title: Arg25Pro (c.915G>C) polymorphism of transforming growth factor β1 gene suggests an association with increased risk for Hashimoto's thyroiditis.
abstract: BACKGROUND
  The etiopathogenesis of Hashimoto's thyroiditis (HT) - has not been clearly elucidated although the role of chronic inflammation, endothelial dysfunction, and imbalance between pro- and anti-inflammatory cytokines has been established. Transforming growth factor β1 (TGFβ1) is required to maintain immune homeostasis, and is implicated in lymphocyte infiltration, production of autoantibodies and thyrocyte destruction seen in patients with HT.
  
  
  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 HT.
  
  
  METHODS
  We analyzed the genotype and allele frequencies of polymorphisms at codon 10 and 25 in 178 patients who had been diagnosed as having HT and 197 healthy controls using PCR-restriction fragment length polymorphism (RFLP).
  
  
  RESULTS
  There was no notable risk for HT afflicted by Leu10Pro (c.869T>C) polymorphism of TGFβ1 gene. However, there was a significant increase of Arg25Pro (c.915G>C) C allele frequency in patients with HT compared with healthy controls (p=0.003, OR=1.87, 95% CI=1.23-2.84). Moreover, heterozygous (CG) subjects had a 2.53-fold increased risk for developing HT with respect to wild (GG) homozygotes (p<0.001, 95% CI=1.57-4.05). TSH levels in CG heterozygous patients were increased in comparison with wild homozygotes (p=0.006).
  
  
  CONCLUSIONS
  This study indicates that the Arg25Pro (c.915G>C) polymorphism of TGFβ1 gene may be related to increased risk for HT.
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: Sevgin
authors.initials: S
authors.lastname: Değirmencioğlu
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.
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: D000293:Adolescent; D000328:Adult; D000368:Aged; D005260:Female; D005787:Gene Frequency; D059647:Gene-Environment Interaction; D020022:Genetic Predisposition to Disease; D005838:Genotype; D050031:Hashimoto Disease / Q000097:blood / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012306:Risk; D013963:Thyroid Hormones / Q000097:blood; D053773:Transforming Growth Factor beta1 / Q000235:genetics*; D055815:Young Adult
chemical_list: D013963:Thyroid Hormones; D053773:Transforming Growth Factor beta1
keywords: Arg 25 Pro; Autoimmune; Hashimoto's thyroiditis; Leu10 Pro; Polymorphism; Transforming growth factor β1