Interrogating the complex role of chromosome 16p13.13 in multiple sclerosis susceptibility: independent genetic signals in the CIITA–CLEC16A–SOCS1 gene complex
Zuvich RL, Bush WS, McCauley JL, Beecham AH, De Jager PL, Consortium T, Ivinson A, Compston A, Hafler D, Hauser S, Sawcer S, Pericak-Vance M, Barcellos L, Mortlock D, Haines J. Interrogating the complex role of chromosome 16p13.13 in multiple sclerosis susceptibility: independent genetic signals in the CIITA–CLEC16A–SOCS1 gene complex. Human Molecular Genetics 2011, 20: 3517-3524. PMID: 21653641, PMCID: PMC3153306, DOI: 10.1093/hmg/ddr250.Peer-Reviewed Original ResearchMeSH KeywordsCCCTC-Binding FactorChromosomes, Human, Pair 16FemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansLectins, C-TypeLinkage DisequilibriumLogistic ModelsMaleMonosaccharide Transport ProteinsMultiple SclerosisQuantitative Trait LociRepressor ProteinsSuppressor of Cytokine Signaling 1 ProteinSuppressor of Cytokine Signaling ProteinsConceptsIndependent genetic signalsGenetic signalsLymphoblastoid cell linesChromosome 16p13Cis expression QTLsOpen chromatin configurationCell linesLinkage disequilibrium patternsExpression array dataH3K27 methylationHistone modificationsGenomic regionsKb stretchStrong genetic componentSingle nucleotide polymorphismsChromatin configurationExpression correlationGene complexDisequilibrium patternsDisease locusGenesCorrelated expressionGenetic componentFunctional mechanismsLociModeling the cumulative genetic risk for multiple sclerosis from genome-wide association data
Wang JH, Pappas D, De Jager PL, Pelletier D, de Bakker PI, Kappos L, Polman CH, Australian and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene), Chibnik LB, Hafler DA, Matthews PM, Hauser SL, Baranzini SE, Oksenberg JR. Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data. Genome Medicine 2011, 3: 3. PMID: 21244703, PMCID: PMC3092088, DOI: 10.1186/gm217.Peer-Reviewed Original ResearchGenome-wide association studiesGenome-wide association dataDAVID functional annotation toolMS geneticsAssociation dataFunctional annotation toolAvailable genome-wide association dataRecent genome-wide association studiesPathway enrichment analysisNovel genetic associationsNervous system developmentPolygenic modelCumulative genetic riskGene OntologyGWAS datasetsEnrichment analysisGenetic riskAssociation studiesDisease locusCell adhesionSignificant enrichmentNeuronal signalingAnalysis of covarianceIonotropic glutamate receptorsGenetic association