Arg25Pro (c.915G>C) polymorphism of transforming growth factor β1 gene suggests an association with increased risk for Hashimoto's thyroiditis

• Published in: International immunopharmacology Vol. 28; no. 1; pp. 521 - 524
• Main Authors: Vural, Pervin, Değirmencioğlu, Sevgin, Doğru-Abbasoğlu, Semra, Baki, Merve, Özderya, Ayşenur, Karadağ, Berrin, Uysal, Müjdat
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01.09.2015
• Subjects: Adolescent; Adult; Aged; Arg 25 Pro; Autoimmune; Female; Gene Frequency; Gene-Environment Interaction; Genetic Predisposition to Disease; Genotype; Hashimoto Disease - blood; Hashimoto Disease - genetics; Hashimoto's thyroiditis; Humans; Leu10 Pro; Male; Middle Aged; Polymorphism; Polymorphism, Single Nucleotide; Risk; Thyroid Hormones - blood; Transforming Growth Factor beta1 - genetics; Transforming growth factor β1; Young Adult; Anti-TPO; TNFα; Anti-Tg; OR; VCAM1; CI; Treg; TSH; HT; IL-1β; ICAM1; Hashimoto's thyroiditis; UTR; TGFβ1; Arg 25 Pro; HWE; SNPs; Autoimmune; Leu10 Pro; Transforming growth factor β1; GD; Polymorphism
• ISSN: 1567-5769; 1878-1705; 1878-1705
• DOI: 10.1016/j.intimp.2015.07.019

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. 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. 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). 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). This study indicates that the Arg25Pro (c.915G>C) polymorphism of TGFβ1 gene may be related to increased risk for HT. •This study examined the possible association of TGFβ1 gene and HT.•Leu10Pro (c.869T>C) and Arg25Pro (c.915G>C) polymorphisms were assayed by RFLP-PCR.•No significant association between HT and variant allele of Leu10Pro was observed.•There was a significant increase of Arg25Pro C allele frequency in patients with HT.•Arg25Pro SNP may be related with increased susceptibility to HT.