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​ GWAS and ExomeChip

GECCO completed a genome-wide association study (GWAS) consisting of 14 studies (12,696  cases and 15,113 controls of European descent). Genotyped data were imputed to HapMap and later to the 1,000 Genomes Project. As part of our sequencing grant (see Sequencing page), the GWAS data will be imputed using whole genome sequence data from colorectal cases and controls as a reference panel.
A subset of studies were genotyped on the Illumina HumanExome BeadChip (10,446 cases and 10,191 controls) to investigate less-frequent and rare variants. Currently, GECCO is pooling the data and the 1,000 Genomes Project imputed data to compile a data resource for aggregate analyses.
To date, GECCO has replicated previous GWAS findings, discovered one novel locus, and found evidence for three potential novel loci. GECCO has approximately 100 paper proposals, most of which utilize the GWAS and ExomeChip data to investigate additional hypotheses.

Related Information

Please refer to the following paper for information on GECCO’s main GWAS findings:
Peters U, Jiao S, Schumacher FR, et al. Colon Cancer Family Registry and the Genetics and Epidemiology of Colorectal Cancer Consortium. Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. Gastroenterology. 2013 Apr; 144(4):799-807.e24. doi: 10.1053/j.gastro.2012.12.020. Epub 2012 Dec 22.