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Single Nucleotide Polymorphisms in the Wnt and BMP Pathways and Colorectal Cancer Risk in a Spanish Cohort

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Title: Single Nucleotide Polymorphisms in the Wnt and BMP Pathways and Colorectal Cancer Risk in a Spanish Cohort
Author(s): Fernandez-Rozadilla, Ceres; de Castro, Luisa; Clofent, Juan; Brea-Fernandez, Alejandro; Bessa, Xavier; Abuli, Anna; Andreu, Montserrat; Jover, Rodrigo; Xicola, Rosa; Llor, Xavier; Castells, Antoni; Castellvi-Bel, Sergi; Carracedo, Angel; Ruiz-Ponte, Clara
Subject(s): polymorphisms colon cancer
Abstract: Background: Colorectal cancer (CRC) is considered a complex disease, and thus the majority of the genetic susceptibility is thought to lie in the form of low-penetrance variants following a polygenic model of inheritance. Candidate-gene studies have so far been one of the basic approaches taken to identify these susceptibility variants. The consistent involvement of some signaling routes in carcinogenesis provided support for pathway-based studies as a natural strategy to select genes that could potentially harbour new susceptibility loci. Methodology/Principal Findings: We selected two main carcinogenesis-related pathways: Wnt and BMP, in order to screen the implicated genes for new risk variants. We then conducted a case-control association study in 933 CRC cases and 969 controls based on coding and regulatory SNPs. We also included rs4444235 and rs9929218, which did not fulfill our selection criteria but belonged to two genes in the BMP pathway and had consistently been linked to CRC in previous studies. Neither allelic, nor genotypic or haplotypic analyses showed any signs of association between the 37 screened variants and CRC risk. Adjustments for sex and age, and stratified analysis between sporadic and control groups did not yield any positive results either. Conclusions/Significance: Despite the relevance of both pathways in the pathogenesis of the disease, and the fact that this is indeed the first study that considers these pathways as a candidate-gene selection approach, our study does not present any evidence of the presence of low-penetrance variants for the selected markers in any of the considered genes in our cohort.
Issue Date: 2010-09-09
Publisher: Public Library of Science
Citation Info: Fernandez-Rozadilla, C., de Castro, L., Clofent, J., Brea-Fernandez, A., Bessa, X., Abuli, A., Andreu, M., Jover, R., Xicola, R., Llor, X., Castells, A., Castellvi-Bel, S., Carracedo, A., & Ruiz-Ponte, C. 2010. Single Nucleotide Polymorphisms in the Wnt and BMP Pathways and Colorectal Cancer Risk in a Spanish Cohort. PLoS One, 5(9). DOI: 10.1371/journal.pone.0012673.
Type: Article
Description: The original source for this publication is at Public Library of Science; DOI: 10.1371/journal.pone.0012673
ISSN: 1932-6203
Sponsor: This work was supported by grants from the Fondo de Investigacion Sanitaria/FEDER (05/2031, 08/0024, 08/1276, PS09/02368), Xunta de Galicia (PGIDIT07PXIB9101209PR, Ministerio de Ciencia e Innovacion (SAF 07-64873), Asociacion Espanola contra el Cancer (Fundacion Cientifica y Junta de Barcelona), and Fundacion de Investigacion Medica Mutua Madrilena. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
Date Available in INDIGO: 2011-05-11

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