ArticleBMC genomics2013
A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12.
Article in BMC genomics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- Pooled it
- The MLH1 c.1852_1853delinsGC (p.K618A) variant in colorectal cancer: genetic association study in 18,723 individuals.PloS one · 2014Trial
- LncRNA RP11-708J19.2 promotes colorectal cancer progression by binding to SIRT7European journal of histochemistry : EJH · 2026Article
- Challenging Patterns of Fine-Scale Genetic Structure in Galicia and East-to-West Genetic Divergence Across the Iberian Peninsula-When Technical Batches Rewrite History.FASEB bioAdvances · 2026Article
- Envisioning Glucose Transporters (GLUTs and SGLTs) as Novel Intervention against Cancer: Drug Discovery Perspective and Targeting Approach.Current drug targets · 2025Review
- Evaluating the Potential of Polygenic Risk Score to Improve Colorectal Cancer Screening.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2022Article
- Article
- Sodium-coupled glucose transport, the SLC5 family, and therapeutically relevant inhibitors: from molecular discovery to clinical application.Pflugers Archiv : European journal of physiology · 2020Review
- Using linkage studies combined with whole-exome sequencing to identify novel candidate genes for familial colorectal cancer.International journal of cancer · 2020Article
- Relevance of solute carrier family 5 transporter defects to inherited and acquired human disease.Journal of applied genetics · 2019Review
- Identification of a Novel Candidate Gene for Serrated Polyposis Syndrome Germline Predisposition by Performing Linkage Analysis Combined With Whole-Exome Sequencing.Clinical and translational gastroenterology · 2019Article
- Spatially explicit analysis reveals complex human genetic gradients in the Iberian Peninsula.Scientific reports · 2019Article
- Patterns of genetic differentiation and the footprints of historical migrations in the Iberian Peninsula.Nature communications · 2019Article
- Quantitative analysis of somatically acquired and constitutive uniparental disomy in gastrointestinal cancers.International journal of cancer · 2019Article
- Genetic susceptibility in the development of colorectal adenomas according to family history of colorectal cancer.International journal of cancer · 2019Article
- Observational
- The genetic heterogeneity of colorectal cancer predisposition - guidelines for gene discovery.Cellular oncology (Dordrecht, Netherlands) · 2016Review
- Distinct NF-κB and MAPK Activation Thresholds Uncouple Steady-State Microbe Sensing from Anti-pathogen Inflammatory Responses.Cell systems · 2016Article
- Identification of a Potential Regulatory Variant for Colorectal Cancer Risk Mapping to 3p21.31 in Chinese Population.Scientific reports · 2016Article
- Article
Corrections and comments
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Authors and funding
24 authors at 12 institutions in 3 countries.
Funding
Abstract
backgroundColorectal cancer (CRC) is a disease of complex aetiology, with much of the expected inherited risk being due to several common low risk variants. Genome-Wide Association Studies (GWAS) have identified 20 CRC risk variants. Nevertheless, these have only been able to explain part of the missing heritability. Moreover, these signals have only been inspected in populations of Northern European origin.
resultsThus, we followed the same approach in a Spanish cohort of 881 cases and 667 controls. Sixty-four variants at 24 loci were found to be associated with CRC at p-values <10-5. We therefore evaluated the 24 loci in another Spanish replication cohort (1481 cases and 1850 controls). Two of these SNPs, rs12080929 at 1p33 (Preplication=0.042; Ppooled=5.523x10-03; OR (CI95%)=0.866(0.782-0.959)) and rs11987193 at 8p12 (Preplication=0.039; Ppooled=6.985x10-5; OR (CI95%)=0.786(0.705-0.878)) were replicated in the second Phase, although they did not reach genome-wide statistical significance.
conclusionsWe have performed the first CRC GWAS in a Southern European population and by these means we were able to identify two new susceptibility variants at 1p33 and 8p12 loci. These two SNPs are located near the SLC5A9 and DUSP4 loci, respectively, which could be good functional candidates for the association signals. We therefore believe that these two markers constitute good candidates for CRC susceptibility loci and should be further evaluated in other larger datasets. Moreover, we highlight that were these two SNPs true susceptibility variants, they would constitute a decrease in the CRC missing heritability fraction.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.