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| Pàgina inicial > Articles > Articles publicats > A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12 |
(Centro de Investigación Biomédica en Red de Enfermedades Raras) (University of Oxford (Oxford, Regne Unit)) (School of Medicine University of California (California, Estats Units d'Amèrica)) (University of Oxford (Oxford, Regne Unit)) (Complejo Hospitalario Universitario de Santiago de Compostela) (Instituto de Investigación Sanitaria Gregorio Marañón (Madrid)) (Centro de Investigación Biomédica en Red de Enfermedades Raras) (Hospital Clínic i Provincial de Barcelona) (Universidad del País Vasco) (Hospital del Mar (Barcelona, Catalunya)) (Hospital del Mar (Barcelona, Catalunya)) (Hospital General Universitario de Alicante (Alacant, Païs Valencià)) (University of Illinois at Chicago (Chicago, Estats Units d'Amèrica)) (Institut d'Investigació Biomèdica de Bellvitge) (Universitat de Barcelona) (Centro de Investigación Biomédica en Red de Enfermedades Raras) (Universitat de Barcelona) (Centro de Investigación Biomédica en Red de Enfermedades Raras)| Data: | 2013 |
| Resum: | 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=0. 042; P=5. 523x10; OR (CI95%)=0. 866(0. 782-0. 959)) and rs11987193 at 8p12 (P=0. 039; P=6. 985x10; 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. © 2013 Fernández-Rozadilla et al. ; licensee BioMed Central Ltd. |
| Ajuts: | Ministerio de Ciencia e Innovación 08/1276 Ministerio de Ciencia e Innovación PS09/02368 Ministerio de Ciencia e Innovación SAF2010-19273 Ministerio de Economía y Competitividad PI12/00056 |
| Drets: | Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.  |
| Llengua: | Anglès |
| Document: | Article ; recerca ; Versió publicada |
| Matèria: | 1p33 ; 8p12 ; Colorectal cancer ; GWAS ; SNPs ; Spanish cohort |
| Publicat a: | BMC genomics, Vol. 14 Núm. 1 (26 2013) , p. 55, ISSN 1471-2164 |
