A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2013-11-12

AUTHORS

C. Fernandez-Rozadilla, J. B. Cazier, I. Tomlinson, A. Brea-Fernández, M. J. Lamas, M. Baiget, L. A. López-Fernández, J. Clofent, L. Bujanda, D. Gonzalez, L. de Castro, The EPICOLON Consortium, K. Hemminki, X. Bessa, M. Andreu, R. Jover, R. Xicola, X. Llor, V. Moreno, A. Castells, S. Castellví-Bel, A. Carracedo, C. Ruiz-Ponte

ABSTRACT

Colorectal cancer (CRC) is a complex disease, and therefore its development is determined by the combination of both environmental factors and genetic variants. Although genome-wide association studies (GWAS) of SNP variation have conveniently identified 20 genetic variants so far, a significant proportion of the observed heritability is yet to be explained. Common copy-number variants (CNVs) are one of the most important genomic sources of variability, and hence a potential source to explain part of this missing genetic fraction. Therefore, we have performed a GWAS on CNVs to explore the relationship between common structural variation and CRC development. Phase 1 of the GWAS consisted of 881 cases and 667 controls from a Spanish cohort. Copy-number status was validated by quantitative PCR for each of those common CNVs potentially associated with CRC in phase I. Subsequently, SNPs were chosen as proxies for the validated CNVs for phase II replication (1,342 Spanish cases and 1,874 Spanish controls). Four common CNVs were found to be associated with CRC and were further replicated in Phase II. Finally, we found that SNP rs1944682, tagging a 11q11 CNV, was nominally associated with CRC susceptibility (p value = 0.039; OR = 1.122). This locus has been previously related to extreme obesity phenotypes, which could suggest a relationship between body weight and CRC susceptibility. More... »

PAGES

525-534

References to SciGraph publications

  • 2007-10. A second generation human haplotype map of over 3.1 million SNPs in NATURE
  • 2008-09-07. Systematic assessment of copy number variant detection via genome-wide SNP genotyping in NATURE GENETICS
  • 2001-03. Variation is the spice of life in NATURE GENETICS
  • 2010-10-24. Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33 in NATURE GENETICS
  • 2007-07-08. A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21 in NATURE GENETICS
  • 2007-06-27. Copy-number variation and association studies of human disease in NATURE GENETICS
  • 2008-11-16. Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer in NATURE GENETICS
  • 2005-12-04. Common deletions and SNPs are in linkage disequilibrium in the human genome in NATURE GENETICS
  • 2006-11. Global variation in copy number in the human genome in NATURE
  • 2008-03-30. Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21 in NATURE GENETICS
  • 2013-01-26. A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12 in BMC GENOMICS
  • 2008-03-30. A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3 in NATURE GENETICS
  • 2010-04. Genome-wide association study of copy number variation in 16,000 cases of eight common diseases and 3,000 shared controls in NATURE
  • 2005-02. Genome-wide association studies: theoretical and practical concerns in NATURE REVIEWS GENETICS
  • 2012-05-27. Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk in NATURE GENETICS
  • 2007-06-27. Challenges and standards in integrating surveys of structural variation in NATURE GENETICS
  • 2009-10-07. Origins and functional impact of copy number variation in the human genome in NATURE
  • 2008-09-07. Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs in NATURE GENETICS
  • 2011-08-31. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus in NATURE
  • 2009-03-08. The impact of copy number variation on local gene expression in mouse hematopoietic stem/progenitor cells in NATURE GENETICS
  • 2008-09-07. Integrated detection and population-genetic analysis of SNPs and copy number variation in NATURE GENETICS
  • 2011-11-03. Genome-wide association study of copy number variation identified gremlin1 as a candidate gene for lean body mass in JOURNAL OF HUMAN GENETICS
  • Journal

    TITLE

    Human Genetics

    ISSUE

    5

    VOLUME

    133

    Author Affiliations

  • Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
  • Bioinformatics Core Group, Department of Oncology, University of Oxford, Oxford, UK
  • NIHR Comprehensive Biomedical Research Centre, University of Oxford, OX3 7BN, Oxford, UK
  • Grupo de Medicina Xenómica, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERer)-Universidad de Santiago de Compostela, 15706, Santiago, Spain
  • Oncology Pharmacy Unit, Complejo Hospitalario Universitario of Santiago (CHUS), 15706, Santiago, Spain
  • Genetics Department, Hospital de Santa Creu I Sant Pau, 08025, Barcelona, Spain
  • Pharmacogenetics and Pharmacogenomics Laboratory, Servicio de Farmacia, Instituto de Investigación Sanitaria Gregorio Marañón, Hospital General Universitario Gregorio Marañón, 28007, Madrid, Spain
  • Section of Digestive Diseases, Internal Medicine Department, Hospital Sagunto, 46520, Valencia, Spain
  • Colorectal Cancer Multidisciplinary Unit, Donostia Hospital, University of the Basque Country, San Sebastián, Spain
  • Servicio de Patologia Digestiva, Hospital Sant PAu, 08003, Barcelona, Spain
  • Gastroenterology Department, Hospital do Meixoeiro, 36214, Vigo, Spain
  • Center for Primary Health Care Research, Lund University, Malmö, Sweden
  • Gastroenterology Department, Hospital del Mar, Barcelona, Spain
  • Gastroenterology Department, Hospital General de Alicante, Alicante, Spain
  • Section of Digestive Diseases and Nutrition, University of Illinois at Chicago, Chicago, IL, USA
  • Cancer Prevention and Control Program, Catalan Institute of Oncology (ICO), Bellvitge Biomedical Research Centre (IDIBELL), CIBERESP, 08907, Barcelona, Spain
  • Department of Gastroenterology, Hospital Clínic, CIBERehd, IDIBAPS, University of Barcelona, Barcelona, Spain
  • Center of Excellence in Genomic Medicine Research (CEGMR), King Abdulaziz University, Jidda, Saudi Arabia
  • Fundación Pública Galega de Medicina Xenómica (FPGMX)-SERGAS, Grupo de Medicina Xenómica, IDIS, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERer), Complexo Hospitalario Universitario de Santiago, Choupana s/n, 15706, Santiago, Spain
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s00439-013-1390-4

    DOI

    http://dx.doi.org/10.1007/s00439-013-1390-4

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1017956086

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/24218287


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