0000000000124675

AUTHOR

Maria Consiglia Bragazzi

showing 4 related works from this author

Primary biliary cholangitis: perception and expectation of illness

2022

Unlabelled: An important tool to explore personal experience of symptoms, treatment and clinical outcome is stratification of illness perception in patients affected by PBC. Aim: To assess the perception of illness in a cohort of Italian patients with PBC. Methods: Between June and December 2019, a specific questionnaire was administered to a pool of 210 patients from 7 tertiary Italian centers, in order to identify and assess the patient's past history, symptoms and their impact on the quality of life, follow-up, treatment and perceived satisfaction of patients toward the provided care. Results: Fatigue, pruritus, and abdominal discomfort and sicca syndrome were present in 50.4%, 45%, 30.4…

Quality of lifeMotivationHepatologyCholangitisLiver Cirrhosis BiliaryGastroenterologyIllness perceptionHumansPerceptionPBCQuestionnaire.Fatigue
researchProduct

Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.

2010

A genome-wide association screen for primary biliary cirrhosis risk alleles was performed in an Italian cohort. The results from the Italian cohort replicated IL12A and IL12RB associations, and a combined meta-analysis using a Canadian dataset identified newly associated loci at SPIB (P = 7.9 × 10−11, odds ratio (OR) = 1.46), IRF5-TNPO3 (P = 2.8 × 10−10, OR = 1.63) and 17q12-21 (P = 1.7 × 10−10, OR = 1.38).

Liver CirrhosisOncologyCanadamedicine.medical_specialtyCirrhosisEuropean Continental Ancestry GroupLOCIPRIMARY BILIARY CIRRHOSIS; GENOME WIDE ASSOCIATION; LOCIGenome-wide association studyLocus (genetics)genetics Genome Genome-Wide Association Study Humans Interferon Regulatory Factors Liver CirrhosiBiologyBiliary Meta-Analysis as Topic Odds RatioWhite PeopleArticleGENOME WIDE ASSOCIATIONAlleles Canada European Continental Ancestry Groupprimary biliary cirrhosiPrimary biliary cirrhosisMeta-Analysis as TopicMED/12 - GASTROENTEROLOGIAIL12AInternal medicineOdds RatioGeneticsmedicineHumansAllelegenomeAlleles Canada European Continental Ancestry Group; genetics Genome Genome-Wide Association Study Humans Interferon Regulatory Factors Liver Cirrhosis; Biliary Meta-Analysis as Topic Odds RatioAllelesprimary biliary cirrhosis genome-wide meta-analysesGeneticsLiver Cirrhosis BiliaryBiliaryOdds ratiomedicine.diseasePrimary biliary cirrhosisInterferon Regulatory FactorsCohortGenome-Wide Association Study
researchProduct

Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis

2018

ObjectivePrimary sclerosing cholangitis (PSC) is a genetically complex, inflammatory bile duct disease of largely unknown aetiology often leading to liver transplantation or death. Little is known about the genetic contribution to the severity and progression of PSC. The aim of this study is to identify genetic variants associated with PSC disease progression and development of complications.DesignWe collected standardised PSC subphenotypes in a large cohort of 3402 patients with PSC. After quality control, we combined 130 422 single nucleotide polymorphisms of all patients—obtained using the Illumina immunochip—with their disease subphenotypes. Using logistic regression and Cox proportiona…

Male0301 basic medicineOncologyCandidate geneCholangitismedicine.medical_treatmentMedizinTrasplantament hepàticGenome-wide association studyKaplan-Meier EstimateLIVER FIBROSISLiver transplantationBioinformaticsSclerosingOral and gastrointestinalPrimary sclerosing cholangitis; genetics; liver transplantationCohort StudiesACTIVATION0302 clinical medicineMED/12 - GASTROENTEROLOGIAMULTIPLE2.1 Biological and endogenous factorsEPIDEMIOLOGYgeneticsAetiologyCIRRHOSISliver transplantationBilious diseases and biliousnessPrimary sclerosing cholangitisLiver Diseasedigestive oral and skin physiologyGastroenterologySingle NucleotidePrimary sclerosing cholangitiMiddle Aged3. Good healthULCERATIVE-COLITISDisease ProgressionFemale030211 gastroenterology & hepatologyAdultmedicine.medical_specialtyCholangitis SclerosingChronic Liver Disease and CirrhosisClinical SciencesMalalties del tracte biliarSingle-nucleotide polymorphismHEPATIC STELLATE CELLSPolymorphism Single NucleotideInternational PSC Study GroupArticlePrimary sclerosing cholangitisPaediatrics and Reproductive Medicine03 medical and health sciencesRare DiseasesClinical ResearchInternal medicineGeneticsmedicineHumansPolymorphismGENOME-WIDE ASSOCIATIONAlleleDigestive Diseases - (Gallbladder)Survival analysisProportional Hazards ModelsMALIGNANCYThe UK PSC ConsortiumTransplantationGastroenterology & Hepatologybusiness.industryProportional hazards modelmedicine.diseaseRISK LOCILogistic Models030104 developmental biology3121 General medicine internal medicine and other clinical medicinegeneticHepatic transplantationThrombospondinsDigestive DiseasesbusinessGenèticaGut
researchProduct

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
researchProduct