The association between genetic polymorphism of glutathione peroxidase 1
            (rs1050450) and keratoconus in a Turkish population

İlhan, Abdullah; Altun, Salih; Durukan, İrfan; Yolcu, Ümit; Erdem, Üzeyir

doi:10.5935/0004-2749.20190102

Cited by 4 publications

(2 citation statements)

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“…The C/C genotype was associated with protection against the disease [179]. Similar results were found in an Iran cohort [75] and the Turkish population [76]. In the Polish cohort, the T/T genotype was associated with the progression of open-angle glaucoma, and the C/T genotype carriers had an increased risk for the disease [73].…”

Section: Selenoproteins and Their Polymorphismssupporting

confidence: 80%

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

Ferreira,

Carvalho,

Coelho

et al. 2024

IJMS

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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.

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Section: Selenoproteins and Their Polymorphismssupporting

confidence: 80%

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

Ferreira,

Carvalho,

Coelho

et al. 2024

IJMS

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show abstract

“…The inadequate enzymatic antioxidant defense mechanisms in KC patients can be attributed to CAT (rs7943316, A/T) and GPX-1 (rs1050450, C/T) single nucleotide polymorphisms. Patients with the TT genotype of CAT rs7943316 and the T allele of GPX-1 rs1050450 have lower antioxidant enzyme activities and are at higher risk of developing KC [139][140][141]. The decline in serum GSH levels and the imbalance in the systemic thiol-disulfide homeostasis observed in KC patients suggest the presence of oxidative stress and impaired nonenzymatic antioxidant defense [137,142].…”

Section: Serummentioning

confidence: 99%

The Pathomechanism, Antioxidant Biomarkers, and Treatment of Oxidative Stress-Related Eye Diseases

Hsueh

Chen

Tsao

et al. 2022

IJMS

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Oxidative stress is an important pathomechanism found in numerous ocular degenerative diseases. To provide a better understanding of the mechanism and treatment of oxidant/antioxidant imbalance-induced ocular diseases, this article summarizes and provides updates on the relevant research. We review the oxidative damage (e.g., lipid peroxidation, DNA lesions, autophagy, and apoptosis) that occurs in different areas of the eye (e.g., cornea, anterior chamber, lens, retina, and optic nerve). We then introduce the antioxidant mechanisms present in the eye, as well as the ocular diseases that occur as a result of antioxidant imbalances (e.g., keratoconus, cataracts, age-related macular degeneration, and glaucoma), the relevant antioxidant biomarkers, and the potential of predictive diagnostics. Finally, we discuss natural antioxidant therapies for oxidative stress-related ocular diseases.

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Absence of significant genetic alterations in the VSX1, SOD1, TIMP3, and LOX genes in Brazilian patients with Keratoconus

Lopes

Almeida

Miola

et al. 2021

Ophthalmic Genetics

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The association between genetic polymorphism of glutathione peroxidase 1 (rs1050450) and keratoconus in a Turkish population

Cited by 4 publications

References 0 publications

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

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

The Pathomechanism, Antioxidant Biomarkers, and Treatment of Oxidative Stress-Related Eye Diseases

Absence of significant genetic alterations in the VSX1, SOD1, TIMP3, and LOX genes in Brazilian patients with Keratoconus

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