2018
Chapter 46 Multiple sclerosis
Cotsapas C, Mitrovic M, Hafler D. Chapter 46 Multiple sclerosis. Handbook Of Clinical Neurology 2018, 148: 723-730. PMID: 29478610, DOI: 10.1016/b978-0-444-64076-5.00046-6.Peer-Reviewed Original ResearchConceptsMultiple sclerosisCentral nervous system white matterNervous system white matterAutoimmune neurologic disordersDisease-modifying therapiesImmune function modulationSpecific immune subsetsCentral nervous systemGenetic variantsImmune subsetsNeurologic symptomsAutoimmune attackLeading causeNeurologic disordersNervous systemWhite matterCommon genetic variantsOverall riskSclerosisYoung adultsEnvironmental exposuresRiskSymptomsDiseasePatients
2010
CIITA 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
2008
Integrating risk factors
De Jager PL, Simon KC, Munger KL, Rioux JD, Hafler DA, Ascherio A. Integrating risk factors. Neurology 2008, 70: 1113-1118. PMID: 18272866, DOI: 10.1212/01.wnl.0000294325.63006.f8.Peer-Reviewed Original ResearchMeSH KeywordsAdultAntibodiesBiomarkersCase-Control StudiesComorbidityEpstein-Barr Virus InfectionsEpstein-Barr Virus Nuclear AntigensFemaleGene FrequencyGenetic Predisposition to DiseaseGenotypeHerpesvirus 4, HumanHeterozygoteHLA-DR AntigensHLA-DRB1 ChainsHumansMiddle AgedMultiple SclerosisRisk FactorsConceptsMultiple sclerosisHuman leukocyte antigenAntibody titersRisk factorsDR15 alleleEpstein-Barr virus (EBV) antibody titersAge-matched healthy womenRisk of MSEpstein-Barr virus nuclear antigen 1Independent risk factorVirus antibody titersCase-control studyNuclear antigen 1Healthy womenMS riskLeukocyte antigenRelative riskGenetic susceptibilityAntigen 1TitersWomenSclerosisRiskDR15Association
2007
The role of the Toll receptor pathway in susceptibility to inflammatory bowel diseases
De Jager PL, Franchimont D, Waliszewska A, Bitton A, Cohen A, Langelier D, Belaiche J, Vermeire S, Farwell L, Goris A, Libioulle C, Jani N, Dassopoulos T, Bromfield GP, Dubois B, Cho JH, Brant SR, Duerr RH, Yang H, Rotter JI, Silverberg MS, Steinhart AH, Daly MJ, Podolsky DK, Louis E, Hafler DA, Rioux JD. The role of the Toll receptor pathway in susceptibility to inflammatory bowel diseases. Genes & Immunity 2007, 8: 387-397. PMID: 17538633, DOI: 10.1038/sj.gene.6364398.Peer-Reviewed Original ResearchConceptsInflammatory bowel diseaseCases of IBDRisk of IBDToll-like receptorsBowel diseaseIBD risk allelesUlcerative colitisCrohn's diseaseTLR4 pathwayIBD pathophysiologyIntestinal floraTLR pathwayTLR4 allelesHost defenseReceptor pathwayRisk allelesTLR genesDiseaseTLR4Modest effectHost/pathogen interactionsTIRAPAssociationReplication studyRisk
1998
Extreme Th1 bias of invariant Vα24JαQ T cells in type 1 diabetes
Wilson S, Kent S, Patton K, Orban T, Jackson R, Exley M, Porcelli S, Schatz D, Atkinson M, Balk S, Strominger J, Hafler D. Extreme Th1 bias of invariant Vα24JαQ T cells in type 1 diabetes. Nature 1998, 391: 177-181. PMID: 9428763, DOI: 10.1038/34419.Peer-Reviewed Original ResearchConceptsType 1 diabetesT cellsMajor histocompatibility complexIL-4T cell-mediated destructionNon-diabetic siblingsAutoreactive T cellsHigher serum levelsTwins/tripletsType1 diabetic patientsDiabetic patientsSerum levelsTh1 biasDiabetic siblingsImmune systemTissue damageIncomplete concordanceDiabetesHistocompatibility complexIDDMIdentical twinsIFNDiseaseRiskCells