Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk

Emma Jaeger, Emily Webb, Kimberley Howarth, Luis Carvajal-Carmona, Andrew Rowan, Peter Broderick, Axel Walther, Sarah Spain, Alan Pittman, Zoe Kemp, Kate Sullivan, Karl Heinimann, Steven Lubbe, Enric Domingo, Ella Barclay, Lynn Martin, Maggie Gorman, Ian Chandler, Jayaram Vijayakrishnan, Wendy WoodElli Papaemmanuil, Steven Penegar, Mobshra Qureshi, Susan Farrington, Albert Tenesa, Jean Baptiste Cazier, David Kerr, Richard Gray, Julian Peto, Malcolm Dunlop, Harry Campbell, Huw Thomas, Richard Houlston, Ian Tomlinson

Research output: Contribution to journalArticle

239 Scopus citations

Abstract

We mapped a high-penetrance gene (CRAC1; also known as HMPS) associated with colorectal cancer (CRC) in the Ashkenazi population to a 0.6-Mb region on chromosome 15 containing SCG5 (also known as SGNE1), GREM1 and FMN1. We hypothesized that the CRAC1 locus harbored low-penetrance variants that increased CRC risk in the general population. In a large series of colorectal cancer cases and controls, SNPs near GREM1 and SCG5 were strongly associated with increased CRC risk (for rs4779584, P = 4.44 × 10-14).

Original languageEnglish (US)
Pages (from-to)26-28
Number of pages3
JournalNature Genetics
Volume40
Issue number1
DOIs
StatePublished - Jan 2008
Externally publishedYes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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    Jaeger, E., Webb, E., Howarth, K., Carvajal-Carmona, L., Rowan, A., Broderick, P., Walther, A., Spain, S., Pittman, A., Kemp, Z., Sullivan, K., Heinimann, K., Lubbe, S., Domingo, E., Barclay, E., Martin, L., Gorman, M., Chandler, I., Vijayakrishnan, J., ... Tomlinson, I. (2008). Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk. Nature Genetics, 40(1), 26-28. https://doi.org/10.1038/ng.2007.41