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Single-Nucleotide Polymorphisms in Base-Excision Repair-Related Genes Involved in the Risk of an Occurrence of Non-Alcoholic Fatty Liver Disease

Oxidative stress is one of the pillars crucial in the development of a non-alcoholic fatty liver disease (NAFLD) and may cause DNA damage. Since the main pathway responsible for the repair of oxidative DNA damage is the base-excision repair (BER) pathway, we examined the relationship between the pre...

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Autores principales: Ziółkowska, Sylwia, Kosmalski, Marcin, Kołodziej, Łukasz, Jabłkowska, Aleksandra, Szemraj, Janusz Zbigniew, Pietras, Tadeusz, Jabłkowski, Maciej, Czarny, Piotr Lech
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379279/
https://www.ncbi.nlm.nih.gov/pubmed/37511066
http://dx.doi.org/10.3390/ijms241411307
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author Ziółkowska, Sylwia
Kosmalski, Marcin
Kołodziej, Łukasz
Jabłkowska, Aleksandra
Szemraj, Janusz Zbigniew
Pietras, Tadeusz
Jabłkowski, Maciej
Czarny, Piotr Lech
author_facet Ziółkowska, Sylwia
Kosmalski, Marcin
Kołodziej, Łukasz
Jabłkowska, Aleksandra
Szemraj, Janusz Zbigniew
Pietras, Tadeusz
Jabłkowski, Maciej
Czarny, Piotr Lech
author_sort Ziółkowska, Sylwia
collection PubMed
description Oxidative stress is one of the pillars crucial in the development of a non-alcoholic fatty liver disease (NAFLD) and may cause DNA damage. Since the main pathway responsible for the repair of oxidative DNA damage is the base-excision repair (BER) pathway, we examined the relationship between the presence of different genetic variants of BER-associated genes and the risk of NAFLD. The study evaluates seven single nucleotide polymorphisms (SNPs) within five genes, hOGG1, APEX1, NEIL1, LIG3, LIG1, in 150 NAFLD patients and 340 healthy controls. The genotyping was performed using TaqMan probes and the results were presented as odds ratio with its corresponding 95% confidence interval. The following SNPs were assessed in the study: hOGG1 (rs1052133), APEX1 (rs176094 and rs1130409), NEIL1 (rs4462560), LIG3 (rs1052536), LIG3 (rs4796030), and LIG1 (rs20579). Four of the investigated SNPs, i.e., rs176094, rs1130409, rs4462560 and rs4796030, were found to be associated with NAFLD risk. Furthermore, the occurrence of insulin resistance in patients with steatosis depended on various LIG3 genetic variants. The findings imply the impact of genes involved in BER on NAFLD and fatty liver-related insulin sensitivity.
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spelling pubmed-103792792023-07-29 Single-Nucleotide Polymorphisms in Base-Excision Repair-Related Genes Involved in the Risk of an Occurrence of Non-Alcoholic Fatty Liver Disease Ziółkowska, Sylwia Kosmalski, Marcin Kołodziej, Łukasz Jabłkowska, Aleksandra Szemraj, Janusz Zbigniew Pietras, Tadeusz Jabłkowski, Maciej Czarny, Piotr Lech Int J Mol Sci Article Oxidative stress is one of the pillars crucial in the development of a non-alcoholic fatty liver disease (NAFLD) and may cause DNA damage. Since the main pathway responsible for the repair of oxidative DNA damage is the base-excision repair (BER) pathway, we examined the relationship between the presence of different genetic variants of BER-associated genes and the risk of NAFLD. The study evaluates seven single nucleotide polymorphisms (SNPs) within five genes, hOGG1, APEX1, NEIL1, LIG3, LIG1, in 150 NAFLD patients and 340 healthy controls. The genotyping was performed using TaqMan probes and the results were presented as odds ratio with its corresponding 95% confidence interval. The following SNPs were assessed in the study: hOGG1 (rs1052133), APEX1 (rs176094 and rs1130409), NEIL1 (rs4462560), LIG3 (rs1052536), LIG3 (rs4796030), and LIG1 (rs20579). Four of the investigated SNPs, i.e., rs176094, rs1130409, rs4462560 and rs4796030, were found to be associated with NAFLD risk. Furthermore, the occurrence of insulin resistance in patients with steatosis depended on various LIG3 genetic variants. The findings imply the impact of genes involved in BER on NAFLD and fatty liver-related insulin sensitivity. MDPI 2023-07-11 /pmc/articles/PMC10379279/ /pubmed/37511066 http://dx.doi.org/10.3390/ijms241411307 Text en © 2023 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
Ziółkowska, Sylwia
Kosmalski, Marcin
Kołodziej, Łukasz
Jabłkowska, Aleksandra
Szemraj, Janusz Zbigniew
Pietras, Tadeusz
Jabłkowski, Maciej
Czarny, Piotr Lech
Single-Nucleotide Polymorphisms in Base-Excision Repair-Related Genes Involved in the Risk of an Occurrence of Non-Alcoholic Fatty Liver Disease
title Single-Nucleotide Polymorphisms in Base-Excision Repair-Related Genes Involved in the Risk of an Occurrence of Non-Alcoholic Fatty Liver Disease
title_full Single-Nucleotide Polymorphisms in Base-Excision Repair-Related Genes Involved in the Risk of an Occurrence of Non-Alcoholic Fatty Liver Disease
title_fullStr Single-Nucleotide Polymorphisms in Base-Excision Repair-Related Genes Involved in the Risk of an Occurrence of Non-Alcoholic Fatty Liver Disease
title_full_unstemmed Single-Nucleotide Polymorphisms in Base-Excision Repair-Related Genes Involved in the Risk of an Occurrence of Non-Alcoholic Fatty Liver Disease
title_short Single-Nucleotide Polymorphisms in Base-Excision Repair-Related Genes Involved in the Risk of an Occurrence of Non-Alcoholic Fatty Liver Disease
title_sort single-nucleotide polymorphisms in base-excision repair-related genes involved in the risk of an occurrence of non-alcoholic fatty liver disease
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379279/
https://www.ncbi.nlm.nih.gov/pubmed/37511066
http://dx.doi.org/10.3390/ijms241411307
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