Authors: Viviana Varela Leonardo Rizzo Sabina Domené Oscar D Bruno Mariana L Tellechea Carina M Rivolta Héctor M Targovnik
Publish Date: 2010/10/23
Volume: 38, Issue: 3, Pages: 320-327
Abstract
Autoimmune thyroid disease AITD is a multifactorial disorder that involves a putative association with thyroid autoantigenspecific and immune regulatory genes as well as environmental factors The thyroglobulin gene is the main identified thyroid autoantigenspecific 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 IndelTGIVS18 and one exonic single nucleotide polymorphism c7589GA 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 IndelTGIVS18 and c7589GA However when we analyzed autoimmune thyroiditis patients with the TGrI29 microsatellite we found a significant association between the 197bp allele and autoimmune thyroiditis 3350 vs 1900 in control group P = 0001 In addition a significant major prevalence of the 197/201bp genotype has been also seen in autoimmune thyroiditis subjects 59 vs 24 in control group P 00001 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 thyroidspecific gene linked to AITD
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