A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12
- Fernández Rozadilla, Ceres
- Cazier, Jean-Baptiste
- Tomlinson, Ian P.
- Carvajal Carmona, Luis G.
- Palles, Claire
- Lamas, María J.
- Baiget, Montserrat
- López Fernández, Luis A.
- Brea Fernández, Alejandro
- Abulí, Anna
- Bujanda Fernández de Pierola, Luis
- Clofent, Juan
- González, Dolors
- Xicola, Rosa
- Andreu, Montserrat
- Bessa, Xavier
- Jover, Rodrigo
- Llor, Xavier
- Moreno, Víctor
- Castells, Antoni
- Carracedo, Angel
- Castellví-Bel, Sergi
- Ruiz Ponte, Clara
- EPICOLON Consortium
DOIAbstract
Background: Colorectal cancer (CRC) is a disease of complex aetiology, with much of the expected inherited risk being due to several common low risk variants. Genome-Wide Association Studies (GWAS) have identified 20 CRC risk variants. Nevertheless, these have only been able to explain part of the missing heritability. Moreover, these signals have only been inspected in populations of Northern European origin. Results: Thus, we followed the same approach in a Spanish cohort of 881 cases and 667 controls. Sixty-four variants at 24 loci were found to be associated with CRC at p-values <10-5. We therefore evaluated the 24 loci in another Spanish replication cohort (1481 cases and 1850 controls). Two of these SNPs, rs12080929 at 1p33 (P-repl...
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