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 rs7975232 and 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 ( = 0.03 or 0.01), codominant ( 0.019 or 0.026) and allelic ( 0.011 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 ( 0.01 and = 0.009, respectively) and with a high T4 level at the beginning of HT disease. However, the gene polymorphism was associated with a low T4 level at the beginning of GD disease. In conclusion, this study indicates that only the variation could be related to AITD and HT susceptibility and that and gene variations constitute factors to prognosticate the severity of AITD, HT and GD.
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http://dx.doi.org/10.2478/bjmg-2020-0011 | DOI Listing |
Metabol Open
March 2025
Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, 1417613151, Tehran, Iran.
Background: Vitamin D receptor (VDR) gene polymorphisms have been implicated in polycystic ovary syndrome (PCOS). Despite VDR gene polymorphisms importance and their risk for PCOS, they have not been extensively studied. The main objective was to evaluate the associations between VDR gene polymorphisms and risk for PCOS.
View Article and Find Full Text PDFAging (Albany NY)
September 2024
Graduate Institute of Medical Sciences, National Defense Medical Center, Taipei 114201, Taiwan, R.O.C.
Background: Previous meta-analyses only examined the association between single or several gene polymorphisms and osteoarthritis (OA), whereas no studies have concluded that there are existing all gene loci that associate with OA.
Objective: To assess whether a definite conclusion of the association between the gene loci and OA can be drawn.
Methods: Decisive gene strategy (DGS), a literature-based approach, was used to search PubMed, Embase, and Cochrane databases for all meta-analyses that associated gene polymorphisms and OA.
Gene
January 2025
Laboratório de Neurociências Translacional, Programa de Pós-Graduação em Neurologia, Universidade Federal do Estado do Rio de Janeiro, Rio de Janeiro, 20211-030, Brazil; Departamento de Neurocirurgia, Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ 3938-2480, Brazil. Electronic address:
Objective: The biological behavior of Cerebral Cavernous Malformation (CCM) is still controversial, lacking a clear-cut signature for a mechanistic explanation of lesion aggressiveness. In this study, we evaluated the predictive capacity of genetic variants concerning the aggressive behavior of CCM and their implications in biological processes.
Methods: We genotyped the variants in VDR, VDR, VDR, PTPN2 and FCGR2A genes using TaqMan Genotyping Assays in a cohort study with 103 patients, 42 of whom had close follow-up visits for 4 years, focusing on 2 main aspects of the disease: (1) symptomatic events, which included both intracranial bleeding or epilepsy, and (2) the onset of symptoms.
Heliyon
April 2024
Universidade Estadual do Rio de Janeiro, Instituto de Biologia Roberto Alcântara Gomes, Departamento de Farmacologia e Psicobiologia, Rio de Janeiro RJ, Brazil.
Over the past few years, there has been a notable increment in scientific literature aimed at unraveling the genetic foundations of vitamin D signaling and its implications for susceptibility to autoimmunity, however, most of them address isolated diseases. Here, we conducted a systematic review of genetic variants related to vitamin D and autoimmune diseases and we discussed the current landscape of susceptibility and outcomes. Of 65 studies analyzed, most variants cited are in vitamin D binding protein (; rs2282679 GC gene), 25-hydroxylase (rs10751657 ), 1α-hydroxylase (rs10877012, ) and the nuclear hormone receptor superfamily [I (rs2228570), I (rs1544410), I (rs7975232), and I (rs731236) in gene].
View Article and Find Full Text PDFBalkan J Med Genet
June 2020
Department of Internal Medicine-Endocrinology, Hospital Fattouma Bourguiba, Monastir, Tunisia.
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 rs7975232 and rs 1801274 variations in the susceptibility and the prognosis of AITD in the Tunisian population.
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