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

Emma Jaeger; Emily Webb ORCID logo; Kimberley Howarth; Luis Carvajal-Carmona; Andrew Rowan; Peter Broderick; Axel Walther; Sarah Spain; Alan Pittman; Zoe Kemp; +25 more... Kate Sullivan; Karl Heinimann; Steven Lubbe; Enric Domingo; Ella Barclay; Lynn Martin; Maggie Gorman; Ian Chandler; Jayaram Vijayakrishnan; Wendy Wood; Elli Papaemmanuil; Steven Penegar; Mobshra Qureshi; CORGI Consortium; Susan Farrington; Albert Tenesa; Jean-Baptiste Cazier; David Kerr; Richard Gray; Julian Peto ORCID logo; Malcolm Dunlop; Harry Campbell; Huw Thomas; Richard Houlston; Ian Tomlinson; (2008) Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk. Nature genetics, 40 (1). pp. 26-28. ISSN 1061-4036 DOI: 10.1038/ng.2007.41
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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 x 10(-14)).

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