2011
Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data
Wang JH, Pappas D, De Jager PL, Pelletier D, de Bakker PI, Kappos L, Polman CH, Australian and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene), Chibnik LB, Hafler DA, Matthews PM, Hauser SL, Baranzini SE, Oksenberg JR. Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data. Genome Medicine 2011, 3: 3. PMID: 21244703, PMCID: PMC3092088, DOI: 10.1186/gm217.Peer-Reviewed Original ResearchGenome-wide association studiesGenome-wide association dataDAVID functional annotation toolMS geneticsAssociation dataFunctional annotation toolAvailable genome-wide association dataRecent genome-wide association studiesPathway enrichment analysisNovel genetic associationsNervous system developmentPolygenic modelCumulative genetic riskGene OntologyGWAS datasetsEnrichment analysisGenetic riskAssociation studiesDisease locusCell adhesionSignificant enrichmentNeuronal signalingAnalysis of covarianceIonotropic glutamate receptorsGenetic association
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