2011
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 mechanismsLoci
2008
The expanding genetic overlap between multiple sclerosis and type I diabetes
Booth D, Heard R, Stewart G, Goris A, Dobosi R, Dubois B, Lorentzen Å, Celius E, Harbo H, Spurkland A, Olsson T, Kockum I, Link J, Hillert J, Ban M, Baker A, Sawcer S, Compston A, Mihalova T, Strange R, Hawkins C, Ingram G, Robertson N, De Jager P, Hafler D, Barcellos L, Ivinson A, Pericak-Vance M, Oksenberg J, Hauser S, McCauley J, Sexton D, Haines J. The expanding genetic overlap between multiple sclerosis and type I diabetes. Genes & Immunity 2008, 10: 11-14. PMID: 18987646, PMCID: PMC2718424, DOI: 10.1038/gene.2008.83.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdultAllelesAmino Acid SubstitutionAntigens, Differentiation, T-LymphocyteAustraliaBelgiumCase-Control StudiesConfidence IntervalsDiabetes Mellitus, Type 1FamilyGenetic Predisposition to DiseaseHumansLectins, C-TypeLinkage DisequilibriumMiddle AgedMonosaccharide Transport ProteinsMultiple SclerosisNorwayOdds RatioPolymorphism, Single NucleotideProbabilitySwedenTryptophanUnited KingdomUnited StatesConceptsSingle nucleotide polymorphismsSusceptibility genesAutoimmune susceptibility genesMultiple sclerosis susceptibility genesClustering of autoimmune diseasesAssociated with type I diabetesTrio familiesCD226 geneEvidence of associationNucleotide polymorphismsCLEC16A geneGenetic overlapGenesMultiple sclerosis dataType I diabetesMultiple sclerosisAutoimmune diseasesFamilial clusteringRs12708716CLEC16ARs763361