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Recent genome-wide association studies (GWASs) have identified common variants at 16 autosomal regions influencing the risk of developing colorectal cancer (CRC). To decipher the genetic basis of the association signals at these loci, we performed a meta-analysis of data from five GWASs, totalling 5626 cases and 7817 controls, using imputation to recover un-typed genotypes. To enhance our ability to discover low-frequency risk variants, in addition to using 1000 Genomes Project data as a reference panel, we made use of high-coverage sequencing data on 253 individuals, 199 with early-onset familial CRC. For 13 of the regions, it was possible to refine the association signal identifying a smaller region of interest likely to harbour the functional variant. Our analysis did not provide evidence that any of the associations at the 16 loci being a consequence of synthetic associations rather than linkage disequilibrium with a common risk variant.

Original publication




Journal article


Human molecular genetics

Publication Date





5075 - 5082


Molecular and Population Genetics, Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK.


Humans, Colorectal Neoplasms, Genetic Predisposition to Disease, Case-Control Studies, Chromosome Mapping, Gene Frequency, Genotype, Penetrance, Polymorphism, Single Nucleotide, Alleles, Adult, Aged, Middle Aged, Genome-Wide Association Study, Genetic Loci