2011
A knowledge-driven interaction analysis reveals potential neurodegenerative mechanism of multiple sclerosis susceptibility
Bush WS, McCauley JL, DeJager PL, Dudek SM, Hafler DA, Gibson RA, Matthews PM, Kappos L, Naegelin Y, Polman CH, Hauser SL, Oksenberg J, Haines JL, Ritchie MD. A knowledge-driven interaction analysis reveals potential neurodegenerative mechanism of multiple sclerosis susceptibility. Genes & Immunity 2011, 12: 335-340. PMID: 21346779, PMCID: PMC3136581, DOI: 10.1038/gene.2011.3.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesGene-gene interactionsCytoskeleton regulatory proteinsCytoskeletal regulationGenetic architectureGene clusterInteraction analysisSingle-locus analysisGWAS dataRegulatory proteinsBiological contextRelated genesAssociation studiesSusceptibility lociWeak main effectsPhospholipase CGenetic effectsΒ isoformsComplex diseasesBiological mechanismsNeurodegenerative mechanismsNew genetic effectsEpistasisACTN1Genes
2009
Autoimmunity risk alleles in costimulation pathways
Maier LM, Hafler DA. Autoimmunity risk alleles in costimulation pathways. Immunological Reviews 2009, 229: 322-336. PMID: 19426231, DOI: 10.1111/j.1600-065x.2009.00777.x.Peer-Reviewed Original ResearchConceptsTumor necrosis factorGenome-wide association scansHuman autoimmune diseasesAutoimmune diseasesCommon human autoimmune diseasesInducible T-cell costimulator ligandGenetic study designsAssociation scanImmune related genesRelated genesCytotoxic T-lymphocyte antigen-4T-lymphocyte antigen-4Common autoimmune diseaseCell death 1Allelic variantsMember 15Environmental risk factorsDrug designCostimulatory mechanismsMember 4PathwayGenesCostimulation pathwayDeath-1Common pathway