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 responseA Pleiotropic Missense Variant in SLC39A8 Is Associated With Crohn’s Disease and Human Gut Microbiome Composition
Li D, Achkar JP, Haritunians T, Jacobs JP, Hui KY, D'Amato M, Brand S, Radford-Smith G, Halfvarson J, Niess JH, Kugathasan S, Büning C, Schumm LP, Klei L, Ananthakrishnan A, Aumais G, Baidoo L, Dubinsky M, Fiocchi C, Glas J, Milgrom R, Proctor DD, Regueiro M, Simms LA, Stempak JM, Targan SR, Törkvist L, Sharma Y, Devlin B, Borneman J, Hakonarson H, Xavier RJ, Daly M, Brant SR, Rioux JD, Silverberg MS, Cho JH, Braun J, McGovern DP, Duerr RH. A Pleiotropic Missense Variant in SLC39A8 Is Associated With Crohn’s Disease and Human Gut Microbiome Composition. Gastroenterology 2016, 151: 724-732. PMID: 27492617, PMCID: PMC5037008, DOI: 10.1053/j.gastro.2016.06.051.Peer-Reviewed Original ResearchConceptsCrohn's diseaseMissense variantsMicrobiome compositionGut microbiome compositionInflammatory bowel disease lociCD risk allelesIBD controlsCD patientsUlcerative colitisBlood pressureIBD casesSolute carrier family 39Overweight individualsHealthy controlsLavage samplesLipid levelsFunctional genetic variantsCD casesIndependent cohortHuman gut microbiome compositionReplication cohortGut microbiomeAbstractTextRisk allelesDisease