Lack of association between autonomously functioning thyroid nodules and germline polymorphisms of the thyrotropin receptor and Gαs genes in a mild to moderate iodine-deficient Caucasian population.
J Endocrinol Invest
; 37(7): 625-30, 2014 Jul.
Article
em En
| MEDLINE
| ID: mdl-24789540
ABSTRACT
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.
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Polimorfismo Genético
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Receptores da Tireotropina
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Nódulo da Glândula Tireoide
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Mutação em Linhagem Germinativa
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Subunidades alfa Gs de Proteínas de Ligação ao GTP
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Iodo
Tipo de estudo:
Risk_factors_studies
Limite:
Adolescent
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Adult
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Aged
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Aged80
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
J Endocrinol Invest
Ano de publicação:
2014
Tipo de documento:
Article
País de afiliação:
Itália