2009
Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor
Ban M, Goris A, Lorentzen Å, Baker A, Mihalova T, Ingram G, Booth DR, Heard RN, Stewart GJ, Bogaert E, Dubois B, Harbo HF, Celius EG, Spurkland A, Strange R, Hawkins C, Robertson NP, Dudbridge F, Wason J, De Jager PL, Hafler D, Rioux JD, Ivinson AJ, McCauley JL, Pericak-Vance M, Oksenberg JR, Hauser SL, Sexton D, Haines J, Sawcer S. Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor. European Journal Of Human Genetics 2009, 17: 1309-1313. PMID: 19293837, PMCID: PMC2782567, DOI: 10.1038/ejhg.2009.41.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesNon-synonymous single nucleotide polymorphismsRecent genome-wide association studiesLevel of phosphorylationAmino acid substitutionsTyrosine kinase 2 geneKinase 2 geneSingle-nucleotide polymorphism resultsSingle nucleotide polymorphismsKinase domainMultiple sclerosis susceptibility genesAssociation studiesAcid substitutionsFunctional roleSusceptibility genesNucleotide polymorphismsPolymorphism resultsTrio familiesReplication analysisGenesLociTYK2Susceptibility factorsPhosphorylationMultiple sclerosis
2007
A second major histocompatibility complex susceptibility locus for multiple sclerosis
Yeo TW, De Jager PL, Gregory SG, Barcellos LF, Walton A, Goris A, Fenoglio C, Ban M, Taylor CJ, Goodman RS, Walsh E, Wolfish CS, Horton R, Traherne J, Beck S, Trowsdale J, Caillier SJ, Ivinson AJ, Green T, Pobywajlo S, Lander ES, Pericak-Vance MA, Haines JL, Daly MJ, Oksenberg JR, Hauser SL, Compston A, Hafler DA, Rioux JD, Sawcer S, . A second major histocompatibility complex susceptibility locus for multiple sclerosis. Annals Of Neurology 2007, 61: 228-236. PMID: 17252545, PMCID: PMC2737610, DOI: 10.1002/ana.21063.Peer-Reviewed Original ResearchConceptsMajor histocompatibility complexMultiple sclerosisHLA-C geneHLA-DRB1 geneHuman leukocyte antigen (HLA) typingResidual associationHLA-DRB1 locusComplex susceptibility lociTight linkage disequilibriumControl subjectsAntigen typingProtective effectSclerosisClass II regionHistocompatibility complexHLA lociRisk haplotypeClassical HLA lociSingle nucleotide polymorphismsIndependent effectsChromosome 6p21AssociationNucleotide polymorphismsTrio familiesSusceptibility loci