SEARCHNARRATIVE_REVIEWbiomedical research, nutrition

narrative_review·biomedical research, nutrition, micronutrients, minerals, antioxidants·PMC10855570

Current Understanding of Human Polymorphism in Selenoprotein Genes: A Review of Its Significance as a Risk Biomarker

International Journal of Molecular Sciences · 7 authors, 2 centres

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This narrative review summarizes evidence that genetic variations (polymorphisms) in human selenoprotein genes may compromise protein function and influence disease risk.

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This narrative review synthesizes literature on the role of polymorphisms in human selenoprotein genes as potential risk biomarkers for diseases. The authors describe selenium's biological importance and the consequences of deficiency, referencing studies in human populations and cell models. The review highlights the need for more research, noting that the functional impact of some variants is uncertain due to limited studies and genetic background influences.

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narrative_review

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biomedical research

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ORIGINAL PAPER

PMC10855570

Current Understanding of Human Polymorphism in Selenoprotein Genes: A Review of Its Significance as a Risk Biomarker

International Journal of Molecular Sciences

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ABSTRACT

Abstract Selenium has been proven to influence several biological functions, showing to be an essential micronutrient. The functional studies demonstrated the benefits of a balanced selenium diet and how its deficiency is associated with diverse diseases, especially cancer and viral diseases. Selenium is an antioxidant, protecting the cells from damage, enhancing the immune system response, preventing cardiovascular diseases, and decreasing inflammation. Selenium can be found in its inorganic and organic forms, and its main form in the cells is the selenocysteine incorporated into selenoproteins. Twenty-five selenoproteins are currently known in the human genome: glutathione peroxidases, iodothyronine deiodinases, thioredoxin reductases, selenophosphate synthetase, and other selenoproteins. These proteins lead to the transport of selenium in the tissues, protect against oxidative damage, contribute to the stress of the endoplasmic reticulum, and control inflammation. Due to these functions, there has been growing interest in the influence of polymorphisms in selenoproteins in the last two decades. Selenoproteins’ gene polymorphisms may influence protein structure and selenium concentration in plasma and its absorption and even impact the development and progression of certain diseases. This review aims to elucidate the role of selenoproteins and understand how their gene polymorphisms can influence the balance of physiological conditions. In this polymorphism review, we focused on the PubMed database, with only articles published in English between 2003 and 2023. The keywords used were “selenoprotein” and “polymorphism”. Articles that did not approach the theme subject were excluded. Selenium and selenoproteins still have a long way to go in molecular studies, and several works demonstrated the importance of their polymorphisms as a risk biomarker for some diseases, especially cardiovascular and thyroid diseases, diabetes, and cancer. Keywords: selenium, selenoprotein, biomarker, polymorphism

CITATION EXPORT

Roberto Rodrigues Ferreira, Regina Vieira Carvalho, Laura Lacerda Coelho et al.. Current Understanding of Human Polymorphism in Selenoprotein Genes: A Review of Its Significance as a Risk Biomarker. International Journal of Molecular Sciences. (2024). https://doi.org/10.3390/ijms25031402

AUTHORS

7 · 2 CENTRES

Roberto Rodrigues Ferreira, Regina Vieira Carvalho, Laura Lacerda Coelho, Beatriz Matheus de Souza Gonzaga, Maria da Gloria Bonecini-Almeida, Luciana Ribeiro Garzoni, Tania C Araujo-Jorge

1Laboratory of Innovations in Therapies, Education and Bioproducts, Oswaldo Cruz Institute (LITEB-IOC/Fiocruz), Oswaldo Cruz Foundation (Fiocruz), Avenida Brasil 4365, Manguinhos, Pav. Cardoso Fontes, Sala 64, Rio de Janeiro 21040-360, Brazil; [email protected] (R.V.C.); [email protected] (L.L.C.); [email protected] (B.M.d.S.G.); [email protected] (L.R.G.)
2Laboratory of Immunology and Immunogenetics, Evandro Chagas National Institute of Infectious Diseases, Oswaldo Cruz Foundation, Avenida Brasil 4365, Manguinhos, Rio de Janeiro 21040-360, Brazil; [email protected]