Meta-Analysis of Mismatch Repair Polymorphisms within the Cogent Consortium for Colorectal Cancer Susceptibility

Picelli, S.; Lucía, P.C.; Ramon, B.; Castells, A.; Antonio, B.; José, M.B.; Mercedes, S.; Antonio, S.; Marc, P.; Estefanía, R.; Vodicka, P.; Juan, C.; Carracedo, A.; Fernando, F.B.; Cristina, A.; David, N.; Juan, D.M.; Mercè, R.; Dolors, G.; Gemma, N.; Artemio, P.; Lidia, A.; Elisabeth, H.; Eduardo, S.; Maria, P.; Eduard, B.A.; Elisa, O.; Cristina, Á.; Virgínia, P.; Talseth Palmer, B.A.; Akiko, O.; Mercedes, L.; Eva, R.; Pilar, C.; Felipe, B.; Josep, M.V.; María Dolores, G.; Anna, R.; Gloria, C.; Josep, M.R.; Montserrat, A.; de Ma, L.C.; Daniel, M.; Sergi, C.B.; Peterlongo, P.; van Wezel, T.; Wijnen, J.; Buch, S.; Ana, M.G.; Hampe, J.; Hoffmeister, M.; Marta, M.; Scott, R.J.; Chang Claude, J.; Francisco, C.; Anna, S.; Lourdes, P.; Elena, P.; Ángel, C.; Elisenda, P.; Antonio, M.; Laura, S.; Jaime, C.; Montserrat, F.; Teresa, S.; Lanas, A.; Vicente, P.; Jaime, S.; Joaquim, R.; Jose, L.C.; Virginia, P.; Mar, I.; Josefina, A.; Tenesa, A.; Fernando, C.; Federico, B.; Josep, M.P.; Radice, P.; Enrique, M.; Susana, O.; Müller, H.; Alcedo, J.; Antonio, N.; José, A.G.; Ortego, F.J.; Jorge, E.; Francisco, Q.; Guadalupe, L.; Juan, B.; Anna, A.; Rodrigo, J.; Carmen, P.; Joan, S.; Vodickova, L.; Carolina, I.; Ma, S.D.; Marisa, M.; Ángel, S.; Victoria, G.; María, d.M.R.; Xavier, B.; Fernández Rozadilla, C.; Dunlop, M.; Rosa, M.X.; Miriam, C.; Nuria, A.; Vicent, H.; Schafmayer, C.; Balaguer, F.; Castellví Bel, S.; Tomlinson, I.; Eloy, S.; Ceres, F.R.; Luis, C.; Xavier, L.; Raquel, M.; Moreno, V.; Agustín, S.; Jose, L.E.; Brenner, H.; Adolfo, P.; José, M.H.; Leticia, M.; Mariano, V.; Teresa, R.; Farrington, S.M.; Ruiz Ponte, C.; Pardini, B.; Marta, P.; Joan, V.; Juan, J.S.; Luis, B.; Lindblom, A.; Anna, G.; Enrique, Q.; Luis, R.; Lorenzo Bermejo, J.; Stibbard, G.; Völzke, H.; De Josep, M.; Javier, F.; Clara, R.P.; Miguel, M.; Carlos, P.; Mikel, L.; Veneroni, S.; Maria, E.; Teresa, O.; Ma, M.C.; Li, L.; Sabino, R.; Nici, C.; Casey, G.; Miquel, A.G.; Eugenia, S.; Alberto, I.; Naccarati, A.; Antoni, T.; Antoni, C.; Beatriz, B.; Inés, G.; Fernando, G.; Jose, M.E.N.; Jose, D.; Joaquin, C.

doi:10.1371/journal.pone.0072091

Resumen: 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.
Idioma: Inglés
DOI: 10.1371/journal.pone.0072091
Año: 2013
Publicado en: PLoS One 8, 9 (2013), e72091 [6 pp]
ISSN: 1932-6203
Factor impacto JCR: 3.534 (2013)
Categ. JCR: MULTIDISCIPLINARY SCIENCES rank: 8 / 56 = 0.143 (2013) - Q1 - T1
Financiación: info:eu-repo/grantAgreement/ES/FIS/CP-03-0070
Financiación: info:eu-repo/grantAgreement/ES/FIS FEDER/PS09-02368
Financiación: info:eu-repo/grantAgreement/ES/FIS FEDER/08-0024
Financiación: info:eu-repo/grantAgreement/ES/FIS FEDER/08-1276
Financiación: info:eu-repo/grantAgreement/ES/FIS FEDER/11-00219
Financiación: info:eu-repo/grantAgreement/ES/FIS FEDER/11-00681
Financiación: info:eu-repo/grantAgreement/ES/FIS/PI08-1635
Financiación: info:eu-repo/grantAgreement/ES/FIS/PS09-1037
Financiación: info:eu-repo/grantAgreement/ES/MICINN/SAF2010-19273
Tipo y forma: Article (Published version)
Área (Departamento): Medicina (Departamento de Medicina, Psiquiatría y Dermatología)
Área (Departamento): Anatomía Patológica (Departamento de Anatomía Patológica, Medicina Legal y Forense y Toxicología)

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Meta-Analysis of Mismatch Repair Polymorphisms within the Cogent Consortium for Colorectal Cancer Susceptibility