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Variants Identified in the HOXC13 and HOXD13 Genes Suggest Association with Cervical Cancer in a Cohort of Mexican Women

HOX genes have been associated with carcinogenesis. However, the molecular mechanism by which tumors are generated remains unclear. The HOXC13 and HOXD13 genes are of interest for their involvement in the development of genitourinary structures. The aim of this first study in the Mexican population...

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Autores principales: Juárez-Rendón, Karina Janett, Castro-García, Manuel Alejandro, Prada-Ortega, Diddier Giovanni, Rivera, Gildardo, Ruíz-Godoy, Luz María, Enríquez-Cárcamo, Virginia Isabel, Reyes-Lopez, Miguel Angel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957514/
https://www.ncbi.nlm.nih.gov/pubmed/36833285
http://dx.doi.org/10.3390/genes14020358
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author Juárez-Rendón, Karina Janett
Castro-García, Manuel Alejandro
Prada-Ortega, Diddier Giovanni
Rivera, Gildardo
Ruíz-Godoy, Luz María
Enríquez-Cárcamo, Virginia Isabel
Reyes-Lopez, Miguel Angel
author_facet Juárez-Rendón, Karina Janett
Castro-García, Manuel Alejandro
Prada-Ortega, Diddier Giovanni
Rivera, Gildardo
Ruíz-Godoy, Luz María
Enríquez-Cárcamo, Virginia Isabel
Reyes-Lopez, Miguel Angel
author_sort Juárez-Rendón, Karina Janett
collection PubMed
description HOX genes have been associated with carcinogenesis. However, the molecular mechanism by which tumors are generated remains unclear. The HOXC13 and HOXD13 genes are of interest for their involvement in the development of genitourinary structures. The aim of this first study in the Mexican population was to search for and analyze variants in the coding region of the HOXC13 and HOXD13 genes in women with cervical cancer. Samples from Mexican women with cervical cancer and healthy women were sequenced (50/50). Allelic and genotypic frequencies were compared between groups. The functional impact of the proteins was determined with two bioinformatics servers (SIFT and PolyPhen-2), and the oncogenic potential of the identified nonsynonymous variants was determined using the CGI server. We identified five unreported gene variants: c.895C>A p.(Leu299Ile) and c.777C>T p.(Arg259Arg) in the HOXC13 gene and c.128T>A p.(Phe43Tyr), c.204G>A p.(Ala68Ala), and c.267G>A p.(Ser89Ser) in the HOXD13 gene. In this study, we suggest that the non-synonymous variants c.895C>A p.(Leu299Ile) and c.128T>A p.(Phe43Tyr) could represent a risk factor for the development of the disease, although additional studies in larger patient populations and in different ethnic groups are needed in order to support the results observed.
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spelling pubmed-99575142023-02-25 Variants Identified in the HOXC13 and HOXD13 Genes Suggest Association with Cervical Cancer in a Cohort of Mexican Women Juárez-Rendón, Karina Janett Castro-García, Manuel Alejandro Prada-Ortega, Diddier Giovanni Rivera, Gildardo Ruíz-Godoy, Luz María Enríquez-Cárcamo, Virginia Isabel Reyes-Lopez, Miguel Angel Genes (Basel) Article HOX genes have been associated with carcinogenesis. However, the molecular mechanism by which tumors are generated remains unclear. The HOXC13 and HOXD13 genes are of interest for their involvement in the development of genitourinary structures. The aim of this first study in the Mexican population was to search for and analyze variants in the coding region of the HOXC13 and HOXD13 genes in women with cervical cancer. Samples from Mexican women with cervical cancer and healthy women were sequenced (50/50). Allelic and genotypic frequencies were compared between groups. The functional impact of the proteins was determined with two bioinformatics servers (SIFT and PolyPhen-2), and the oncogenic potential of the identified nonsynonymous variants was determined using the CGI server. We identified five unreported gene variants: c.895C>A p.(Leu299Ile) and c.777C>T p.(Arg259Arg) in the HOXC13 gene and c.128T>A p.(Phe43Tyr), c.204G>A p.(Ala68Ala), and c.267G>A p.(Ser89Ser) in the HOXD13 gene. In this study, we suggest that the non-synonymous variants c.895C>A p.(Leu299Ile) and c.128T>A p.(Phe43Tyr) could represent a risk factor for the development of the disease, although additional studies in larger patient populations and in different ethnic groups are needed in order to support the results observed. MDPI 2023-01-30 /pmc/articles/PMC9957514/ /pubmed/36833285 http://dx.doi.org/10.3390/genes14020358 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
Juárez-Rendón, Karina Janett
Castro-García, Manuel Alejandro
Prada-Ortega, Diddier Giovanni
Rivera, Gildardo
Ruíz-Godoy, Luz María
Enríquez-Cárcamo, Virginia Isabel
Reyes-Lopez, Miguel Angel
Variants Identified in the HOXC13 and HOXD13 Genes Suggest Association with Cervical Cancer in a Cohort of Mexican Women
title Variants Identified in the HOXC13 and HOXD13 Genes Suggest Association with Cervical Cancer in a Cohort of Mexican Women
title_full Variants Identified in the HOXC13 and HOXD13 Genes Suggest Association with Cervical Cancer in a Cohort of Mexican Women
title_fullStr Variants Identified in the HOXC13 and HOXD13 Genes Suggest Association with Cervical Cancer in a Cohort of Mexican Women
title_full_unstemmed Variants Identified in the HOXC13 and HOXD13 Genes Suggest Association with Cervical Cancer in a Cohort of Mexican Women
title_short Variants Identified in the HOXC13 and HOXD13 Genes Suggest Association with Cervical Cancer in a Cohort of Mexican Women
title_sort variants identified in the hoxc13 and hoxd13 genes suggest association with cervical cancer in a cohort of mexican women
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957514/
https://www.ncbi.nlm.nih.gov/pubmed/36833285
http://dx.doi.org/10.3390/genes14020358
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