XRCC1 R194W and R399Q Polymorphisms and Colorectal Cancer Risk in a Northeastern Mexican Population

Colorectal cancer (CRC) is one of the most common cancers worldwide. Its etiopathogenesis is complex, mainly influenced by genetic instability caused by the accumulation of mutations. The XRCC1 gene, which is involved in DNA repair, has been associated with CRC through the R194W (C194T) and R399Q (G...

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Main Authors: Juan Pablo Meza-Espinoza, Valeria Peralta-Leal, Jorge Durán-González, Nelly Macías-Gómez, Anabel Bocanegra-Alonso, Evelia Leal-Ugarte
Format: Article
Language:English
Published: Wiley 2023-01-01
Series:Genetics Research
Online Access:http://dx.doi.org/10.1155/2023/5565646
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author Juan Pablo Meza-Espinoza
Valeria Peralta-Leal
Jorge Durán-González
Nelly Macías-Gómez
Anabel Bocanegra-Alonso
Evelia Leal-Ugarte
author_facet Juan Pablo Meza-Espinoza
Valeria Peralta-Leal
Jorge Durán-González
Nelly Macías-Gómez
Anabel Bocanegra-Alonso
Evelia Leal-Ugarte
author_sort Juan Pablo Meza-Espinoza
collection DOAJ
description Colorectal cancer (CRC) is one of the most common cancers worldwide. Its etiopathogenesis is complex, mainly influenced by genetic instability caused by the accumulation of mutations. The XRCC1 gene, which is involved in DNA repair, has been associated with CRC through the R194W (C194T) and R399Q (G399A) polymorphisms, but the results are inconsistent. Here, we analyzed the association of these polymorphisms with sporadic CRC in a northeastern Mexican population, including 155 male CRC patients and 155 male controls. Genotyping was performed using the RFLP method. An association with CRC was found for the 399A allele (G vs A; OR = 1.48 (1.03–2.13), P=0.034) and for the 399AA genotype in a codominant model (AA vs GG; OR = 3.11 (1.06–9.10), P=0.031). In contrast, there were no significant differences between CRC patients and controls for the C194T polymorphism (C vs T; OR = 0.82 (0.52–1.31), P=0.41). These results are consistent with many similar studies, but further research is needed to verify whether the XRCC1 R194W and R399Q polymorphisms play a role in CRC etiology. The functional significance of these polymorphisms is unclear, but some studies suggest that they influence DNA repair capacity and, thus, cancer risk.
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spelling doaj-art-2d973d6bbbd946cf8577be13442f5e1e2025-02-03T06:43:10ZengWileyGenetics Research1469-50732023-01-01202310.1155/2023/5565646XRCC1 R194W and R399Q Polymorphisms and Colorectal Cancer Risk in a Northeastern Mexican PopulationJuan Pablo Meza-Espinoza0Valeria Peralta-Leal1Jorge Durán-González2Nelly Macías-Gómez3Anabel Bocanegra-Alonso4Evelia Leal-Ugarte5Facultad de Medicina e Ingeniería en Sistemas Computacionales de MatamorosFacultad de Medicina e Ingeniería en Sistemas Computacionales de MatamorosFacultad de Medicina e Ingeniería en Sistemas Computacionales de MatamorosCentro Universitario del SurUnidad Académica Multidisciplinaria Reynosa-AztlánFacultad de Medicina e Ingeniería en Sistemas Computacionales de MatamorosColorectal cancer (CRC) is one of the most common cancers worldwide. Its etiopathogenesis is complex, mainly influenced by genetic instability caused by the accumulation of mutations. The XRCC1 gene, which is involved in DNA repair, has been associated with CRC through the R194W (C194T) and R399Q (G399A) polymorphisms, but the results are inconsistent. Here, we analyzed the association of these polymorphisms with sporadic CRC in a northeastern Mexican population, including 155 male CRC patients and 155 male controls. Genotyping was performed using the RFLP method. An association with CRC was found for the 399A allele (G vs A; OR = 1.48 (1.03–2.13), P=0.034) and for the 399AA genotype in a codominant model (AA vs GG; OR = 3.11 (1.06–9.10), P=0.031). In contrast, there were no significant differences between CRC patients and controls for the C194T polymorphism (C vs T; OR = 0.82 (0.52–1.31), P=0.41). These results are consistent with many similar studies, but further research is needed to verify whether the XRCC1 R194W and R399Q polymorphisms play a role in CRC etiology. The functional significance of these polymorphisms is unclear, but some studies suggest that they influence DNA repair capacity and, thus, cancer risk.http://dx.doi.org/10.1155/2023/5565646
spellingShingle Juan Pablo Meza-Espinoza
Valeria Peralta-Leal
Jorge Durán-González
Nelly Macías-Gómez
Anabel Bocanegra-Alonso
Evelia Leal-Ugarte
XRCC1 R194W and R399Q Polymorphisms and Colorectal Cancer Risk in a Northeastern Mexican Population
Genetics Research
title XRCC1 R194W and R399Q Polymorphisms and Colorectal Cancer Risk in a Northeastern Mexican Population
title_full XRCC1 R194W and R399Q Polymorphisms and Colorectal Cancer Risk in a Northeastern Mexican Population
title_fullStr XRCC1 R194W and R399Q Polymorphisms and Colorectal Cancer Risk in a Northeastern Mexican Population
title_full_unstemmed XRCC1 R194W and R399Q Polymorphisms and Colorectal Cancer Risk in a Northeastern Mexican Population
title_short XRCC1 R194W and R399Q Polymorphisms and Colorectal Cancer Risk in a Northeastern Mexican Population
title_sort xrcc1 r194w and r399q polymorphisms and colorectal cancer risk in a northeastern mexican population
url http://dx.doi.org/10.1155/2023/5565646
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