ECE2017 Eposter Presentations: Thyroid Thyroid (non-cancer) (260 abstracts)
Genetic variation in NFE2L2 and SEPS1S associated with increased risk of Hashimoto’s thyroiditis
Liliana R Santos 1, , Cecila Durães 1, , Ana Pestana 1, , César Esteves 4 , Celestino Neves 3, , David Carvalho 3, , Manuel Sobrinho Simões 1, & Paula Soares 1,
1Institute of Molecular Pathology and Immunology of University of Porto (IPATIMUP), Porto, Portugal; 2Internal Medicine Department, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisboa, Portugal; 3Faculty of Medicine of the University of Porto, Porto, Portugal; 4Department of Endocrinology, Hospital of S. João, Porto, Portugal.
Hashimoto’s thyroiditis (HT) is the most common chronic autoimmune thyroid disease, which is characterized by alteration of the thyroid function. HT is a multifactorial disorder and several candidate genetic loci have been identified as contributing to HT. The transcription factor Nrf2, encoded by the NFE2L2 gene, is an important regulator of the cellular protection against oxidative stress. The relevance of selenoproteins in follicular thyroid cell physiology and in molecular physiology have pointed to a putative role of the interaction of Nrf2 with selenoproteins in the pathogenesis of autoimmune thyroid diseases. In order to evaluate the role of a promoter variation in NRF2 and SEPS1 in the risk for developing Hashimoto’s thyroiditis (HT), we performed a case-control study comprising 997 individuals (HT patients and unrelated controls). Genetic variants were discriminated by real-time PCR using TaqMan SNP genotyping assays. Three polymorphisms (– 653A/G: rs35652124; – 651G/A: rs6706649 and – 617C/A: rs6721961 SNPs) in the NRF2 gene promoter were studied and no significant difference were found between HT patients and controls with regard to genotypic or allelic frequencies of the three NFE2L2 SNPs (P>0.05). The joint effect of genetic polymorphisms in NFE2L2 and SEPS1 was assessed considering the high-risk genotypes of NF2L2 and SEPS1. Our findings suggest that the risk to develop Hashimoto’s thyroiditis is not associate to a single NFE2L2 polymorphisms but increases with the combined effect of the number of risk alleles in NFE2L2 and SEPS1. Individuals carrying two high-risk genotypes present a significant increased risk for HT.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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