2015
Multiple sclerosis—a quiet revolution
Ransohoff RM, Hafler DA, Lucchinetti CF. Multiple sclerosis—a quiet revolution. Nature Reviews Neurology 2015, 11: 134-142. PMID: 25686758, PMCID: PMC4556342, DOI: 10.1038/nrneurol.2015.14.Peer-Reviewed Original ResearchConceptsTreatment optionsMajor unmet medical needMultiple sclerosis susceptibilityUnmet medical needNeural tissue injuryGenetic variantsMS therapeuticsAcetate therapyMS riskInflammatory aspectsMultiple sclerosisAutoimmune diseasesTreatable diseaseTissue injuryIndividual patientsDisease evolutionClinical phenotypeMedical needPatientsDisease susceptibilityDiseaseGenetic componentSclerosisIFNOptions
2013
Fine-Mapping the Genetic Association of the Major Histocompatibility Complex in Multiple Sclerosis: HLA and Non-HLA Effects
Patsopoulos NA, Barcellos LF, Hintzen RQ, Schaefer C, van Duijn CM, Noble JA, Raj T, , , Gourraud PA, Stranger BE, Oksenberg J, Olsson T, Taylor BV, Sawcer S, Hafler DA, Carrington M, De Jager PL, de Bakker PI. Fine-Mapping the Genetic Association of the Major Histocompatibility Complex in Multiple Sclerosis: HLA and Non-HLA Effects. PLOS Genetics 2013, 9: e1003926. PMID: 24278027, PMCID: PMC3836799, DOI: 10.1371/journal.pgen.1003926.Peer-Reviewed Original ResearchMeSH KeywordsAllelesChromosome MappingGenetic Predisposition to DiseaseGenome-Wide Association StudyHaplotypesHistocompatibility Antigens Class IHLA-DP beta-ChainsHLA-DRB1 ChainsHumansIntracellular Signaling Peptides and ProteinsLinkage DisequilibriumMajor Histocompatibility ComplexMembrane ProteinsMultiple SclerosisPolymorphism, Single NucleotideReceptors, Tumor Necrosis Factor, Type IConceptsHuman leukocyte antigenNon-HLA risk allelesRisk allelesClassical human leukocyte antigenClass IMultiple sclerosis susceptibilityHLA class IIndependent effectsMS susceptibility geneMajor histocompatibility complexMajor histocompatibility complex regionHLA effectMultiple sclerosisLeukocyte antigenHLA-DRB1MS susceptibilityMultiple risk allelesDPB1 allelesClass IIPeptide-binding grooveHistocompatibility complexPolymorphic amino acid positionsTNF geneClassical allelesSusceptibility genes
2010
A 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-valueMHC
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
2005
A whole-genome admixture scan finds a candidate locus for multiple sclerosis susceptibility
Reich D, Patterson N, Jager P, McDonald GJ, Waliszewska A, Tandon A, Lincoln RR, DeLoa C, Fruhan SA, Cabre P, Bera O, Semana G, Kelly MA, Francis DA, Ardlie K, Khan O, Cree BA, Hauser SL, Oksenberg JR, Hafler DA. A whole-genome admixture scan finds a candidate locus for multiple sclerosis susceptibility. Nature Genetics 2005, 37: 1113-1118. PMID: 16186815, DOI: 10.1038/ng1646.Peer-Reviewed Original ResearchConceptsMultiple sclerosisMultiple sclerosis susceptibilityAdmixture scanAfrican-American controlsAfrican American casesDisease riskSclerosisCommon diseaseRisk haplotype