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, Kimberley Howarth, Andrew Rowan, Steven Lubbe, Sarah Spain, Kate Sullivan, Sarah Fielding, Emma Jaeger, Jayaram Vijayakrishnan, Zoe Kemp, Maggie Gorman, Ian Chandler, Elli Papaemmanuil, Steven Penegar, Wendy Wood, Gabrielle Sellick, Mobshra QureshiAna Teixeira, Enric Domingo, Ella Barclay, Lynn Martin, Oliver Sieber, David Kerr, Richard Gray, Julian Peto, Jean Baptiste Cazier, Ian Tomlinson, Richard S. Houlston

Research output: Contribution to journalArticle

399 Scopus citations

Abstract

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-β and Wnt signaling) associated with CRC. Across the four sample sets, the association between rs4939827 and CRC was highly statistically significant (Ptrend = 1.0 × 10-12).

Original languageEnglish (US)
Pages (from-to)1315-1317
Number of pages3
JournalNature Genetics
Volume39
Issue number11
DOIs
StatePublished - Nov 2007
Externally publishedYes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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    Broderick, P., Carvajal-Carmona, L., Pittman, A. M., Webb, E., Howarth, K., Rowan, A., Lubbe, S., Spain, S., Sullivan, K., Fielding, S., Jaeger, E., Vijayakrishnan, J., Kemp, Z., Gorman, M., Chandler, I., Papaemmanuil, E., Penegar, S., Wood, W., Sellick, G., ... Houlston, R. S. (2007). A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk. Nature Genetics, 39(11), 1315-1317. https://doi.org/10.1038/ng.2007.18