Please use this identifier to cite or link to this item:
Title: Association between CASP8-652 6N del polymorphism (rs3834129) and colorectal cancer risk: results from a multi-centric study
Author: Pardini, Barbara
Verderio, Paolo
Pizzamiglio, Sara
Nici, Carmela
Maiorana, Maria Valeria
Naccarati, Alessio
Vodickova, Ludmila
Vymetalkova, Veronika
Veneroni, Silvia
Daidone, Maria Grazia
Ravagnani, Fernando
Bianchi, Tiziana
Bujanda, Luis
Carracedo, Arkaitz
Castells Garangou, Antoni
Ruiz-Ponte, Clara
Morreau, Hans
Howarth, Kimberley
Jones, Angela
Castellví-Bel, Sergi
Li, Li
Tomlinson, Ian P.
Van Wezel, Tom
Vodicka, Pavel
Radice, Paolo
Peterlongo, Paolo
Keywords: Càncer colorectal
Genètica humana
Polimorfisme genètic
Estudi de casos
Colorectal cancer
Human genetics
Genetic polymorphisms
Case studies
Issue Date: 21-Jan-2014
Publisher: Public Library of Science (PLoS)
Abstract: The common −652 6N del variant in the CASP8 promoter (rs3834129) has been described as a putative low-penetrance risk factor for different cancer types. In particular, some studies suggested that the deleted allele (del) was inversely associated with CRC risk while other analyses failed to confirm this. Hence, to better understand the role of this variant in the risk of developing CRC, we performed a multi-centric case-control study. In the study, the variant −652 6N del was genotyped in a total of 6,733 CRC cases and 7,576 controls recruited by six different centers located in Spain, Italy, USA, England, Czech Republic and the Netherlands collaborating to the international consortium COGENT (COlorectal cancer GENeTics). Our analysis indicated that rs3834129 was not associated with CRC risk in the full data set. However, the del allele was under-represented in one set of cases with a family history of CRC (per allele model OR = 0.79, 95% CI = 0.69-0.90) suggesting this allele might be a protective factor versus familial CRC. Since this multi-centric case-control study was performed on a very large sample size, it provided robust clarification of the effect of rs3834129 on the risk of developing CRC in Caucasians.
Note: Reproducció del document publicat a:
It is part of: PLoS One, 2014, vol. 9, num. 1, p. e85538
Related resource:
ISSN: 1932-6203
Appears in Collections:Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)
Articles publicats en revistes (Medicina)

Files in This Item:
File Description SizeFormat 
644875.pdf148.66 kBAdobe PDFView/Open

This item is licensed under a Creative Commons License Creative Commons