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
2010
A Randomized Controlled Double-Masked Trial of Albuterol Add-on Therapy in Patients With Multiple Sclerosis
Khoury SJ, Healy BC, Kivisäkk P, Viglietta V, Egorova S, Guttmann CR, Wedgwood JF, Hafler DA, Weiner HL, Buckle G, Cook S, Reddy S. A Randomized Controlled Double-Masked Trial of Albuterol Add-on Therapy in Patients With Multiple Sclerosis. JAMA Neurology 2010, 67: 1055-1061. PMID: 20837847, PMCID: PMC2954052, DOI: 10.1001/archneurol.2010.222.Peer-Reviewed Original ResearchMeSH KeywordsAdjuvants, ImmunologicAdrenergic beta-AgonistsAdultAlbuterolDouble-Blind MethodDrug Administration ScheduleDrug Therapy, CombinationFemaleGlatiramer AcetateHumansInterferon-gammaInterleukin-13Logistic ModelsMaleMiddle AgedMultiple Sclerosis, Relapsing-RemittingOdds RatioPeptidesPilot ProjectsTreatment OutcomeConceptsMultiple Sclerosis Functional CompositeRelapsing-remitting multiple sclerosisGlatiramer acetateMultiple sclerosisClinical trialsAlbuterol groupTime pointsOral doseIL-13Subcutaneous injectionHelper T-cell subtypes 1Double-masked clinical trialGlatiramer acetate treatmentImmunologic end pointsMasked clinical trialEffects of albuterolIL-12 expressionIL-13 productionStudy time pointsΒ2-adrenergic agonistAlbuterol treatmentAcetate therapyAdverse eventsFirst relapseImmunologic effectsHLA B*44
Healy BC, Liguori M, Tran D, Chitnis T, Glanz B, Wolfish C, Gauthier S, Buckle G, Houtchens M, Stazzone L, Khoury S, Hartzmann R, Fernandez-Vina M, Hafler DA, Weiner HL, Guttmann CR, De Jager PL. HLA B*44. Neurology 2010, 75: 634-640. PMID: 20713950, PMCID: PMC2931768, DOI: 10.1212/wnl.0b013e3181ed9c9c.Peer-Reviewed Original ResearchMeSH KeywordsAdultChi-Square DistributionDisease ProgressionFemaleGene FrequencyGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHLA AntigensHLA-A AntigensHLA-B AntigensHLA-B44 AntigenHLA-C AntigensHumansLogistic ModelsMagnetic Resonance ImagingMaleMiddle AgedMultiple SclerosisOutcome Assessment, Health CareRadiographySeverity of Illness IndexConceptsDisease courseT2 hyperintense lesion volumeBetter radiologic outcomesHyperintense lesion volumeT2 hyperintense lesionsBrain parenchymal fractionBone Marrow Donor RegistryMHC class IMarrow Donor RegistryMS susceptibility lociClass I MHC lociRadiologic outcomesHyperintense lesionsParenchymal fractionLesion volumeOutcome measuresClinical measuresMS susceptibilityBrain volumeHLAProtective allelesLogistic regressionPatient samplesDonor registryRisk allelesA Major Histocompatibility Class I Locus Contributes to Multiple Sclerosis Susceptibility Independently from HLA-DRB1*15:01
Cree BA, Rioux JD, McCauley JL, Gourraud PA, Goyette P, McElroy J, De Jager P, Santaniello A, Vyse TJ, Gregersen PK, Mirel D, Hafler DA, Haines JL, Pericak-Vance MA, Compston A, Sawcer SJ, Oksenberg JR, Hauser SL, , . A Major Histocompatibility Class I Locus Contributes to Multiple Sclerosis Susceptibility Independently from HLA-DRB1*15:01. PLOS ONE 2010, 5: e11296. PMID: 20593013, PMCID: PMC2892470, DOI: 10.1371/journal.pone.0011296.Peer-Reviewed Original ResearchConceptsCase-control analysisMS susceptibilityMultiple sclerosisSingle nucleotide polymorphismsClass IMS susceptibility allelesMultiple sclerosis susceptibilityMajor histocompatibility class ICochran-Armitage trend testLogistic regression modelingHLA-G geneMHC class IReplication datasetDiscovery datasetHistocompatibility class IArmitage trend testHLASignificant associationClass IIGenetic susceptibilityMajor histocompatibility complex (MHC) genesRegression modelingSusceptibility allelesP-valueMHCCIITA variation in the presence of HLA-DRB1*1501 increases risk for multiple sclerosis
Bronson PG, Caillier S, Ramsay PP, McCauley JL, Zuvich RL, De Jager PL, Rioux JD, Ivinson AJ, Compston A, Hafler DA, Sawcer SJ, Pericak-Vance MA, Haines JL, Consortium T, Hauser S, Oksenberg J, Barcellos L. CIITA variation in the presence of HLA-DRB1*1501 increases risk for multiple sclerosis. Human Molecular Genetics 2010, 19: 2331-2340. PMID: 20211854, PMCID: PMC2865376, DOI: 10.1093/hmg/ddq101.Peer-Reviewed Original ResearchConceptsClass II transactivator geneMultiple sclerosisPresence of HLAMHC class II transactivator geneMS risk alleleClass II MHCLogistic regression analysisG promoter variantPromoter variantsMS riskAntigen presentationII MHCIncrease riskRisk allelesMulti-stage investigationRs4774Important transcription factorSclerosisRegression analysisHLARiskStage 1Stage 2Transactivator geneAssociation