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
2008
The expanding genetic overlap between multiple sclerosis and type I diabetes
Booth D, Heard R, Stewart G, Goris A, Dobosi R, Dubois B, Lorentzen Å, Celius E, Harbo H, Spurkland A, Olsson T, Kockum I, Link J, Hillert J, Ban M, Baker A, Sawcer S, Compston A, Mihalova T, Strange R, Hawkins C, Ingram G, Robertson N, De Jager P, Hafler D, Barcellos L, Ivinson A, Pericak-Vance M, Oksenberg J, Hauser S, McCauley J, Sexton D, Haines J. The expanding genetic overlap between multiple sclerosis and type I diabetes. Genes & Immunity 2008, 10: 11-14. PMID: 18987646, PMCID: PMC2718424, DOI: 10.1038/gene.2008.83.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdultAllelesAmino Acid SubstitutionAntigens, Differentiation, T-LymphocyteAustraliaBelgiumCase-Control StudiesConfidence IntervalsDiabetes Mellitus, Type 1FamilyGenetic Predisposition to DiseaseHumansLectins, C-TypeLinkage DisequilibriumMiddle AgedMonosaccharide Transport ProteinsMultiple SclerosisNorwayOdds RatioPolymorphism, Single NucleotideProbabilitySwedenTryptophanUnited KingdomUnited StatesConceptsSingle nucleotide polymorphismsSusceptibility genesAutoimmune susceptibility genesMultiple sclerosis susceptibility genesClustering of autoimmune diseasesAssociated with type I diabetesTrio familiesCD226 geneEvidence of associationNucleotide polymorphismsCLEC16A geneGenetic overlapGenesMultiple sclerosis dataType I diabetesMultiple sclerosisAutoimmune diseasesFamilial clusteringRs12708716CLEC16ARs763361