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Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk.

TitleCommon variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk.
Publication TypeJournal Article
Year of Publication2012
AuthorsDunlop, MG, Dobbins, SE, Farrington, SMary, Jones, AM, Palles, C, Whiffin, N, Tenesa, A, Spain, S, Broderick, P, Ooi, L-Y, Domingo, E, Smillie, C, Henrion, M, Frampton, M, Martin, L, Grimes, G, Gorman, M, Semple, C, Ma, YP, Barclay, E, Prendergast, J, Cazier, J-B, Olver, B, Penegar, S, Lubbe, S, Chander, I, Carvajal-Carmona, LG, Ballereau, S, Lloyd, A, Vijayakrishnan, J, Zgaga, L, Rudan, I, Theodoratou, E, Starr, JM, Deary, I, Kirac, I, Kovacević, D, Aaltonen, LA, Renkonen-Sinisalo, L, Mecklin, J-P, Matsuda, K, Nakamura, Y, Okada, Y, Gallinger, S, Duggan, DJ, Conti, D, Newcomb, P, Hopper, J, Jenkins, MA, Schumacher, F, Casey, G, Easton, D, Shah, M, Pharoah, P, Lindblom, A, Liu, T, Smith, CG, West, H, Cheadle, JP, Midgley, R, Kerr, DJ, Campbell, H, Tomlinson, IP, Houlston, RS
Corporate AuthorsColorectal Tumour Gene Identification (CORGI) Consortium,, Swedish Low-Risk Colorectal Cancer Study Group,, COIN Collaborative Group,
JournalNat Genet
Volume44
Issue7
Pagination770-6
Date Published2012 Jul
ISSN1546-1718
KeywordsCase-Control Studies, Colorectal Neoplasms, Cyclin-Dependent Kinase Inhibitor p21, DNA Polymerase III, Genetic Loci, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Humans, Membrane Proteins
Abstract

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.

DOI10.1038/ng.2293
Alternate JournalNat. Genet.
PubMed ID22634755
Grant List076113/C/04/Z / / Wellcome Trust / United Kingdom
090532/Z/09/Z / / Wellcome Trust / United Kingdom
C10195/A12996 / / Cancer Research UK / United Kingdom
C10314/A4886 / / Cancer Research UK / United Kingdom
C1298/A8362 / / Cancer Research UK / United Kingdom
C31250/A10107 / / Cancer Research UK / United Kingdom
C348/A12076 / / Cancer Research UK / United Kingdom
C490/A10124 / / Cancer Research UK / United Kingdom
CA-95-011 / CA / NCI NIH HHS / United States
U01 CA074783 / CA / NCI NIH HHS / United States
U01 CA074794 / CA / NCI NIH HHS / United States
U01 CA074799 / CA / NCI NIH HHS / United States
U01 CA097735 / CA / NCI NIH HHS / United States
U01CA122839 / CA / NCI NIH HHS / United States
/ / Biotechnology and Biological Sciences Research Council / United Kingdom
/ / Medical Research Council / United Kingdom

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