2016
The Link Between CD6 and Autoimmunity: Genetic and Cellular Associations.
Kofler DM, Farkas A, von Bergwelt-Baildon M, Hafler DA. The Link Between CD6 and Autoimmunity: Genetic and Cellular Associations. Current Drug Targets 2016, 17: 651-65. PMID: 26844569, DOI: 10.2174/1389450117666160201105934.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAntigens, CDAntigens, Differentiation, T-LymphocyteArthritis, RheumatoidAutoimmunityCD4-Positive T-LymphocytesCell Adhesion Molecules, NeuronalClinical Trials as TopicDisease Models, AnimalFetal ProteinsGenetic Predisposition to DiseaseHumansMultiple SclerosisPolymorphism, Single NucleotideConceptsMultiple sclerosisRheumatoid arthritisCentral nervous systemNervous systemSingle nucleotide polymorphismsDevelopment of MSTreatment of RARole of CD6T cell traffickingT cell functionGenetic risk factorsEndothelial cell barrierCD6 geneClinical responseGenetic associationClinical featuresAutoimmune diseasesSynovial cellsRisk factorsTumor necrosisSynovial fibroblastsPossible common mechanismT cellsT lymphocytesLeukocyte trafficking
2012
High salt induces pathogenic Th17 cells and exacerbates autoimmune diseases (60.13)
Kleinewietfeld M, Manzel A, Wu C, Titze J, Kuchroo V, Linker R, Muller D, Hafler D. High salt induces pathogenic Th17 cells and exacerbates autoimmune diseases (60.13). The Journal Of Immunology 2012, 188: 60.13-60.13. DOI: 10.4049/jimmunol.188.supp.60.13.Peer-Reviewed Original ResearchPathogenic Th17 cellsExperimental autoimmune encephalomyelitisEnvironmental risk factorsTh17 cellsAutoimmune diseasesRisk factorsMultiple sclerosisHigh-salt dietHelper T cellsGenetic risk factorsExacerbated inductionAutoimmune encephalomyelitisSalt dietSalt intakeCardiovascular diseaseT cellsSun exposureSevere formDiseaseGenetic factorsDietCertain pathogensInduction of murineInductionPivotal role
2011
Pervasive Sharing of Genetic Effects in Autoimmune Disease
Cotsapas C, Voight BF, Rossin E, Lage K, Neale BM, Wallace C, Abecasis GR, Barrett JC, Behrens T, Cho J, De Jager PL, Elder JT, Graham RR, Gregersen P, Klareskog L, Siminovitch KA, van Heel DA, Wijmenga C, Worthington J, Todd JA, Hafler DA, Rich SS, Daly MJ, . Pervasive Sharing of Genetic Effects in Autoimmune Disease. PLOS Genetics 2011, 7: e1002254. PMID: 21852963, PMCID: PMC3154137, DOI: 10.1371/journal.pgen.1002254.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsSystemic lupus erythematosusImmune-mediated diseasesType 1 diabetesGenetic risk factorsMajor histocompatibility locusCommon autoimmuneCommon single nucleotide polymorphismsLupus erythematosusCrohn's diseaseRheumatoid arthritisClinical evidenceMultiple sclerosisAutoimmune diseasesRisk single nucleotide polymorphismsCeliac diseaseInflammatory diseasesRisk factorsMeta-AnalysisDisease riskDiseaseHistocompatibility locusUnderlying mechanismGenetic associationNucleotide polymorphisms
2010
Evidence for CRHR1 in multiple sclerosis using supervised machine learning and meta-analysis in 12 566 individuals
Briggs FB, Bartlett SE, Goldstein BA, Wang J, McCauley JL, Zuvich RL, De Jager PL, Rioux JD, Ivinson AJ, Compston A, Hafler DA, Hauser SL, Oksenberg JR, Sawcer SJ, Pericak-Vance MA, Haines JL, Consortium I, Barcellos L. Evidence for CRHR1 in multiple sclerosis using supervised machine learning and meta-analysis in 12 566 individuals. Human Molecular Genetics 2010, 19: 4286-4295. PMID: 20699326, PMCID: PMC2951862, DOI: 10.1093/hmg/ddq328.Peer-Reviewed Original ResearchConceptsMultiple sclerosisMS casesHealthy controlsCRHR1 variantsCorticotrophin-releasing hormone receptor 1Primary genetic risk factorAdrenal (HPA) axis genesHPA axis regulationGenetic risk factorsHormone receptor 1European ancestryMS pathogenesisSystem involvementRisk factorsUnivariate analysisAxis regulationReceptor 1Axis genesStrong associationCRHR1Lines of evidenceSclerosisDiscovery datasetImportant predictorFurther investigationVariation Within DNA Repair Pathway Genes and Risk of Multiple Sclerosis
Briggs FB, Goldstein BA, McCauley JL, Zuvich RL, De Jager PL, Rioux JD, Ivinson AJ, Compston A, Hafler DA, Hauser SL, Oksenberg JR, Sawcer SJ, Pericak-Vance MA, Haines JL, Barcellos LF, Consortium F. Variation Within DNA Repair Pathway Genes and Risk of Multiple Sclerosis. American Journal Of Epidemiology 2010, 172: 217-224. PMID: 20522537, PMCID: PMC3658128, DOI: 10.1093/aje/kwq086.Peer-Reviewed Original ResearchConceptsDNA repair pathway genesPathway genesMultiple sclerosisExcision repairGeneral transcription factor IIHDouble-strand break repairTranscription factor IIHDNA repair pathwaysNucleotide excision repairRisk of MSBase excision repairPrimary genetic risk factorProminent genetic componentHuman leukocyte antigenComplex autoimmune diseaseSingle nucleotide polymorphism (SNP) variantsCentral nervous systemLogistic regression modelingGenetic risk factorsSingle nucleotide polymorphismsBreak repairRepair pathwaysCandidate genesAutoimmune diseasesGenes
2009
Integration of genetic risk factors into a clinical algorithm for multiple sclerosis susceptibility: a weighted genetic risk score
De Jager PL, Chibnik LB, Cui J, Reischl J, Lehr S, Simon KC, Aubin C, Bauer D, Heubach JF, Sandbrink R, Tyblova M, Lelkova P, the steering committees of the BENEFIT B, Havrdova E, Pohl C, Horakova D, Ascherio A, Hafler D, Karlson E. Integration of genetic risk factors into a clinical algorithm for multiple sclerosis susceptibility: a weighted genetic risk score. The Lancet Neurology 2009, 8: 1111-1119. PMID: 19879194, PMCID: PMC3099419, DOI: 10.1016/s1474-4422(09)70275-3.Peer-Reviewed Original ResearchConceptsWeighted genetic risk scoreEpstein-Barr virusHealth Study IMultiple sclerosisC-statisticRisk factorsGenetic risk scoreImmune responseRisk scoreNurses' Health Study IDiagnosis of MSNon-genetic risk factorsHigh-risk individualsMultiple sclerosis susceptibilityEnvironmental risk factorsGenetic risk factorsNHS cohortDerivation cohortTherapeutic trialsMS riskProspective studyClinical algorithmImportant clinical applicationsHigher oddsSusceptibility loci