the risk of developing Graves' disease.
abstract: BACKGROUND
  Graves' disease (GD) arises due to complex interactions between genetic and environmental factors. Transforming growth factor β1 (TGFβ1) is required to maintain immune homeostasis, and is implicated in lymphocyte infiltration, thyroid follicular cell hyperplasia, and production of autoantibody in the thyroid gland of patients with GD.
  
  
  OBJECTIVE
  The aim of the present study was to investigate the possible association of Leu10Pro (c.869T>C) and Arg25Pro (c.915G>C) single nucleotide polymorphisms (SNPs) of TGFβ1 gene with the occurrence of GD.
  
  
  METHODS
  We analyzed the genotype and allele frequencies of these SNPs in 171 patients with GD and 197 healthy controls using PCR-restriction fragment length polymorphism (RFLP).
  
  
  RESULTS
  The distribution of Leu10Pro (c.869T>C) genotype and allele frequencies in the control and GD groups were not significantly different. However, there was a significant increase of Arg25Pro (c.915G>C) C allele frequency in patients with GD compared with healthy controls (p<0.0001, OR=4.77, 95% CI=3.32-7.03). In addition, C allele carrying subjects (CG+CC) had 5.31-fold increased risk for developing GD according to GG homozygotes (p<0.0001, 95% CI=3.43-8.44). No association between polymorphisms and GD phenotypes was observed.
  
  
  CONCLUSIONS
  This study indicates that the Arg25Pro (c.915G>C) polymorphism of TGFβ1 gene may be related to occurrence of GD.
authors.affiliation: Istanbul University, Istanbul Faculty of Medicine, Department of Biochemistry, Istanbul, Turkey.
authors.forename: Semra
authors.initials: S
authors.lastname: Doğru-Abbasoğlu
authors.affiliation: Istanbul University, Istanbul Faculty of Medicine, Department of Biochemistry, Istanbul, Turkey. Electronic address: pervinvural@yahoo.com.
authors.forename: Pervin
authors.initials: P
authors.lastname: Vural
authors.affiliation: Istanbul University, Istanbul Faculty of Medicine, Department of Biochemistry, Istanbul, Turkey.
authors.forename: Merve
authors.initials: M
authors.lastname: Baki
authors.affiliation: Şişli Etfal Education and Research Hospital, II. Internal Medicine Clinic, Department of Endocrinology, Şişli, 34387 Istanbul, Turkey.
authors.forename: Ayşenur
authors.initials: A
authors.lastname: Özderya
authors.affiliation: Şişli Etfal Education and Research Hospital, II. Internal Medicine Clinic, Department of Endocrinology, Şişli, 34387 Istanbul, Turkey.
authors.forename: Berrin
authors.initials: B
authors.lastname: Karadağ
authors.affiliation: Istanbul University, Istanbul Faculty of Medicine, Department of Biochemistry, Istanbul, Turkey.
authors.forename: Müjdat
authors.initials: M
authors.lastname: Uysal
mesh_terms: D001323:Autoantibodies / Q000097:blood; D004252:DNA Mutational Analysis; D005787:Gene Frequency; D059647:Gene-Environment Interaction; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006111:Graves Disease / Q000209:etiology / Q000235:genetics*; D006801:Humans; D006965:Hyperplasia / Q000235:genetics; D007108:Immune Tolerance / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D012306:Risk; D013961:Thyroid Gland / Q000473:pathology*; D053773:Transforming Growth Factor beta1 / Q000235:genetics*
chemical_list: D001323:Autoantibodies; D053773:Transforming Growth Factor beta1
keywords: Graves' disease; Polymorphism; Transforming growth factor β1