<abstract xmlns="http://www.w3.org/1999/xhtml"><p>Hashimoto’s thyroiditis (HT) and Graves’ disease (GD) are autoimmune thyroid diseases (AITD) that cause hypothyroidism and hyperthyroidism, respectively. The vitamin D receptor (VDR) and the Fey receptor IIA (FcγRIIA), are implicated in the etiology of AITD. This study was conducted to examine the implication of <italic>VDR</italic> rs7975232 and <italic>FCGR2A</italic> rs 1801274 variations in the susceptibility and the prognosis of AITD in the Tunisian population. The rs7975232 and rs1801274 (R131H) polymorphisms were analyzed in 162 controls and 162 AITD patients (106 HT and 56 GD) by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and amplification of refractory mutation system-PCR (ARMS-PCR), respectively. No significant difference was demonstrated for the rs7975232 between patients and controls. However, a significant association was shown between the rs1801274 polymorphism and AITD or HT in the dominant (<italic>p</italic> = 0.03 or <italic>p =</italic> 0.01), codominant (<italic>p =</italic> 0.019 or <italic>p =</italic> 0.026) and allelic (<italic>p =</italic> 0.011 <italic>or p =</italic> 0.012) models. The rs7975232 was associated with the absence or the presence of anti-thyroglobulin antibody, with the age of AITD and GD patients during the first diagnosis (<italic>p =</italic> 0.01 and <italic>p</italic> = 0.009, respectively) and with a high T4 level at the beginning of HT disease. However, the <italic>FCGR2A</italic> gene polymorphism was associated with a low T4 level at the beginning of GD disease. In conclusion, this study indicates that only the <italic>FCGR2A</italic> variation could be related to AITD and HT susceptibility and that <italic>VDR</italic> and <italic>FCGR2A</italic> gene variations constitute factors to prognosticate the severity of AITD, HT and GD.</p></abstract>

Hashimoto’s thyroiditis (HT) and Graves’ disease (GD) are autoimmune thyroid diseases (AITD) that cause hypothyroidism and hyperthyroidism, respectively. The vitamin D receptor (VDR) and the Fey receptor IIA (FcγRIIA), are implicated in the etiology of AITD. This study was conducted to examine the implication of VDR rs7975232 and FCGR2A rs 1801274 variations in the susceptibility and the prognosis of AITD in the Tunisian population. The rs7975232 and rs1801274 (R131H) polymorphisms were analyzed in 162 controls and 162 AITD patients (106 HT and 56 GD) by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and amplification of refractory mutation system-PCR (ARMS-PCR), respectively. No significant difference was demonstrated for the rs7975232 between patients and controls. However, a significant association was shown between the rs1801274 polymorphism and AITD or HT in the dominant (p = 0.03 or p = 0.01), codominant (p = 0.019 or p = 0.026) and allelic (p = 0.011 or p = 0.012) models. The rs7975232 was associated with the absence or the presence of anti-thyroglobulin antibody, with the age of AITD and GD patients during the first diagnosis (p = 0.01 and p = 0.009, respectively) and with a high T4 level at the beginning of HT disease. However, the FCGR2A gene polymorphism was associated with a low T4 level at the beginning of GD disease. In conclusion, this study indicates that only the FCGR2A variation could be related to AITD and HT susceptibility and that VDR and FCGR2A gene variations constitute factors to prognosticate the severity of AITD, HT and GD.

Implication of <italic>VDR</italic> rs7975232 and <italic>FCGR2A</italic> rs1801274 gene polymorphisms in the risk and the prognosis of 
autoimmune thyroid diseases in the Tunisian population

Balkan Journal of Medical Genetics

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Implication of  rs7975232 and  rs1801274 gene polymorphisms in the risk and the prognosis of 
autoimmune thyroid diseases in the Tunisian population

Hashimoto’s thyroiditis (HT) and Graves’ disease (GD) are autoimmune thyroid diseases (AITD) that cause hypothyroidism and hyperthyroidism, respectively. The...

Implication of VDR rs7975232 and FCGR2A rs1801274 gene polymorphisms in the risk and the prognosis of autoimmune thyroid diseases in the Tunisian population

Article Category: Original Article

Published Online: Aug 26, 2020

Page range: 69 - 76

DOI: https://doi.org/10.2478/bjmg-2020-0011

Keywords
Anti-thyroglobulin (anti-Tg) antibodies, Autoimmune thyroid diseases (AITD), Fcγ receptor VIA (FcγRIIA), Tetraiodothyroxine, Vitamin D receptor (VDR)

© 2020 Mestiri S, Zaaber I, Nasr I, Marmouch H, published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Implication of VDR rs7975232 and FCGR2A rs1801274 gene polymorphisms in the risk and the prognosis of autoimmune thyroid diseases in the Tunisian population

Article Category: Original Article

Published Online: Aug 26, 2020

Page range: 69 - 76

DOI: https://doi.org/10.2478/bjmg-2020-0011

KeywordsAnti-thyroglobulin (anti-Tg) antibodies, Autoimmune thyroid diseases (AITD), Fcγ receptor VIA (FcγRIIA), Tetraiodothyroxine, Vitamin D receptor (VDR)

© 2020 Mestiri S, Zaaber I, Nasr I, Marmouch H, published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Keywords
Anti-thyroglobulin (anti-Tg) antibodies, Autoimmune thyroid diseases (AITD), Fcγ receptor VIA (FcγRIIA), Tetraiodothyroxine, Vitamin D receptor (VDR)