Journal Article

Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer

Alan M. Pittman, Emily Webb, Luis Carvajal-Carmona, Kimberley Howarth, Maria Chiara Di Bernardo, Peter Broderick, Sarah Spain, Axel Walther, Amy Price, Kate Sullivan, Philip Twiss, Sarah Fielding, Andrew Rowan, Emma Jaeger, Jayaram Vijayakrishnan, Ian Chandler, Steven Penegar, Mobshra Qureshi, Steven Lubbe, Enric Domingo, Zoe Kemp, Ella Barclay, Wendy Wood, Lynn Martin, Maggie Gorman, Huw Thomas, Julian Peto, Timothy Bishop, Richard Gray, Eamonn R. Maher, Anneke Lucassen, David Kerr, Gareth R. Evans, Tom van Wezel, Hans Morreau, Juul T. Wijnen, John L. Hopper, Melissa C. Southey, Graham G. Giles, Gianluca Severi, Sergi Castellví-Bel, Clara Ruiz-Ponte, Angel Carracedo, Antoni Castells, Asta Försti, Kari Hemminki, Pavel Vodicka, Alessio Naccarati, Lara Lipton, Judy W.C. Ho, K.K. Cheng, Pak C. Sham, J. Luk, Jose A.G. Agúndez, Jose M. Ladero, Miguel de la Hoya, Trinidad Caldés, Iina Niittymäki, Sari Tuupanen, Auli Karhu, Lauri A. Aaltonen, Jean-Baptiste Cazier, Ian P.M. Tomlinson and Richard S. Houlston

in Human Molecular Genetics

Volume 17, issue 23, pages 3720-3727
Published in print December 2008 | ISSN: 0964-6906
Published online August 2008 | e-ISSN: 1460-2083 | DOI:
Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer

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The common single-nucleotide polymorphism (SNP) rs3802842 at 11q23.1 has recently been reported to be associated with risk of colorectal cancer (CRC). To examine this association in detail we genotyped rs3802842 in eight independent case–control series comprising a total of 10 638 cases and 10 457 healthy individuals. A significant association between the C allele of rs3802842 and CRC risk was found (per allele OR = 1.17; 95% confidence interval [CI]: 1.12–1.22; P = 1.08 × 10−12) with the risk allele more frequent in rectal than colonic disease (P = 0.02). In combination with 8q21, 8q24, 10p14, 11q, 15q13.3 and 18q21 variants, the risk of CRC increases with an increasing numbers of variant alleles for the six loci (ORper allele = 1.19; 95% CI: 1.15–1.23; Ptrend = 7.4 × 10−24). Using the data from our genome-wide association study of CRC, LD mapping and imputation, we were able to refine the location of the causal locus to a 60 kb region and screened for coding changes. The absence of exonic mutations in any of the transcripts (FLJ45803, LOC120376, C11orf53 and POU2AF1) mapping to this region makes the association likely to be a consequence of non-coding effects on gene expression.

Journal Article.  4373 words.  Illustrated.

Subjects: Genetics and Genomics

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