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We performed a meta-analysis of five genome-wide association studies to identify common variants influencing colorectal cancer (CRC) risk comprising 8,682 cases and 9,649 controls. Replication analysis was performed in case-control sets totaling 21,096 cases and 19,555 controls. We identified three new CRC risk loci at 6p21 (rs1321311, near CDKN1A; P = 1.14 × 10(-10)), 11q13.4 (rs3824999, intronic to POLD3; P = 3.65 × 10(-10)) and Xp22.2 (rs5934683, near SHROOM2; P = 7.30 × 10(-10)) This brings the number of independent loci associated with CRC risk to 20 and provides further insight into the genetic architecture of inherited susceptibility to CRC.

Original publication




Journal article


Nature genetics

Publication Date





770 - 776


Colon Cancer Genetics Group, Institute of Genetics and Molecular Medicine, University of Edinburgh and Medical Research Council (MRC) Human Genetics Unit, Edinburgh, UK.


Colorectal Tumour Gene Identification (CORGI) Consortium, Swedish Low-Risk Colorectal Cancer Study Group, COIN Collaborative Group, Humans, Colorectal Neoplasms, Genetic Predisposition to Disease, DNA Polymerase III, Membrane Proteins, Case-Control Studies, Cyclin-Dependent Kinase Inhibitor p21, Genetic Variation, Genome-Wide Association Study, Genetic Loci