A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk.

Peter Broderick; Luis Carvajal-Carmona; Alan M Pittman; Emily Webb ORCID logo; Kimberley Howarth; Andrew Rowan; Steven Lubbe; Sarah Spain; Kate Sullivan; Sarah Fielding; +22 more... Emma Jaeger; Jayaram Vijayakrishnan; Zoe Kemp; Maggie Gorman; Ian Chandler; Elli Papaemmanuil; Steven Penegar; Wendy Wood; Gabrielle Sellick; Mobshra Qureshi; Ana Teixeira; Enric Domingo; Ella Barclay; Lynn Martin; Oliver Sieber; CORGI Consortium; David Kerr; Richard Gray; Julian Peto ORCID logo; Jean-Baptiste Cazier; Ian Tomlinson; Richard S Houlston; (2007) A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk. Nature genetics, 39 (11). pp. 1315-1317. ISSN 1061-4036 DOI: 10.1038/ng.2007.18
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To identify risk variants for colorectal cancer (CRC), we conducted a genome-wide association study, genotyping 550,163 tag SNPs in 940 individuals with familial colorectal tumor (627 CRC, 313 advanced adenomas) and 965 controls. We evaluated selected SNPs in three replication sample sets (7,473 cases, 5,984 controls) and identified three SNPs in SMAD7 (involved in TGF-beta and Wnt signaling) associated with CRC. Across the four sample sets, the association between rs4939827 and CRC was highly statistically significant (P(trend) = 1.0 x 10(-12)).

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