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

IF 1.4 4区生物学 Q4 GENETICS & HEREDITY

Genetics research Pub Date : 2023-10-04 eCollection Date: 2023-01-01 DOI:10.1155/2023/5565646

Juan Pablo Meza-Espinoza, Valeria Peralta-Leal, Jorge Durán-González, Nelly Macías-Gómez, Anabel Bocanegra-Alonso, Evelia Leal-Ugarte

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引用次数: 0

Abstract

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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XRCC1 R194W和R399Q多态性与墨西哥东北部人群结直肠癌癌症风险。

癌症是世界范围内最常见的癌症之一。其发病机制复杂，主要受突变积累引起的遗传不稳定的影响。参与DNA修复的XRCC1基因通过R194W（C194T）和R399Q（G399A）多态性与CRC相关，但结果不一致。在这里，我们分析了这些多态性与墨西哥东北部人群中散发性CRC的相关性，包括155名男性CRC患者和155名男性对照。使用RFLP方法进行基因分型。399A等位基因与CRC相关（G vs A；OR = 1.48（1.03-2.13），P=0.034）和共显性模型中399AA基因型（AA vs GG；OR = 3.11（1.06-9.10），P=0.031）。相反，CRC患者和对照组之间C194T多态性没有显著差异（C与T；OR = 0.82（0.52-1.31），P=0.41）。这些结果与许多类似的研究一致，但还需要进一步的研究来验证XRCC1 R194W和R399Q多态性是否在CRC病因中发挥作用。这些多态性的功能意义尚不清楚，但一些研究表明，它们影响DNA修复能力，从而影响癌症风险。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Genetics research 生物-遗传学

自引率

6.70%

发文量

审稿时长

>12 weeks

期刊介绍： Genetics Research is a key forum for original research on all aspects of human and animal genetics, reporting key findings on genomes, genes, mutations and molecular interactions, extending out to developmental, evolutionary, and population genetics as well as ethical, legal and social aspects. Our aim is to lead to a better understanding of genetic processes in health and disease. The journal focuses on the use of new technologies, such as next generation sequencing together with bioinformatics analysis, to produce increasingly detailed views of how genes function in tissues and how these genes perform, individually or collectively, in normal development and disease aetiology. The journal publishes original work, review articles, short papers, computational studies, and novel methods and techniques in research covering humans and well-established genetic organisms. Key subject areas include medical genetics, genomics, human evolutionary and population genetics, bioinformatics, genetics of complex traits, molecular and developmental genetics, Evo-Devo, quantitative and statistical genetics, behavioural genetics and environmental genetics. The breadth and quality of research make the journal an invaluable resource for medical geneticists, molecular biologists, bioinformaticians and researchers involved in genetic basis of diseases, evolutionary and developmental studies.