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Genetic Association between TNFA Polymorphisms (rs1799964 and rs361525) and Susceptibility to Cancer in Systemic Sclerosis
Tumor necrosis factor (TNF)-α is a proinflammatory cytokine that plays an important role in the pathogenesis of autoimmune diseases. The aim of the study was to establish an association between TNF-α promoter variability and systemic sclerosis (SSc). The study included 43 SSc patients and 74 control...
Autores principales: | , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9145848/ https://www.ncbi.nlm.nih.gov/pubmed/35629365 http://dx.doi.org/10.3390/life12050698 |
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author | Kosałka-Węgiel, Joanna Lichołai, Sabina Dziedzina, Sylwia Milewski, Mamert Kuszmiersz, Piotr Rams, Anna Gąsior, Jolanta Matyja-Bednarczyk, Aleksandra Kwiatkowska, Helena Korkosz, Mariusz Siwiec, Andżelika Koźlik, Paweł Padjas, Agnieszka Sydor, Wojciech Dropiński, Jerzy Sanak, Marek Musiał, Jacek Bazan-Socha, Stanisława |
author_facet | Kosałka-Węgiel, Joanna Lichołai, Sabina Dziedzina, Sylwia Milewski, Mamert Kuszmiersz, Piotr Rams, Anna Gąsior, Jolanta Matyja-Bednarczyk, Aleksandra Kwiatkowska, Helena Korkosz, Mariusz Siwiec, Andżelika Koźlik, Paweł Padjas, Agnieszka Sydor, Wojciech Dropiński, Jerzy Sanak, Marek Musiał, Jacek Bazan-Socha, Stanisława |
author_sort | Kosałka-Węgiel, Joanna |
collection | PubMed |
description | Tumor necrosis factor (TNF)-α is a proinflammatory cytokine that plays an important role in the pathogenesis of autoimmune diseases. The aim of the study was to establish an association between TNF-α promoter variability and systemic sclerosis (SSc). The study included 43 SSc patients and 74 controls. Four single nucleotide polymorphisms (rs361525, rs1800629, rs1799724, and rs1799964) located at the promoter of the TNFA gene were genotyped using commercially available TaqMan allelic discrimination assays with real-time PCR. The rs1799724 allele was associated with an increased SSc susceptibility (p = 0.028). In turn, none of the polymorphisms studied were related to the clinical and laboratory parameters of SSc patients, except for a higher prevalence of anti-Ro52 antibodies in the AG rs1800629 genotype in comparison to GG carriers (p = 0.04). Three of four cancer patients had both CT rs1799964 and AG rs361525 genotypes; thus, both of them were related to the increased risk of cancer, as compared to the TT (p = 0.03) and GG carriers (p = 0.0003), respectively. The TNFA C rs1799724 variant is associated with an increased risk of SSc, while the CT rs1799964 and AG rs361525 genotypes might enhance cancer susceptibility in SSc patients, although large observational and experimental studies are needed to verify the above hypothesis. |
format | Online Article Text |
id | pubmed-9145848 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-91458482022-05-29 Genetic Association between TNFA Polymorphisms (rs1799964 and rs361525) and Susceptibility to Cancer in Systemic Sclerosis Kosałka-Węgiel, Joanna Lichołai, Sabina Dziedzina, Sylwia Milewski, Mamert Kuszmiersz, Piotr Rams, Anna Gąsior, Jolanta Matyja-Bednarczyk, Aleksandra Kwiatkowska, Helena Korkosz, Mariusz Siwiec, Andżelika Koźlik, Paweł Padjas, Agnieszka Sydor, Wojciech Dropiński, Jerzy Sanak, Marek Musiał, Jacek Bazan-Socha, Stanisława Life (Basel) Article Tumor necrosis factor (TNF)-α is a proinflammatory cytokine that plays an important role in the pathogenesis of autoimmune diseases. The aim of the study was to establish an association between TNF-α promoter variability and systemic sclerosis (SSc). The study included 43 SSc patients and 74 controls. Four single nucleotide polymorphisms (rs361525, rs1800629, rs1799724, and rs1799964) located at the promoter of the TNFA gene were genotyped using commercially available TaqMan allelic discrimination assays with real-time PCR. The rs1799724 allele was associated with an increased SSc susceptibility (p = 0.028). In turn, none of the polymorphisms studied were related to the clinical and laboratory parameters of SSc patients, except for a higher prevalence of anti-Ro52 antibodies in the AG rs1800629 genotype in comparison to GG carriers (p = 0.04). Three of four cancer patients had both CT rs1799964 and AG rs361525 genotypes; thus, both of them were related to the increased risk of cancer, as compared to the TT (p = 0.03) and GG carriers (p = 0.0003), respectively. The TNFA C rs1799724 variant is associated with an increased risk of SSc, while the CT rs1799964 and AG rs361525 genotypes might enhance cancer susceptibility in SSc patients, although large observational and experimental studies are needed to verify the above hypothesis. MDPI 2022-05-07 /pmc/articles/PMC9145848/ /pubmed/35629365 http://dx.doi.org/10.3390/life12050698 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Kosałka-Węgiel, Joanna Lichołai, Sabina Dziedzina, Sylwia Milewski, Mamert Kuszmiersz, Piotr Rams, Anna Gąsior, Jolanta Matyja-Bednarczyk, Aleksandra Kwiatkowska, Helena Korkosz, Mariusz Siwiec, Andżelika Koźlik, Paweł Padjas, Agnieszka Sydor, Wojciech Dropiński, Jerzy Sanak, Marek Musiał, Jacek Bazan-Socha, Stanisława Genetic Association between TNFA Polymorphisms (rs1799964 and rs361525) and Susceptibility to Cancer in Systemic Sclerosis |
title | Genetic Association between TNFA Polymorphisms (rs1799964 and rs361525) and Susceptibility to Cancer in Systemic Sclerosis |
title_full | Genetic Association between TNFA Polymorphisms (rs1799964 and rs361525) and Susceptibility to Cancer in Systemic Sclerosis |
title_fullStr | Genetic Association between TNFA Polymorphisms (rs1799964 and rs361525) and Susceptibility to Cancer in Systemic Sclerosis |
title_full_unstemmed | Genetic Association between TNFA Polymorphisms (rs1799964 and rs361525) and Susceptibility to Cancer in Systemic Sclerosis |
title_short | Genetic Association between TNFA Polymorphisms (rs1799964 and rs361525) and Susceptibility to Cancer in Systemic Sclerosis |
title_sort | genetic association between tnfa polymorphisms (rs1799964 and rs361525) and susceptibility to cancer in systemic sclerosis |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9145848/ https://www.ncbi.nlm.nih.gov/pubmed/35629365 http://dx.doi.org/10.3390/life12050698 |
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