2023
Common genetic factors among autoimmune diseases
Harroud A, Hafler D. Common genetic factors among autoimmune diseases. Science 2023, 380: 485-490. PMID: 37141355, DOI: 10.1126/science.adg2992.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesMultimodal genomic dataEvolutionary originDisease geneticsPolygenic basisPrecise geneSelection pressureGenomic dataMolecular consequencesAssociation studiesGenetic studiesFunctional experimentsGenetic effectsRisk variantsCommon genetic factorsAncient populationsCurrent understandingPotential therapeutic implicationsGenetic factorsKey immune cellsGenesGeneticsWidespread sharingImmune cellsValuable insights
2018
Enhanced astrocyte responses are driven by a genetic risk allele associated with multiple sclerosis
Ponath G, Lincoln MR, Levine-Ritterman M, Park C, Dahlawi S, Mubarak M, Sumida T, Airas L, Zhang S, Isitan C, Nguyen TD, Raine CS, Hafler DA, Pitt D. Enhanced astrocyte responses are driven by a genetic risk allele associated with multiple sclerosis. Nature Communications 2018, 9: 5337. PMID: 30559390, PMCID: PMC6297228, DOI: 10.1038/s41467-018-07785-8.Peer-Reviewed Original ResearchConceptsMultiple sclerosisAstrocyte responseRisk variantsLocal autoimmune inflammationPeripheral immune cellsCentral nervous system cellsPeripheral immune systemCultured human astrocytesNervous system cellsNF-κB signalingCNS accessDysfunctional lymphocytesAstroglial functionAutoimmune inflammationLymphocytic infiltrateLymphocyte recruitmentImmune cellsGenetic risk allelesGenetic risk variantsMS lesionsMS susceptibilityHuman astrocytesLesion sizeImmune systemSystem cells
2012
Immune-mediated disease genetics: the shared basis of pathogenesis
Cotsapas C, Hafler DA. Immune-mediated disease genetics: the shared basis of pathogenesis. Trends In Immunology 2012, 34: 22-26. PMID: 23031829, DOI: 10.1016/j.it.2012.09.001.Peer-Reviewed Original ResearchConceptsRecent genetic studiesGenomic lociDisease geneticsMolecular basisGenetic studiesMolecular causesMolecular defectsRisk variantsSpecific pathwaysBasis of pathogenesisActionable discoveriesGeneticsInflammatory diseasesOverall symptomatologyDisease heterogeneityLociVariantsDiseasePathwayPathogenesisHigh rateRational approachDiscoveryPathobiology
2008
The developing mosaic of autoimmune disease risk
Maier LM, Hafler DA. The developing mosaic of autoimmune disease risk. Nature Genetics 2008, 40: 131-132. PMID: 18227869, DOI: 10.1038/ng0208-131.Peer-Reviewed Original Research