Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33
Open accessAbstract
Genome-wide association studies (GWAS) have identified ten loci harboring common variants that influence risk of developing colorectal cancer (CRC). To enhance the power to identify additional CRC risk loci, we conducted a meta-analysis of three GWAS from the UK which included a total of 3,334 affected individuals (cases) and 4,628 controls followed by multiple validation analyses including a total of 18,095 cases and 20,197 controls. We identified associations at four new CRC risk loci: 1q41 (rs6691170, odds ratio (OR) = 1.06, P = 9.55 × 10⁻¹⁰ and rs6687758, OR = 1.09, P = 2.27 × 10⁻⁹, 3q26.2 (rs10936599, OR = 0.93, P = 3.39 × 10⁻⁸), 12q13.13 (rs11169552, OR = 0.92, P = 1.89 × 10⁻¹⁰ and rs7136702, OR = 1.06, P = 4.02 × 10⁻⁸) and 20q13.33 (rs4925386, OR = 0.93, P = 1.89 × 10⁻¹⁰). In addition to identifying new CRC risk loci, this analysis provides evidence that additional CRC-associated variants of similar effect size remain to be discovered.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The large-scale impact of large numbers of common variants may be a general feature of human complex traits.
“Indeed, the large-scale impact of large numbers of common variants may be a general feature of human complex traits 70–77”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [74]
Hypothesized genetic architectures consisting entirely of rare variants are inconsistent with the data for AD, ASD, BIP, and SCZ (as well as for multiple other complex biomedical diseases).
“Hypothesized genetic architectures consisting entirely of rare variants are inconsistent with the data for AD, ASD, BIP, and SCZ (as well as for multiple other complex biomedical diseases). 70–77”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [74]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
The citation lists haven’t been fetched yet
References 14 · Cited by 360
- Authors
- The COGENT Consortium, Houlston, R. S., The CORGI Consortium, The COIN Collaborative Group, The COINB Collaborative Group, Cheadle, J., Dobbins, S. E., Tenesa, A., Jones, A. M., Howarth, K., Spain, S. L., Broderick, P., Domingo, E., Farrington, S., Prendergast, J. G. D., Pittman, A. M., Theodoratou, E., Smith, C. G., Olver, B., Walther, A., Barnetson, R. A., Churchman, M., Jaeger, E. E. M., Penegar, S., Barclay, E., Martin, L., Gorman, M., Mager, R., Johnstone, E., Midgley, R., Niittymäki, I., Tuupanen, S., Colley, J., Idziaszczyk, S., Thomas, H. J. W., Lucassen, A. M., Evans, D. G. R., Maher, E. R., Maughan, T., Dimas, A., Dermitzakis, E., Cazier, J.-B., Aaltonen, L. A., Pharoah, P., Kerr, D. J., Carvajal-Carmona, L. G., Campbell, H., Dunlop, M. G., & Tomlinson, I. P. M.
- Affiliations
- Institute of Cancer Research (GB)
- Cardiff University (GB)
- Institute of Genetics and Cancer (GB)
- Centre for Human Genetics (GB)
- University of Oxford (GB)
- University of Helsinki (FI)
- Cancer Research UK (GB)
- Princess Anne Hospital (GB)
- St Mary's Hospital (GB)
- University of Geneva (CH)
- Corresponding author
- Houlston, Richard S
- Dunlop, Malcolm G
- Tomlinson, Ian P M
- ORCID
- Houlston, Richard S
- Cheadle, Jeremy
- Dobbins, Sara E
- Tenesa, Albert
- Howarth, Kimberley
- Spain, Sarah L
- Broderick, Peter
- Domingo, Enric
- Farrington, Susan
- Prendergast, James G D
- Pittman, Alan M
- Smith, Christopher G
- Walther, Axel
- Churchman, Michael
- Penegar, Steven
- Martin, Lynn
- Johnstone, Elaine
- Thomas, Huw J W
- Lucassen, Anneke M
- Evans, D Gareth R
- Maher, Eamonn R
- Dimas, Antigone
- Dermitzakis, Emmanouil
- Cazier, Jean-Baptiste
- Aaltonen, Lauri A
- Pharoah, Paul
- Dunlop, Malcolm G
- Tomlinson, Ian P M
- Venue
- Nature Genetics
- Published
- 2010-10-24
- Volume
- 42
- Issue
- 11
- Pages
- 973-977
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC5098601
- OpenAlex
- W2041514837
- Cited by
- 360
- References
- 14
- Citations by year
- 2026: 1 · 2025: 5 · 2024: 4 · 2023: 9 · 2022: 8 · 2021: 16 · 2020: 10 · 2019: 19 · 2018: 26 · 2017: 22 · 2016: 31 · 2015: 44 · 2014: 35 · 2013: 45 · 2012: 59
- FWCI
- 4.40
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Edinburgh Research Explorer (University of Edinburgh) (submittedVersion)
- ePrints Soton (University of Southampton) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- University of Birmingham Research Portal (University of Birmingham) (submittedVersion)
- Research Explorer (The University of Manchester) (submittedVersion)
- Research Portal (Queen's University Belfast) (submittedVersion)
- Funders
- Wellcome Trust
- Cancer Research UK (10119, A10124, 10124, A10119)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Health Sciences › Medicine › Oncology › Colorectal Cancer Screening and Detection
- Keywords
- colorectal cancer, cancer susceptibility loci, genetic risk variants, single nucleotide polymorphisms, genetic association
- MeSH terms
- Chromosome Mapping, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 12, Chromosomes, Human, Pair 13, Chromosomes, Human, Pair 3, Female, Genotype, Humans, Male, Colorectal Neoplasms, Meta-Analysis as Topic, Odds Ratio, Risk Assessment, Genetic Predisposition to Disease, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide, Genome-Wide Association Study
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
