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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.

Citation

Malcolm G Dunlop, Sara E Dobbins, Susan Mary Farrington, Angela M Jones, Claire Palles, Nicola Whiffin, Albert Tenesa, Sarah Spain, Peter Broderick, Li-Yin Ooi, Enric Domingo, Claire Smillie, Marc Henrion, Matthew Frampton, Lynn Martin, Graeme Grimes, Maggie Gorman, Colin Semple, Yusanne P Ma, Ella Barclay, James Prendergast, Jean-Baptiste Cazier, Bianca Olver, Steven Penegar, Steven Lubbe, Ian Chander, Luis G Carvajal-Carmona, Stephane Ballereau, Amy Lloyd, Jayaram Vijayakrishnan, Lina Zgaga, Igor Rudan, Evropi Theodoratou, Colorectal Tumour Gene Identification (CORGI) Consortium, John M Starr, Ian Deary, Iva Kirac, Dujo Kovacević, Lauri A Aaltonen, Laura Renkonen-Sinisalo, Jukka-Pekka Mecklin, Koichi Matsuda, Yusuke Nakamura, Yukinori Okada, Steven Gallinger, David J Duggan, David Conti, Polly Newcomb, John Hopper, Mark A Jenkins, Fredrick Schumacher, Graham Casey, Douglas Easton, Mitul Shah, Paul Pharoah, Annika Lindblom, Tao Liu, Swedish Low-Risk Colorectal Cancer Study Group, Christopher G Smith, Hannah West, Jeremy P Cheadle, COIN Collaborative Group, Rachel Midgley, David J Kerr, Harry Campbell, Ian P Tomlinson, Richard S Houlston. Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk. Nature genetics. 2012 May 27;44(7):770-6

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PMID: 22634755

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