Search results for " Primary biliary cirrhosis"

showing 3 items of 3 documents

Clinical Course and Genetic Susceptibility of Primary Biliary Cirrhosis: Analysis of a Prospective Cohort

2016

Background: Natural history of primary biliary cirrhosis (PBC) is partially characterized in patients from the Mediterranean area whose genetic background differs from that of Northern Europeans. Objectives: We aimed to describe genetic susceptibility and clinical course of PBC in patients from Southern Italy. Methods: Socio-demographic, clinical, biochemical and histological data at diagnosis as well as disease progression of 81 PBC consecutive patients were collected. All subjects were treated with Ursodeoxycholic acid at a dose of 15 mg/kg. HLA class II DRB1 alleles were compared with those of 237 healthy control subjects. IL28B genotyping for IL28B rs12979860 C/T and rs80899917 G/T was …

0301 basic medicinemedicine.medical_specialtyPrimary biliary cirrhosimedicine.medical_treatmentLiver transplantationGastroenterology03 medical and health sciences0302 clinical medicinePrimary biliary cirrhosisGeneticInternal medicineGenotypemedicineGenetic predispositionProspective cohort studySettore MED/04 - Patologia GeneraleAutoimmune diseaseSettore MED/12 - GastroenterologiaPrimary Biliary CirrhosisHepatologybusiness.industrymedicine.diseaseKowsarTransplantation030104 developmental biologyInfectious DiseasesGenetic; Natural history; Primary biliary cirrhosis; Hepatology; Infectious Diseases030211 gastroenterology & hepatologybusinessResearch ArticleNatural HistoryHepatitis Monthly
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International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways

2015

Primary biliary cirrhosis (PBC) is a classical autoimmune liver disease for which effective immunomodulatory therapy is lacking. Here we perform meta-analyses of discovery data sets from genome-wide association studies of European subjects (n=2,764 cases and 10,475 controls) followed by validation genotyping in an independent cohort (n=3,716 cases and 4,261 controls). We discover and validate six previously unknown risk loci for PBC (Pcombined<5 × 10−8) and used pathway analysis to identify JAK-STAT/IL12/IL27 signalling and cytokine–cytokine pathways, for which relevant therapies exist.

Liver CirrhosisGenetics and Molecular Biology (all)pathogenesirisk assessment EMTREE medical terms: Articlegenetic associationgenotypeEMTREE drug terms: chemokine receptor CCR6genetic riskBiochemistrymeta-analysiprimary biliary cirrhosichemokine receptor CCR6 [EMTREE drug terms]single nucleotide polymorphismgenetic variabilityArticle [risk assessment EMTREE medical terms]Liver Cirrhosis BiliarypathogenesisBiliaryChemistry (all)STAT protein GEOBASE Subject Index: disease treatmentcohort analysisgenome wide meta analysis PBCsignal transductiongene locuscohort analysiCBPArticle*Physics and Astronomy (all)macrophage inflammatory protein 3alphaHumanscontrolled studyhumaninterleukin 27genomeBiochemistry Genetics and Molecular Biology (all)meta analysiinterleukin 12p40EMTREE drug terms: chemokine receptor CCR6; interleukin 12; interleukin 12p40; interleukin 27; Janus kinase; macrophage inflammatory protein 3alpha; STAT protein GEOBASE Subject Index: disease treatment; genome; meta-analysis; pathogen; risk assessment EMTREE medical terms: Article; cohort analysis; controlled study; gene locus; genetic association; genetic predisposition; genetic risk; genetic variability; genotype; human; major clinical study; meta analysis; pathogenesis; primary biliary cirrhosis; signal transduction; single nucleotide polymorphismmajor clinical studyprimary biliary cirrhosismeta-analysisdisease treatment [STAT protein GEOBASE Subject Index]Biochemistry Genetics and Molecular Biology (all); Chemistry (all); Physics and Astronomy (all)Humans; Liver Cirrhosis; Biliary; Genome-Wide Association Study; Biochemistry; Genetics and Molecular Biology (all); Chemistry (all); Physics and Astronomy (all)gene locuinterleukin 12genetic predispositionJanus kinasepathogenmeta analysisHumans; Liver Cirrhosis Biliary; Genome-Wide Association Study; Biochemistry Genetics and Molecular Biology (all); Chemistry (all); Physics and Astronomy (all)Genome-Wide Association Study
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Intrahepatic IgG/IgM plasma cells ratio helps in classifying autoimmune liver diseases.

2010

Abstract Background/Aim Plasma cells infiltrate in the liver is a prototype lesion of autoimmune liver diseases. The possible role of plasma cells isotyping (IgM and IgG) in the liver in the diagnostic definition of autoimmune liver disease, and particularly in variant syndromes such as autoimmune cholangitis and the primary biliary cirrhosis/autoimmune hepatitis overlap syndrome, is less defined. Methods We analysed the clinical, serological and histological features of 83 patients with autoimmune liver disease (40 primary biliary cirrhosis, 20 autoimmune hepatitis, 13 primary sclerosing cholangitis, 4 autoimmune cholangitis and 6 overlap syndrome) compared to 34 patients with chronic hepa…

AdultMalePathologymedicine.medical_specialtyLiver kidney microsomal type 1 antibodyCholangitisBiopsyCholangitis SclerosingPlasma CellsAutoimmune hepatitisAutoimmune cholangitis Autoimmune hepatitis IgG plasma cells IgM plasma cells Immunostaining Liver biopsy Overlap syndromes Portal infiltrate Primary biliary cirrhosisSettore MED/08 - Anatomia PatologicaAutoimmune DiseasesPrimary sclerosing cholangitisSex FactorsPrimary biliary cirrhosismedicineHumansAgedAutoantibodiesHepatitisSettore MED/12 - GastroenterologiaHepatologymedicine.diagnostic_testLiver Cirrhosis Biliarybusiness.industryGastroenterologyAlanine TransaminaseOverlap syndromegamma-GlutamyltransferaseMiddle AgedAlkaline Phosphatasemedicine.diseaseHepatitis CHepatitis AutoimmuneImmunoglobulin MLiverImmunoglobulin GLiver biopsyFemaleBile DuctsbusinessAnti-mitochondrial antibody
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