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Liliana R. Santos, Cecília Durães, Adélia Mendes, Hugo Prazeres, Maria Inês Alvelos, Carla Susete Moreira, Paulo Canedo, César Esteves, Celestino Neves, Davide Carvalho, Manuel Sobrinho-Simões, Paula Soares, A Polymorphism in the Promoter Region of the Selenoprotein S Gene (SEPS1) Contributes to Hashimoto's Thyroiditis Susceptibility, The Journal of Clinical Endocrinology & Metabolism, Volume 99, Issue 4, 1 April 2014, Pages E719–E723, https://doi.org/10.1210/jc.2013-3539
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The association between selenium and inflammation and the relevance of selenoproteins in follicular thyroid cell physiology have pointed to a putative role of selenoproteins in the pathogenesis of autoimmune thyroid diseases.
The aim of this study was to evaluate the role of a promoter variation in SEPS1, the selenoprotein S gene, in the risk for developing Hashimoto's thyroiditis (HT).
A case-control study was performed to assess the association of genetic variation in the SEPS1 gene (SEPS1 −105G/A single-nucleotide polymorphism, rs28665122) and HT.
The study was conducted in north Portugal, Porto, in the period of 2007–2013.
A total of 997 individuals comprising 481 HT patients and 516 unrelated controls were enrolled in the study.
Genetic variants were discriminated by real-time PCR using TaqMan single-nucleotide polymorphism genotyping assays.
There is a significant association between the SEPS1 −105 GA and AA genotypes and HT [odds ratio (OR) 2.24, confidence interval (CI) 1.67–3.02, P < 5.0 × 10−7, and OR 2.08, CI 1.09–3.97, P = .0268, respectively]. The A allele carriers are in higher proportion in the patient group than in the control population (46.2% vs 28.1%, P < 5.0 × 10−7) with an OR (CI) of 2.22 (1.67–2.97). The proportion of patients carrying the A allele is significantly higher in male patients with HT, representing a 3.94 times increased risk (P = 7.9 × 10−3).
Our findings support the existence of a link between SEPS1 promoter genetic variation and HT risk.