BACKGROUND: Mutations of the thyrotropin receptor (TSHR) and/or Gαs gene have been found in a number of, but not all, autonomously functioning thyroid nodules (AFTNs). Recently, in a 15-year-old girl with a hyperfunctioning papillary thyroid carcinoma, we found two somatic and germline single nucleotide polymorphisms (SNPs): a SNP of the TSHR gene (exon 7, codon 187) and a SNP of Gαs gene (exon 8, codon 185). The same silent SNP of the TSHR gene had been reported in patients with AFTN or familial non-autoimmune hyperthyroidism. No further data about the prevalence of the two SNPs in AFTNs as well as in the general population are available in the literature. AIM: To clarify the possible role of these SNPs in predisposing to AFTN. METHODS: Germline DNA was extracted from blood leukocytes of 115 patients with AFTNs (43 males and 72 females, aged 31-85 years, mean ± SD = 64 ± 13) and 100 sex-matched healthy individuals from the same geographic area, which is marginally iodine deficient. The genotype distribution of the two SNPs was investigated by restriction fragment length polymorphism-polymerase chain reaction. RESULTS: The prevalence of the two SNPs in our study population was low and not different to that found in healthy individuals: 8 % of patients vs. 9 % of controls were heterozygous for the TSHR SNP and 4 % patients vs. 6 % controls were heterozygous for the Gαs SNP. One patient harbored both SNPs. CONCLUSIONS: These results suggest that these two SNPs do not confer susceptibility for the development of AFTN.
BACKGROUND: Mutations of the thyrotropin receptor (TSHR) and/or Gαs gene have been found in a number of, but not all, autonomously functioning thyroid nodules (AFTNs). Recently, in a 15-year-old girl with a hyperfunctioning papillary thyroid carcinoma, we found two somatic and germline single nucleotide polymorphisms (SNPs): a SNP of the TSHR gene (exon 7, codon 187) and a SNP of Gαs gene (exon 8, codon 185). The same silent SNP of the TSHR gene had been reported in patients with AFTN or familial non-autoimmune hyperthyroidism. No further data about the prevalence of the two SNPs in AFTNs as well as in the general population are available in the literature. AIM: To clarify the possible role of these SNPs in predisposing to AFTN. METHODS: Germline DNA was extracted from blood leukocytes of 115 patients with AFTNs (43 males and 72 females, aged 31-85 years, mean ± SD = 64 ± 13) and 100 sex-matched healthy individuals from the same geographic area, which is marginally iodine deficient. The genotype distribution of the two SNPs was investigated by restriction fragment length polymorphism-polymerase chain reaction. RESULTS: The prevalence of the two SNPs in our study population was low and not different to that found in healthy individuals: 8 % of patients vs. 9 % of controls were heterozygous for the TSHR SNP and 4 % patients vs. 6 % controls were heterozygous for the Gαs SNP. One patient harbored both SNPs. CONCLUSIONS: These results suggest that these two SNPs do not confer susceptibility for the development of AFTN.
Authors: B Trülzsch; K Krohn; P Wonerow; S Chey; H P Holzapfel; F Ackermann; D Führer; R Paschke Journal: J Mol Med (Berl) Date: 2001 Impact factor: 4.599
Authors: T Mühlberg; K Herrmann; W Joba; M Kirchberger; H J Heberling; A E Heufelder Journal: J Clin Endocrinol Metab Date: 2000-08 Impact factor: 5.958
Authors: S Sancak; H Jaeschke; F Eren; O Tarcin; T Ozlem; B Guellueoglu; L S Sen; Z Sever; H I Gozu; R Bircan; S Akalin; R Paschke; M Eszlinger Journal: Horm Metab Res Date: 2011-07-19 Impact factor: 2.936
Authors: F Aghini-Lombardi; L Antonangeli; E Martino; P Vitti; D Maccherini; F Leoli; T Rago; L Grasso; R Valeriano; A Balestrieri; A Pinchera Journal: J Clin Endocrinol Metab Date: 1999-02 Impact factor: 5.958
Authors: Henry Völzke; Jan Lüdemann; Daniel M Robinson; Knut W Spieker; Christian Schwahn; Axel Kramer; Ulrich John; Wieland Meng Journal: Thyroid Date: 2003-08 Impact factor: 6.568