A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer
Fernandez-Rozadilla C, Cazier JB, Tomlinson I, Brea-Fernández A, Lamas MJ, Baiget M, López-Fernández LA, Clofent J, Bujanda L, Gonzalez D, de Castro L, The EPICOLON Consortium, Hemminki K, Bessa X, Andreu M, Jover R, Xicola R, Llor X, Moreno V, Castells A, Castellví-Bel S, Carracedo A, Ruiz-Ponte C. A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer. Human Genetics 2013, 133: 525-534. PMID: 24218287, DOI: 10.1007/s00439-013-1390-4.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesCommon copy number variantsAssociation studiesGenetic variantsWide association studyCommon structural variationCandidate susceptibility variantsCopy number variationsCopy number variantsSNP variationGenomic sourcesObserved heritabilityCopy number statusSusceptibility variantsComplex diseasesQuantitative PCRStructural variationsEnvironmental factorsGenetic fractionsCRC developmentVariantsCRC susceptibilityLociHeritabilitySNPsA colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12
Fernandez-Rozadilla C, Cazier JB, Tomlinson IP, Carvajal-Carmona LG, Palles C, Lamas MJ, Baiget M, López-Fernández LA, Brea-Fernández A, Abulí A, Bujanda L, Clofent J, Gonzalez D, Xicola R, Andreu M, Bessa X, Jover R, Llor X, The EPICOLON Consortium, Moreno V, Castells A, Carracedo Á, Castellvi-Bel S, Ruiz-Ponte C. A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12. BMC Genomics 2013, 14: 55. PMID: 23350875, PMCID: PMC3616862, DOI: 10.1186/1471-2164-14-55.Peer-Reviewed Original ResearchMeSH KeywordsAgedAged, 80 and overChromosomes, Human, Pair 1Chromosomes, Human, Pair 8Cohort StudiesColorectal NeoplasmsDual-Specificity PhosphatasesFemaleGenetic LociGenome, HumanGenome-Wide Association StudyGenotypeHumansMaleMiddle AgedMitogen-Activated Protein Kinase PhosphatasesOdds RatioPolymorphism, Single NucleotidePrincipal Component AnalysisRisk FactorsSpainWhite PeopleConceptsGenome-wide association studiesAssociation studiesGenome-wide statistical significanceCancer genome-wide association studySusceptibility variantsCommon low-risk variantsRisk variantsColorectal cancer genome-wide association studyGood functional candidatesLow-risk variantsCRC susceptibility lociAssociation signalsNew susceptibility variantsCRC risk variantsSusceptibility lociSouthern European populationsLociFunctional candidateEuropean populationsNorthern European originSNPsReplication cohortComplex etiologyEuropean originVariants