2016
JAK2 Disease-Risk Variants Are Gain of Function and JAK Signaling Threshold Determines Innate Receptor-Induced Proinflammatory Cytokine Secretion in Macrophages
Hedl M, Proctor DD, Abraham C. JAK2 Disease-Risk Variants Are Gain of Function and JAK Signaling Threshold Determines Innate Receptor-Induced Proinflammatory Cytokine Secretion in Macrophages. The Journal Of Immunology 2016, 197: 3695-3704. PMID: 27664279, PMCID: PMC5127452, DOI: 10.4049/jimmunol.1600845.Peer-Reviewed Original ResearchConceptsInflammatory bowel diseaseAnti-inflammatory cytokinesImmune-mediated diseasesOligomerization domain 2Proinflammatory cytokinesMyeloid cellsJAK2 expressionJAK inhibitorsIntestinal myeloid cellsThymic stromal lymphopoietinUlcerative colitis patientsProinflammatory cytokine secretionPattern recognition receptorsHuman myeloid cellsLower JAK2Cell typesColitis patientsBowel diseaseIL-10IL-22Peripheral macrophagesIL-4Cytokine secretionAA carriersDecreased response
2009
Ulcerative colitis–risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study
Silverberg MS, Cho JH, Rioux JD, McGovern DP, Wu J, Annese V, Achkar JP, Goyette P, Scott R, Xu W, Barmada MM, Klei L, Daly MJ, Abraham C, Bayless TM, Bossa F, Griffiths AM, Ippoliti AF, Lahaie RG, Latiano A, Paré P, Proctor DD, Regueiro MD, Steinhart AH, Targan SR, Schumm LP, Kistner EO, Lee AT, Gregersen PK, Rotter JI, Brant SR, Taylor KD, Roeder K, Duerr RH. Ulcerative colitis–risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. Nature Genetics 2009, 41: 216-220. PMID: 19122664, PMCID: PMC2652837, DOI: 10.1038/ng.275.Peer-Reviewed Original ResearchMeSH KeywordsButyrophilinsCase-Control StudiesChromosomes, Human, Pair 1Chromosomes, Human, Pair 12Chromosomes, Human, Pair 6Colitis, UlcerativeFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHLA-DQ AntigensHLA-DQ beta-ChainsHumansMaleMembrane GlycoproteinsPolymorphism, Single NucleotideReceptors, InterleukinRecombination, GeneticRisk Factors