0000000000217971

AUTHOR

Piero Portincasa

0000-0001-5359-1471

showing 5 related works from this author

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
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Bloating is associated with worse quality of life, treatment satisfaction, and treatment responsiveness among patients with constipation-predominant …

2016

Background The management of bloating is unclear and its relationship with patients' well-being and treatment satisfaction independent of other abdominal symptoms is uncharacterized. We evaluated the association of bloating with patient-reported outcomes. Methods Thirty-nine centers for functional gastrointestinal disorders joined the laxative inadequate relief survey. We enrolled 2203 consecutive outpatients with functional constipation (FC) or constipation-predominant irritable bowel syndrome (IBS-C) in two cross-sectional waves. Both wave 1 and 2 included the SF-12, the patient assessment of constipation-symptoms (PAC-SYM), and the treatment satisfaction questionnaire for medication (TSQ…

AdultMaleQuality of lifemedicine.medical_specialtyConstipationCross-sectional studyPhysiologyBloating; Chronic constipation; Functional constipation; Irritable bowel syndrome; Patient-reported outcomes; Quality of life; Treatment satisfaction; Physiology; Endocrine and Autonomic Systems; GastroenterologyBloating; Chronic constipation; Functional constipation; Irritable bowel syndrome; Patient-reported outcomes; Quality of life; Treatment satisfaction; Adult; Constipation; Cross-Sectional Studies; Female; Flatulence; Humans; Irritable Bowel Syndrome; Male; Middle Aged; Prevalence; Quality of Life; Surveys and QuestionnairesEndocrine and Autonomic System03 medical and health sciences0302 clinical medicineBloatingQuality of lifeSurveys and QuestionnairesInternal medicinePrevalencemedicineFlatulenceHumansIrritable bowel syndromePatient-reported outcomeChronic constipationSettore MED/12 - GastroenterologiaPatient-reported outcomesTreatment satisfactionBloating; Chronic constipation; Functional constipation; Irritable bowel syndrome; Patient-reported outcomes; Quality of life; Treatment satisfaction; Adult; Constipation; Cross-Sectional Studies; Female; Flatulence; Humans; Irritable Bowel Syndrome; Male; Middle Aged; Prevalence; Quality of Life; Surveys and Questionnaires; Physiology; Endocrine and Autonomic Systems; GastroenterologyEndocrine and Autonomic Systemsbusiness.industryChronic constipationBloatingSettore MED/09 - MEDICINA INTERNAGastroenterologyMiddle Agedmedicine.diseaseIrritable bowel syndromeSettore MED/18 - Chirurgia GeneraleCross-Sectional StudiesTolerability030220 oncology & carcinogenesisPhysical therapyFunctional constipationFemale030211 gastroenterology & hepatologymedicine.symptombusinessConstipationFunctional constipation
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Drug Prescription and Delirium in Older Inpatients: Results From the Nationwide Multicenter Italian Delirium Day 2015-2016

2019

Objective This study aimed to evaluate the association between polypharmacy and delirium, the association of specific drug categories with delirium, and the differences in drug-delirium association between medical and surgical units and according to dementia diagnosis. Methods Data were collected during 2 waves of Delirium Day, a multicenter delirium prevalence study including patients (aged 65 years or older) admitted to acute and long-term care wards in Italy (2015-2016); in this study, only patients enrolled in acute hospital wards were selected (n = 4,133). Delirium was assessed according to score on the 4 "A's" Test. Prescriptions were classified by main drug categories; polypharmacy w…

Malediagnosismedications0302 clinical medicinepreventionAged 80 and over; Delirium; Drug Prescriptions; Female; Hospital Departments; Humans; Male; Prevalence; Polypharmacy; Prescription Drugs80 and overPrevalenceMedicineLS4_4030212 general & internal medicineAcute hospitalmedia_commonAged 80 and overConfoundingelderly patients hip fracture hospitalized patients prediction rule risk factor dementia events medications prevention diagnosisrisk-factorrisk factorhip fracturePsychiatry and Mental HealthFemalemedicine.symptomeventsDrugmedicine.medical_specialtyPrescription Drugshospitalized-patientsmedia_common.quotation_subjectMEDLINEHospital DepartmentsSocio-culturaleelderly-patientselderly patientsbehavioral disciplines and activitiesDrug Prescriptions03 medical and health sciencesInternal medicinemental disordersDementiaHumansMedical prescriptionprediction ruleAgedPolypharmacybusiness.industryhospitalized patientsDeliriummedicine.diseasenervous system diseasesPolypharmacyDeliriumelderly-patients; hip fracture; hospitalized-patients; prediction rule; risk-factor; dementia; events; medications; prevention; diagnosisbusiness030217 neurology & neurosurgerydementia
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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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An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs.

2021

[BACKGROUND & AIMS] Primary biliary cholangitis (PBC) is a chronic liver disease in which autoimmune destruction of the small intra-hepatic bile ducts eventually leads to cirrhosis. Many patients have inadequate response to licensed medications, motivating the search for novel therapies. Previous genome-wide association studies (GWAS) and meta-analyses (GWMA) of PBC have identified numerous risk loci for this condition, providing insight into its aetiology. We undertook the largest GWMA of PBC to date, aiming to identify additional risk loci and prioritise candidate genes for in silico drug efficacy screening. [METHODS] We combined new and existing genotype data for 10, 516 cases and 20, 77…

Liver CirrhosisALSPAC; ERN RARE-LIVER; Genomic co-localization; Network-based in silico drug efficacy screening; UK-PBC0301 basic medicineCandidate geneALSPAC; ERN RARE-LIVER; Genomic co-localization; Network-based in silico drug efficacy screening; UK-PBC; Genome-Wide Association Study; Humans; Liver Cirrhosis BiliaryItalian PBC Study GroupLD SCORE REGRESSIONJapan-PBC-GWAS ConsortiumGenome-wide association studyLocus (genetics)DiseaseSUSCEPTIBILITYPBCChronic liver diseaseBioinformaticsGENETIC ASSOCIATION1117 Public Health and Health Services03 medical and health sciences0302 clinical medicineUK-PBC ConsortiumGenotypeHumansMedicineNetwork-based in silico drug efficacy screeningGenetic associationScience & TechnologyGastroenterology & HepatologyHepatologyLiver Cirrhosis Biliarybusiness.industryBiliaryChinese PBC Consortium1103 Clinical SciencesALSPACmedicine.diseasePBC Consortia030104 developmental biologyMeta-analysisERN RARE LIVER030211 gastroenterology & hepatologyGenomic co-localizationUK-PBCUS PBC ConsortiumERN RARE-LIVERCanadian PBC ConsortiumbusinessLife Sciences & BiomedicineGenome-Wide Association StudyHuman
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