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PMID: 20972722 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Association of the TGrI29 microsatellite in thyroglobulin gene with autoimmune thyroiditis in a Argentinian population: a case-control study.

Endocrine ·Vol. 38 ·No. 3 ·2010-12-00 ·Pages 320-7

Varela V, Rizzo L, Domené S, Bruno OD, Tellechea ML, Rivolta CM, Targovnik HM

Abstract

Autoimmune thyroid disease (AITD) is a multifactorial disorder that involves a putative association with thyroid autoantigen-specific and immune regulatory genes, as well as environmental factors. The thyroglobulin gene is the main identified thyroid autoantigen-specific gene associated to autoimmune thyroiditis. The aim of this work was to test for evidence of allelic association between autoimmune thyroiditis (AT) and thyroglobulin polymorphism markers in Argentinian patients. We studied six polymorphisms distributed throughout all the thyroglobulin gene: four microsatellites (Tgms1, Tgms2, TGrI29, and TGrI30), one insertion/deletion polymorphism (IndelTG-IVS18), and one exonic single nucleotide polymorphism (c.7589G>A) in 100 AT patients and 100 healthy control subjects. No differences in allele and genotype frequencies distribution were observed between autoimmune thyroiditis cases and controls for Tgms1, Tgms2, TGrI30, IndelTG-IVS18, and c.7589G>A. However, when we analyzed autoimmune thyroiditis patients with the TGrI29 microsatellite we found a significant association between the 197-bp allele and autoimmune thyroiditis (33.50% vs. 19.00% in control group) (P = 0.001). In addition, a significant major prevalence of the 197/201-bp genotype has been also seen in autoimmune thyroiditis subjects (59% vs. 24% in control group, P < 0.0001). In conclusion, our work showed the association between the thyroglobulin gene and autoimmune thyroiditis in Argentinian population and supports the described evidence of thyroglobulin as a thyroid-specific gene linked to AITD.

MeSH Terms
Adult Argentina Case-Control Studies Female Gene Frequency Genetic Association Studies Genetics, Population Genotype Humans Microsatellite Repeats/genetics Middle Aged Polymorphism, Genetic/physiology Thyroglobulin/genetics Thyroiditis, Autoimmune/genetics
Chemicals
Thyroglobulin
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Varela Viviana
Laboratorio de Biología Molecular, Cátedra de Genética y Biología Molecular, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires, Junín 956, 1113 Buenos Aires, Argentina.
Rizzo Leonardo
Domené Sabina
Bruno Oscar D
Tellechea Mariana L
Rivolta Carina M
Targovnik Héctor M
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Article Info
Journal
Endocrine
Abbr.
Endocrine
ISSN
1559-0100
DOI
10.1007/s12020-010-9398-1
Published
2010-12-00
Epub
2010-00-23
Pages
320-7
Language
English
Region
United States
NLM ID
9434444
Subset
IM
External Links
PubMed source DOI: 10.1007/s12020-010-9398-1 View journal details
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