2016
A 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
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
2003
Role of Interstitial Cells of Cajal in Motility Disorders of the Bowel
Jain D, Moussa K, Tandon M, Culpepper-Morgan J, Proctor DD. Role of Interstitial Cells of Cajal in Motility Disorders of the Bowel. The American Journal Of Gastroenterology 2003, 98: ajg2003146. PMID: 12650797, DOI: 10.1111/j.1572-0241.2003.07295.x.Peer-Reviewed Original ResearchConceptsMechanical bowel obstructionMotility disordersBowel obstructionNormal controlsInterstitial cellsPolyclonal c-kit antibodyAge-matched normal controlsBowel motility disordersNeonatal meconium ileusSpecific histological changesAdministration of drugsIndirect immunoperoxidase methodC-kit antibodyBowel dysmotilityMechanical obstructionSystemic disordersMeconium ileusC-kit receptorHistological changesNeuropathic formPatientsPatchy areasImmunoperoxidase methodMasson's trichromeIntestinal tract