0000000001004048

AUTHOR

S. E. O'donnell

showing 2 related works from this author

X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis

2021

Background & aims: Genome-wide association studies in primary biliary cholangitis (PBC) have failed to find X chromosome (chrX) variants associated with the disease. Here, we specifically explore the chrX contribution to PBC, a sexually dimorphic complex autoimmune disease. Methods: We performed a chrX-wide association study, including genotype data from 5 genome-wide association studies (from Italy, United Kingdom, Canada, China, and Japan; 5244 case patients and 11,875 control individuals). Results: Single-marker association analyses found approximately 100 loci displaying P < 5 × 10-4, with the most significant being a signal within the OTUD5 gene (rs3027490; P = 4.80 × 10-6; odds…

Canadian-US PBC Consortium0301 basic medicineMaleLinkage disequilibriumGenome-wide association studyDiseasePBCSettore MED/03 - GENETICA MEDICALinkage Disequilibrium0302 clinical medicineUK-PBC ConsortiumGenotypeMitochondrial Precursor Protein Import Complex ProteinsItalian PBC Genetics Study GroupOdds RatioX-Wide Association StudyJapan PBC-GWAS ConsortiumX chromosomeGeneticsLiver Cirrhosis BiliaryGastroenterologyForkhead Transcription FactorsDNA-Binding ProteinsShal Potassium Channels030211 gastroenterology & hepatologyFemaleAdultMonosaccharide Transport ProteinsSuperenhancerLocus (genetics)Single-nucleotide polymorphismBiologyProtein Serine-Threonine KinasesPolymorphism Single NucleotideArticleWhite People03 medical and health sciencesAsian PeopleProto-Oncogene ProteinsEndopeptidasesHumansCell LineageGenetic Predisposition to DiseaseMeta-analysiGenetic associationChromosomes Human XGastroenterology & HepatologyHepatology1103 Clinical SciencesMeta-analysis030104 developmental biologyGenetic Loci1114 Paediatrics and Reproductive MedicineMeta-analysis; Superenhancer; X-Wide Association Study1109 NeurosciencesCarrier ProteinsGenome-Wide Association Study
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Real-world experience with obeticholic acid in patients with primary biliary cholangitis

2021

Background & aims Obeticholic acid (OCA) is the second-line treatment approved for patients with primary biliary cholangitis (PBC) and an inadequate response or intolerance to ursodeoxycholic acid. We aimed to evaluate the effectiveness and safety of OCA under real-world conditions. Methods Patients were recruited into the Italian PBC Registry, a multicentre, observational cohort study that monitors patients with PBC at national level. The primary endpoint was the biochemical response according to Poise criteria; the secondary endpoint was the biochemical response according to normal range criteria, defined as normal levels of bilirubin, alkaline phosphatase (ALP), and alanine aminotransfer…

upper limit of normalCirrhosisALTAMAAutoimmunityantinuclear antibodiesULNPBCGastroenterologyUDCASettore MED/12ULN upper limit of normalobeticholic acidaRR adjusted risk ratio.CRFs case record formAST aspartate transferaseClinical endpointGGT gamma-glutamyl transferaseQCprimary biliary cholangitisGastroenterologyUrsodeoxycholic acidANATCCCirrhosisCholestasiTIPSTreatment Completer CohortANA antinuclear antibodiemedicine.medical_specialtyRRUDCA ursodeoxycholic acidTIPS transjugular intrahepatic portosystemic shuntOCACirrhosiALP alkaline phosphataseautoimmune hepatitismedicine.diseasedigestive system diseasesDiscontinuationKeywords: AIH autoimmune hepatitiQC quality controlchemistrygamma-glutamyl transferaserandomised controlled trialelectronic data captureantimitochondrial antibodiesaspartate transferaseAutoimmune hepatitischemistry.chemical_compoundAIHCRFsImmunology and Allergyadjusted risk ratioANA antinuclear antibodiesRR risk ratioOverall cohortALT alanine transferaseAMA antimitochondrial antibodieCholestasisCRFs case record formsObeticholic acidOverlap PBC-AIHursodeoxycholic acidOCA obeticholic acidTolerabilityalkaline phosphataseRCTResearch Articlemedicine.drugcase record formsContext (language use)AMA antimitochondrial antibodiesInternal medicineEDC electronic data capturetransjugular intrahepatic portosystemic shuntInternal MedicinemedicineRCT randomised controlled trialaRR adjusted risk ratioOClcsh:RC799-869quality controlalanine transferaseASTaRRHepatologybusiness.industryAutoimmunity; Cholestasis; Cirrhosis; Overlap PBC-AIHAIH autoimmune hepatitisTCC Treatment Completer CohortPBC primary biliary cholangitiGGTrisk ratioOC Overall cohortALPlcsh:Diseases of the digestive system. GastroenterologyPBC primary biliary cholangitisbusinessEDC
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