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Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21

Tenesa, Albert; Farrington, Susan M; Prendergast, James G D; Porteous, Mary E; Walker, Marion; Haq, Naila; Barnetson, Rebecca A; Theodoratou, Evropi; Cetnarskyj, Roseanne; Cartwright, Nicola; Semple, Colin; Clark, Andrew J; Reid, Fiona J L; Smith, Lorna A; Kavoussanakis, Kostas; Koessler, Thibaud; Pharoah, Paul D P; Buch, Stephan; Schafmayer, Clemens; Tepel, J?rgen; Schreiber, Stefan; V?lzke, Henry; Schmidt, Carsten O; Hampe, Jochen; Chang-Claude, Jenny; Hoffmeister, Michael; Brenner, Hermann; Wilkening, Stefan; Canzian, Federico; Capella, Gabriel; Moreno, Victor; Deary, Ian J; Starr, John M; Tomlinson, Ian P M; Kemp, Zoe; Howarth, Kimberley; Carvajal-Carmona, Luis; Webb, Emily; Broderick, Peter; Vijayakrishnan, Jayaram; Houlston, Richard S; Rennert, Gad; Ballinger, Dennis; Rozek, Laura; Gruber, Stephen B; Matsuda, Koichi; Kidokoro, Tomohide; Nakamura, Yusuke; Zanke, Brent W; Greenwood, Celia M T; Rangrej, Jagadish; Kustra, Rafal; Montpetit, Alexandre; Hudson, Thomas J; Gallinger, Stev...


Albert Tenesa

Susan M Farrington

James G D Prendergast

Mary E Porteous

Marion Walker

Naila Haq

Rebecca A Barnetson

Evropi Theodoratou

Roseanne Cetnarskyj

Nicola Cartwright

Colin Semple

Andrew J Clark

Fiona J L Reid

Lorna A Smith

Kostas Kavoussanakis

Thibaud Koessler

Paul D P Pharoah

Stephan Buch

Clemens Schafmayer


Stefan Schreiber


Carsten O Schmidt

Jochen Hampe

Jenny Chang-Claude

Michael Hoffmeister

Hermann Brenner

Stefan Wilkening

Federico Canzian

Gabriel Capella

Victor Moreno

Ian J Deary

John M Starr

Ian P M Tomlinson

Zoe Kemp

Kimberley Howarth

Luis Carvajal-Carmona

Emily Webb

Peter Broderick

Jayaram Vijayakrishnan

Richard S Houlston

Gad Rennert

Dennis Ballinger

Laura Rozek

Stephen B Gruber

Koichi Matsuda

Tomohide Kidokoro

Yusuke Nakamura

Brent W Zanke

Celia M T Greenwood

Jagadish Rangrej

Rafal Kustra

Alexandre Montpetit

Thomas J Hudson

Steven Gallinger

Harry Campbell

Malcolm G Dunlop


In a genome-wide association study to identify loci associated with colorectal cancer (CRC) risk, we genotyped 555,510 SNPs in 1,012 early-onset Scottish CRC cases and 1,012 controls (phase 1). In phase 2, we genotyped the 15,008 highest-ranked SNPs in 2,057 Scottish cases and 2,111 controls. We then genotyped the five highest-ranked SNPs from the joint phase 1 and 2 analysis in 14,500 cases and 13,294 controls from seven populations, and identified a previously unreported association, rs3802842 on 11q23 (OR = 1.1; P = 5.8 10-10), showing population differences in risk. We also replicated and fine-mapped associations at 8q24 (rs7014346; OR = 1.19; P = 8.6 10-26) and 18q21 (rs4939827; OR = 1.2; P = 7.8 10-28). Risk was greater for rectal than for colon cancer for rs3802842 (P < 0.008) and rs4939827 (P < 0.009). Carrying all six possible risk alleles yielded OR = 2.6 (95% CI = 1.75–3.89) for CRC. These findings extend our understanding of the role of common genetic variation in CRC etiology.


Tenesa, A., Farrington, S. M., Prendergast, J. G. D., Porteous, M. E., Walker, M., Haq, N., …Dunlop, M. G. (2008). Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. Nature Genetics, 40, 631-637.

Journal Article Type Article
Publication Date 2008
Deposit Date Mar 13, 2014
Print ISSN 1061-4036
Electronic ISSN 1546-1718
Publisher Nature Publishing Group
Peer Reviewed Peer Reviewed
Volume 40
Pages 631-637
Keywords Colorectal cancer; genetic variation; CRC etiology;
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