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 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
2009
Phenotypic and Genotypic Characteristics of Inflammatory Bowel Disease in French Canadians: Comparison With a Large North American Repository
Elkadri A, Bitton A, Cohen A, Griffiths A, Deslandres C, Proctor D, McGovern D, Langelier D, Bernard E, Torres E, Wild G, Nguyen G, Jobin G, Aumais G, Steinhart H, Rioux J, Cho J, Bhat M, Silverberg M, Regueiro M, Goyette P, Pare P, Lahaie R, Duerr R, Brant S, Dassopoulos T. Phenotypic and Genotypic Characteristics of Inflammatory Bowel Disease in French Canadians: Comparison With a Large North American Repository. The American Journal Of Gastroenterology 2009, 104: 2233. PMID: 19513023, PMCID: PMC2742627, DOI: 10.1038/ajg.2009.267.Peer-Reviewed Original ResearchConceptsInflammatory bowel diseaseCrohn's diseaseBowel diseaseUlcerative colitisSingle nucleotide polymorphismsManagement of IBDCaucasian IBD populationsSmall bowel diseaseFrench-Canadian patientsExtraintestinal manifestationsCurrent smokersFormer smokersIBD phenotypeIBD populationCD patientsSmoking statusIncreased prevalenceKidney diseaseSurgical historyCaucasian patientsDisease behaviorFamily historyPatientsAnatomical locationDiseaseUlcerative 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