0000000001003921

AUTHOR

Daniel M. Forton

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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Extrahepatic Morbidity and Mortality of Chronic Hepatitis C

2015

Chronic hepatitis C virus (HCV) infection is associated with several extra-hepatic manifestations. Patients with HCV may develop mixed cryoglobulinemia and its sequelae, ranging from cutaneous and visceral vasculitis to glomerulonephritis and B cell non-Hodgkin’s lymphoma. HCV-infected patients have increased rates of insulin resistance, diabetes and atherosclerosis, which may lead to increased cardiovascular morbidity and mortality. Neurologic manifestations of HCV infection include fatigue and cognitive impairment. The mechanisms causing the extra-hepatic effects of HCV infection are likely multifactorial and may include endocrine effects, HCV replication in extra-hepatic cells, or a heig…

VasculitisLymphomaGlomerulonephritis/epidemiology/virologyLymphoma/epidemiology/virologyHepatitis C virusAlpha interferonHepacivirusddc:616.07Cryoglobulinemia/epidemiology/virologymedicine.disease_causeAntiviral AgentsAntiviral Agents/administration & dosage/pharmacology/therapeutic useHepacivirus/drug effects/pathogenicityLiver diseasechemistry.chemical_compoundGlomerulonephritisDiabetes mellitusRibavirinmedicineHumansGlucose Metabolism Disorders/epidemiology/virologyInterferon alfaGlucose Metabolism Disordersddc:616Hepatologybusiness.industryHepatitis C Chronic/drug therapy/epidemiology/immunology/mortality/virologyRibavirinVasculitis/epidemiology/virologyGastroenterologyInterferon-alphavirus diseasesHepatitis C Chronicmedicine.diseaseCryoglobulinemiadigestive system diseasesCryoglobulinemiachemistryRibavirin/pharmacology/therapeutic useHCVImmunologyMorbiditybusinessVasculitisInterferon-alpha/pharmacology/therapeutic usemedicine.drugGastroenterology
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