Journal article
Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13
SL Spain, LG Carvajal-carmona, KM Howarth, AM Jones, Z Su, JB Cazier, J Williams, LA Aaltonen, P Pharoah, DJ Kerr, J Cheadle, L Li, G Casey, P Vodicka, O Sieber, L Lipton, P Gibbs, NG Martin, GW Montgomery, J Young Show all
Human Molecular Genetics | OXFORD UNIV PRESS | Published : 2012
DOI: 10.1093/hmg/ddr523
Abstract
In genome-wide association studies (GWASs) of colorectal cancer, we have identified two genomic regions in which pairs of tagging-single nucleotide polymorphisms (tagSNPs) are associated with disease; these comprise chromosomes 1q41 (rs6691170, rs6687758) and 12q13.13 (rs7163702, rs11169552). We investigated these regions further, aiming to determine whether they contain more than one independent association signal and/or to identify the SNPs most strongly associated with disease. Genotyping of additional sample sets at the original tagSNPs showed that, for both regions, the two tagSNPs were unlikely to identify a single haplotype on which the functional variation lay. Conversely, one of the..
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Awarded by European Commission
Funding Acknowledgements
Funding was primarily provided by Cancer Research UK. The EU FP7 CHIBCHA grant supported LGC-C through funding to IPMT, SC-B and ACar. Core infrastructure support to the Wellcome Trust Centre for Human Genetics, Oxford was provided by grant 090532/Z/09/Z. I. P. M. T. received support from the Oxford NIHR Comprehensive Biomedical Research Centre. The UK National Cancer Research Network supported the NSCCG. Additional funding to M. D. was provided by the Medical Research Council (G0000657-53203), CORE and Scottish Executive Chief Scientist's Office (K/OPR/2/2/D333, CZB/4/449). The EPICOLON work was supported by grants from the Fondo de Investigacion Sanitaria/FEDER (08/0024, 08/1276, PS09/02368), Ministerio de Ciencia e Innovacion (SAF2010-19273), Asociacion Espanola contra el Cancer (Fundacion Cientifica y Junta de Barcelona) and Fundacio Olga Torres (CRP). S.C.-B. and C.F.-R. are supported by contracts from the Fondo de Investigacion Sanitaria (CP03-0070 and PS09/02368). CIBERehd and CIBERER are funded by the Instituto de Salud Carlos III. For the Melbourne cases, work was supported by the Hilton Ludwig Cancer Metastasis Initiative. The specimens and data from Australian colon cancer patients were provided by the Victorian Cancer Biobank and BioGrid Australia with appropriate ethics approval. The Victorian Cancer Biobank is supported by the Victorian Government. CERA receives operational infrastructure support from the Victorian Government. Funding to pay the Open Access publication charges for this article was provided by the Wellcome Trust.