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Endocrine
Published in: Endocrine 3/2010

01-06-2010 | Original Article

Analysis of thyroglobulin gene polymorphisms in patients with autoimmune thyroiditis

Authors: Mariela Caputo, Carina M. Rivolta, Teresa Mories, Juan J. Corrales, Purificación Galindo, Rogelio González-Sarmiento, Héctor M. Targovnik, José M. Miralles-García

Published in: Endocrine | Issue 3/2010

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Abstract

The autoimmune thyroid disease is a complex disorder caused by a combination of genetic susceptibility and environmental factors, which are believed to initiate the autoimmune response to thyroid antigens. Identification of the susceptibility genes has found that unique and diverse genetic factors are in association with Graves’ disease and autoimmune thyroiditis. The thyroglobulin gene is an identified thyroid-specific gene associated to autoimmune thyroid disease and, principally, with autoimmune thyroiditis. The aim of this work was to test for evidence of allelic association between autoimmune thyroiditis and thyroglobulin polymorphism markers. We studied six polymorphisms distributed throughout all the thyroglobulin gene: four microsatellites (Tgms1, Tgms2, TGrI29 and TGrI30), one insertion/deletion (Indel) polymorphism (IndelTG-IVS18) and one exonic single nucleotide polymorphism (SNP) (c.7589G>A) in 122 patients with autoimmune thyroiditis compared with 100 non-related normal subjects. No differences in allele and genotype distribution were observed between autoimmune thyroiditis cases and controls for Tgms1, Tgms2, TGrI30, IndelTG-IVS18 and c.7589G>A. However, when we analyzed the patients with the TGrI29 microsatellite we found a significant association between the 199-bp allele and AT (33.7% vs. 24.5% in control group) (P = 0.0372). In addition, a higher prevalence of the 201-bp allele has been observed in control subjects (47.5% vs. 38.1% in patients group), although not statistically significant (P = 0.0536). Our work shows the association between the thyroglobulin gene and autoimmune thyroiditis and reinforce that thyroglobulin is a thyroid-specific susceptibility gene for this disease.
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Metadata
Title
Analysis of thyroglobulin gene polymorphisms in patients with autoimmune thyroiditis
Authors
Mariela Caputo
Carina M. Rivolta
Teresa Mories
Juan J. Corrales
Purificación Galindo
Rogelio González-Sarmiento
Héctor M. Targovnik
José M. Miralles-García
Publication date
01-06-2010
Publisher
Springer US
Published in
Endocrine / Issue 3/2010
Print ISSN: 1355-008X
Electronic ISSN: 1559-0100
DOI
https://doi.org/10.1007/s12020-010-9317-5

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