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Title: Meta-analysis of mismatch repair polymorphisms within the cogent consortium for colorectal cancer susceptibility
Author: Picelli, Simone
Lorenzo, Bermejo J.
Chang-Claude, Jenny
Hoffmeister, Michael
Fernández-Rozadilla, Ceres
Carracedo Álvarez, Ángel
Castells Garangou, Antoni
Castellví Bel, Sergi
Naccarati, Alessio
Pardini, Barbara
Vodickova, Ludmila
Müller, Heiko
Talseth-Palmer, Bente A.
Stibbard, Geoffrey
Peterlongo, Paolo
Nici, Carmela
Veneroni, Silvia
Li, Li
Casey, Graham
Tenesa, Albert
Farrington, Susan M.
Tomlinson, Ian P.
Moreno Aguado, Víctor
Van Wezel, Tom
Wijnen, J. T.
Dunlop, Malcolm
Radice, Paolo
Scott, Rodney J.
Vodicka, Pavel
Ruiz-Ponte, Clara
Brenner, Hermann
Buch, Stephan
Völzke, Henry
Hampe, Jochen
Schafmayer, Clemens
Lindblom, Annika
Keywords: Càncer colorectal
Polimorfisme genètic
Reparació de l'ADN
Colorectal cancer
Genetic polymorphisms
DNA repair
Issue Date: 2013
Publisher: Public Library of Science (PLoS)
Abstract: In the last four years, Genome-Wide Association Studies (GWAS) have identified sixteen low-penetrance polymorphisms on fourteen different loci associated with colorectal cancer (CRC). Due to the low risks conferred by known common variants, most of the 35% broad-sense heritability estimated by twin studies remains unexplained. Recently our group performed a case-control study for eight Single Nucleotide Polymorphisms (SNPs) in 4 CRC genes. The present investigation is a follow-up of that study. We have genotyped six SNPs that showed a positive association and carried out a meta-analysis based on eight additional studies comprising in total more than 8000 cases and 6000 controls. The estimated recessive odds ratio for one of the SNPs, rs3219489 (MUTYH Q338H), decreased from 1.52 in the original Swedish study, to 1.18 in the Swedish replication, and to 1.08 in the initial meta-analysis. Since the corresponding summary probability value was 0.06, we decided to retrieve additional information for this polymorphism. The incorporation of six further studies resulted in around 13000 cases and 13000 controls. The newly updated OR was 1.03. The results from the present large, multicenter study illustrate the possibility of decreasing effect sizes with increasing samples sizes. Phenotypic heterogeneity, differential environmental exposures, and population specific linkage disequilibrium patterns may explain the observed difference of genetic effects between Sweden and the other investigated cohorts.
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It is part of: PLoS One, 2013, vol. 8, num. 9, p. e72091
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ISSN: 1932-6203
Appears in Collections:Articles publicats en revistes (Medicina)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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