2012
Immune-mediated disease genetics: the shared basis of pathogenesis
Cotsapas C, Hafler DA. Immune-mediated disease genetics: the shared basis of pathogenesis. Trends In Immunology 2012, 34: 22-26. PMID: 23031829, DOI: 10.1016/j.it.2012.09.001.Peer-Reviewed Original ResearchMeSH KeywordsGenetic Predisposition to DiseaseGenetic TestingGenome-Wide Association StudyHumansImmune SystemRisk FactorsConceptsRecent genetic studiesGenomic lociDisease geneticsMolecular basisGenetic studiesMolecular causesMolecular defectsRisk variantsSpecific pathwaysBasis of pathogenesisActionable discoveriesGeneticsInflammatory diseasesOverall symptomatologyDisease heterogeneityLociVariantsDiseasePathwayPathogenesisHigh rateRational approachDiscoveryPathobiology
2009
Mapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseases
Rioux J, Goyette P, Vyse T, Hammarström L, Fernando M, Green T, De Jager P, Foisy S, Wang J, de Bakker P, Leslie S, McVean G, Padyukov L, Alfredsson L, Annese V, Hafler D, Pan-Hammarström Q, Matell R, Sawcer S, Compston A, Cree B, Mirel D, Daly M, Behrens T, Klareskog L, Gregersen P, Oksenberg J, Hauser S. Mapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseases. Proceedings Of The National Academy Of Sciences Of The United States Of America 2009, 106: 18680-18685. PMID: 19846760, PMCID: PMC2773992, DOI: 10.1073/pnas.0909307106.Peer-Reviewed Original ResearchConceptsAutoimmune diseasesSystemic lupus erythematosusSelective IgA deficiencyStrong susceptibility locusNon-HLA genesMHC regionLupus erythematosusMyasthenia gravisUlcerative colitisCrohn's diseaseRheumatoid arthritisIgA deficiencyMultiple sclerosisMultiple susceptibility variantsMHC associationsDiseaseAppropriate control samplesPrimary association signalStrong linkage disequilibriumIndependent association signalsHuman MHCSusceptibility variantsSusceptibility lociAssociation signalsMost studies
2005
A High-Density Screen for Linkage in Multiple Sclerosis
Sawcer S, Ban M, Maranian M, Yeo TW, Compston A, Kirby A, Daly MJ, De Jager PL, Walsh E, Lander ES, Rioux JD, Hafler DA, Ivinson A, Rimmler J, Gregory SG, Schmidt S, Pericak-Vance MA, Akesson E, Hillert J, Datta P, Oturai A, Ryder LP, Harbo HF, Spurkland A, Myhr KM, Laaksonen M, Booth D, Heard R, Stewart G, Lincoln R, Barcellos LF, Hauser SL, Oksenberg JR, Kenealy SJ, Haines JL. A High-Density Screen for Linkage in Multiple Sclerosis. American Journal Of Human Genetics 2005, 77: 454-467. PMID: 16080120, PMCID: PMC1226210, DOI: 10.1086/444547.Peer-Reviewed Original Research
2004
Re: GAMES issue study: Are international genetic consortia functional?
De Jager PL, Walsh EC, Rioux JD, Hafler DA. Re: GAMES issue study: Are international genetic consortia functional? Journal Of Neuroimmunology 2004, 153: 5-6. PMID: 15334748.Peer-Reviewed Original Research
2003
CTLA4 is associated with susceptibility to multiple sclerosis
Kantarci OH, Hebrink DD, Achenbach SJ, Atkinson EJ, Waliszewska A, Buckle G, McMurray CT, de Andrade M, Hafler DA, Weinshenker BG. CTLA4 is associated with susceptibility to multiple sclerosis. Journal Of Neuroimmunology 2003, 134: 133-141. PMID: 12507781, DOI: 10.1016/s0165-5728(02)00395-8.Peer-Reviewed Original ResearchAbataceptAge of OnsetAlternative SplicingAntigens, CDAntigens, DifferentiationBostonCTLA-4 AntigenDisease ProgressionDNA Mutational AnalysisExonsFemaleGenetic LinkageGenetic Predisposition to DiseaseGenetic TestingGenetic VariationGenotypeHaplotypesHumansImmunoconjugatesMaleMicrosatellite RepeatsMinnesotaMultiple SclerosisPolymorphism, Genetic