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Title: A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12
Author: Fernández-Rozadilla, Ceres
Cazier, Jean-Baptiste
Tomlinson, Ian P.
Carvajal Carmona, Luis G.
Palles, Claire
Lamas, María J.
Baiget Bastús, Montserrat
López Fernández, Luis A.
Brea Fernández, Alejandro
Abulí, Anna
Bujanda, Luis
Clofent, Juan
Gonzalez, Dolors
Xicola, Rosa
Andreu, Montserrat
Bessa i Caserras, Xavier
Jover, Rodrigo
Llor, Xavier
Moreno Aguado, Víctor
Castells Garangou, Antoni
Carracedo Álvarez, Ángel
Castellví Bel, Sergi
Ruiz-Ponte, Clara
Keywords: Càncer colorectal
Polimorfisme genètic
Colorectal cancer
Genetic polymorphisms
Issue Date: 26-Jan-2013
Publisher: BioMed Central
Abstract: 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 (Preplication=0.042; Ppooled=5.523x10-03; OR (CI95%)=0.866(0.782-0.959)) and rs11987193 at 8p12 (Preplication=0.039; Ppooled=6.985x10-5; OR (CI95%)=0.786(0.705-0.878)) were replicated in the second Phase, although they did not reach genome-wide statistical significance. Conclusions: We have performed the first CRC GWAS in a Southern European population and by these means we were able to identify two new susceptibility variants at 1p33 and 8p12 loci. These two SNPs are located near the SLC5A9 and DUSP4 loci, respectively, which could be good functional candidates for the association signals. We therefore believe that these two markers constitute good candidates for CRC susceptibility loci and should be further evaluated in other larger datasets. Moreover, we highlight that were these two SNPs true susceptibility variants, they would constitute a decrease in the CRC missing heritability fraction.
Note: Reproducció del document publicat a:
It is part of: Bmc Genomics, 2013, vol. 14, num. 55, p. 1-11
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ISSN: 1471-2164
Appears in Collections:Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Articles publicats en revistes (Medicina)

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