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 investigation
2009
Use of a genetic isolate to identify rare disease variants: C7 on 5p associated with MS
Kallio SP, Jakkula E, Purcell S, Suvela M, Koivisto K, Tienari PJ, Elovaara I, Pirttilä T, Reunanen M, Bronnikov D, Viander M, Meri S, Hillert J, Lundmark F, Harbo HF, Lorentzen Å, De Jager PL, Daly MJ, Hafler DA, Palotie A, Peltonen L, Saarela J. Use of a genetic isolate to identify rare disease variants: C7 on 5p associated with MS. Human Molecular Genetics 2009, 18: 1670-1683. PMID: 19221116, PMCID: PMC2667286, DOI: 10.1093/hmg/ddp073.Peer-Reviewed Original ResearchSoluble IL-2RA Levels in Multiple Sclerosis Subjects and the Effect of Soluble IL-2RA on Immune Responses
Maier LM, Anderson DE, Severson CA, Baecher-Allan C, Healy B, Liu DV, Wittrup KD, De Jager PL, Hafler DA. Soluble IL-2RA Levels in Multiple Sclerosis Subjects and the Effect of Soluble IL-2RA on Immune Responses. The Journal Of Immunology 2009, 182: 1541-1547. PMID: 19155502, PMCID: PMC3992946, DOI: 10.4049/jimmunol.182.3.1541.Peer-Reviewed Original ResearchConceptsMultiple sclerosisIL-2 receptorMS subjectsHealthy controlsOrgan-specific autoimmune disordersChronic systemic inflammationType 1 diabetesT cell proliferationMultiple sclerosis subjectsStrong genetic factorIL-2 signalingSIL-2RaSystemic inflammationAutoimmune disordersImmunological perturbationsAutoimmune diseasesIL-2RAControl subjectsMS casesSerum concentrationsDisease onsetSpecific allelic variantsImmune responseAggressive formDisease risk
2007
Self-antigen tetramers discriminate between myelin autoantibodies to native or denatured protein
O'Connor KC, McLaughlin KA, De Jager PL, Chitnis T, Bettelli E, Xu C, Robinson WH, Cherry SV, Bar-Or A, Banwell B, Fukaura H, Fukazawa T, Tenembaum S, Wong SJ, Tavakoli NP, Idrissova Z, Viglietta V, Rostasy K, Pohl D, Dale RC, Freedman M, Steinman L, Buckle GJ, Kuchroo VK, Hafler DA, Wucherpfennig KW. Self-antigen tetramers discriminate between myelin autoantibodies to native or denatured protein. Nature Medicine 2007, 13: 211-217. PMID: 17237795, PMCID: PMC3429369, DOI: 10.1038/nm1488.Peer-Reviewed Original ResearchConceptsAcute disseminated encephalomyelitisMyelin oligodendrocyte glycoproteinMultiple sclerosisFluorescent-activated cell sortingRole of autoantibodiesExperimental autoimmune encephalomyelitisConformation-independent antibodiesDiscrimination of antibodiesMOG-specific autoantibodiesDisseminated encephalomyelitisMOG peptidesAutoimmune encephalomyelitisOligodendrocyte glycoproteinAutoantibody detectionTarget antigenAutoantibodiesMS casesELISA methodWestern blottingRadioimmunoassayAntibodiesEncephalomyelitisAntigen domainSensitive assayConformation-sensitive antibodies