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J Clin Endocrinol Metab. 2014 Apr;99(4):E719-23. doi: 10.1210/jc.2013-3539. Epub 2014 Jan 28.

A polymorphism in the promoter region of the selenoprotein S gene (SEPS1) contributes to Hashimoto's thyroiditis susceptibility.

Author information

1
Faculty of Medicine (L.R.S.), University of Coimbra, 3000-214 Coimbra, Portugal; Institute of Molecular Pathology and Immunology of University of Porto (L.R.S., C.D., A.M., H.P., M.I.A., C.S.M., P.C., M.S-S., P.S.), Faculty of Medicine (H.P., C.S.M., P.C., C.N., D.C., M.S.S., P.S.), and Department of Pathology and Oncology (M.S.S., P.S.), Faculty of Medicine, University of Porto, 4200-465 Porto, Portugal; and Department of Endocrinology (C.E., C.N., D.C.), Hospital of S. João, 4200-319 Porto, Portugal.

Abstract

CONTEXT:

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.

OBJECTIVE:

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).

DESIGN:

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.

SETTING:

The study was conducted in north Portugal, Porto, in the period of 2007-2013.

PATIENTS OR OTHER PARTICIPANTS:

A total of 997 individuals comprising 481 HT patients and 516 unrelated controls were enrolled in the study.

MAIN OUTCOME MEASURES:

Genetic variants were discriminated by real-time PCR using TaqMan single-nucleotide polymorphism genotyping assays.

RESULTS:

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)).

CONCLUSION:

Our findings support the existence of a link between SEPS1 promoter genetic variation and HT risk.

PMID:
24471570
DOI:
10.1210/jc.2013-3539
[Indexed for MEDLINE]

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