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dc.contributor.authorPicelli, Simone
dc.contributor.authorBermejo, Justo Lorenzo
dc.contributor.authorChang-Claude, Jenny
dc.contributor.authorHoffmeister, Michael
dc.contributor.authorFernández-Rozadilla, Ceres
dc.contributor.authorCarracedo, Angel
dc.contributor.authorCastells, Antoni
dc.contributor.authorCastellví-Bel, Sergi
dc.contributor.authorNaccarati, Alessio
dc.contributor.authorPardini, Barbara
dc.contributor.authorVodickova, Ludmila
dc.contributor.authorMüller, Heiko
dc.contributor.authorTalseth-Palmer, Bente A.
dc.contributor.authorStibbard, Geoffrey
dc.contributor.authorPeterlongo, Paolo
dc.contributor.authorNici, Carmela
dc.contributor.authorVeneroni, Silvia
dc.contributor.authorLi, Li
dc.contributor.authorCasey, Graham
dc.contributor.authorTenesa, Albert
dc.contributor.authorFarrington, Susan M.
dc.contributor.authorTomlinson, Ian
dc.contributor.authorMoreno, Victor
dc.contributor.authorVan Wezel, Tom
dc.contributor.authorWijnen, Juul
dc.contributor.authorDunlop, Malcolm
dc.contributor.authorRadice, Paolo
dc.contributor.authorScott, Rodney J.
dc.contributor.authorVodicka, Pavel
dc.contributor.authorRuiz-Ponte, Clara
dc.contributor.authorBrenner, Hermann
dc.contributor.authorBuch, Stephan
dc.contributor.authorVölzke, Henry
dc.contributor.authorHampe, Jochen
dc.contributor.authorSchafmayer, Clemens
dc.contributor.authorLindblom, Annika
dc.description.abstractIn 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 followup 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.ca_ES
dc.publisherPublic Library of Scienceca_ES
dc.relation.isformatofReproducció del document publicat a
dc.relation.ispartofPLoS One, 2013, vol. 8, núm. 9, e72091ca_ES
dc.rightscc-by, (c) Picelli et al., 2013ca_ES
dc.titleMeta-analysis of mismatch repair polymorphisms within the cogent consortium for colorectal cancer susceptibilityca_ES

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