RT Journal Article
T1 Single Nucleotide Polymorphisms in the Wnt and BMP Pathways and Colorectal Cancer Risk in a Spanish Cohort
A1 Fernández Rozadilla, Ceres
A1 Castro, Luisa de
A1 Clofent, Juan
A1 Brea Fernández, Alejandro José
A1 Bessa, Xavier
A1 Abulı, Anna
A1 Andreu, Montserrat
A1 Jover, Rodrigo
A1 Xicola, Rosa
A1 Llor, Xavier
A1 Castells, Antoni
A1 Castellví Bel, Sergi
A1 Carracedo Álvarez, Ángel
A1 Ruiz Ponte, Clara
AB Background: Colorectal cancer (CRC) is considered a complex disease, and thus the majority of the genetic susceptibility isthought to lie in the form of low-penetrance variants following a polygenic model of inheritance. Candidate-gene studieshave so far been one of the basic approaches taken to identify these susceptibility variants. The consistent involvement ofsome signaling routes in carcinogenesis provided support for pathway-based studies as a natural strategy to select genesthat could potentially harbour new susceptibility loci.Methodology/Principal Findings: We selected two main carcinogenesis-related pathways: Wnt and BMP, in order to screenthe implicated genes for new risk variants. We then conducted a case-control association study in 933 CRC cases and 969controls based on coding and regulatory SNPs. We also included rs4444235 and rs9929218, which did not fulfill ourselection criteria but belonged to two genes in the BMP pathway and had consistently been linked to CRC in previousstudies. Neither allelic, nor genotypic or haplotypic analyses showed any signs of association between the 37 screenedvariants and CRC risk. Adjustments for sex and age, and stratified analysis between sporadic and control groups did notyield any positive results either.Conclusions/Significance: Despite the relevance of both pathways in the pathogenesis of the disease, and the fact that thisis indeed the first study that considers these pathways as a candidate-gene selection approach, our study does not presentany evidence of the presence of low-penetrance variants for the selected markers in any of the considered genes in ourcohort.
PB Plos
YR 2010
FD 2010
LK http://hdl.handle.net/10347/22897
UL http://hdl.handle.net/10347/22897
LA eng
NO Fernández-Rozadilla C, de Castro L, Clofent J, Brea-Fernández A, Bessa X, Abulí A, et al. (2010) Single Nucleotide Polymorphisms in the Wnt and BMP Pathways and Colorectal Cancer Risk in a Spanish Cohort. PLoS ONE 5(9): e12673. https://doi.org/10.1371/journal.pone.0012673
NO 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
DS Minerva
RD 22 abr 2026