Search results for " Genotype"
showing 10 items of 205 documents
Analysis of the influence of the PrP genotype on the litter size in Polish sheep using classification trees and logistic regression
2014
The relation between prion protein (PrP) genotype class and litter size was analysed in Polish Merino, Black-headed, Ile de France and Berrichon du Cher sheep in Poland. Litter size was analysed with the classification tree technique and multiple logistic regression for effects of breed, age of ewe, PrP genotype, litter size of ewe at her birth, and at her rearing and year of ewe's birth. The resulting classification tree was 6-level deep and contained 21 leaves. Age, breed and year of birth were more important determinants of litter size than PrP genotype. Importance of PrP genotype in the tree development was 0.560 relative to age of ewe. While the logistic regression analysis showed that…
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.
Hepatitis C in the elderly: a multicentre cross-sectional study by the Italian Association for the Study of the Liver
2012
Background: The prevalence of hepatitis C virus infection increases with advancing age, but elderly hepatitis C virus patients remain an understudied population. Aim: To define the virological, epidemiological and clinical profiles of Italian outpatients aged 65 years and over infected by hepatitis C virus. Methods: We evaluated 1544 anti-hepatitis C virus positive patients aged >=65 years referred to 34 Italian outpatient specialty clinics over a two-year period. Results: The study population included 1134 (73%) early elderly (65-74 years) and 410 (27%) late elderly patients (>=75 years). Late elderly subjects were less likely to have their virus genotyped, their viral load assessed or a h…
PNPLA3 rs738409 I748M is associated with steatohepatitis in 434 non-obese subjects with hepatitis C
2015
Summary Background The PNPLA3/Adiponutrin rs738409 C/G single nucleotide polymorphism is associated with the severity of steatosis, steatohepatitis and fibrosis in patients with non-alcoholic fatty liver disease, as well as the severity of steatosis and fibrosis in patients with chronic hepatitis C (CHC). Aim To test in genotype 1(G1)-CHC patients, the putative association between the PNPLA3 variant and histological features of steatohepatitis, as well as their impact on the severity of fibrosis. Methods Four hundred and thirty-four consecutively biopsied Caucasian G1-CHC patients were genotyped for PNPLA3 rs738409, its effect evaluated by using an additive model. Histological features of s…
HCV genotype 1 subtypes (1a and 1b): similarities and differences in clinical features and therapeutic outcome.
2015
Aim: To evaluate similarities and differences in HCV-1 subtypes 1a and 1b in the presenting clinical features and the response to peg-interferon and ribavirin (Peg/RIBA).Patients and methods: A total of 1,233 naïve patients with HCV genotype-1 infection, 159 (13 %) with subtype 1a and 1,074 (87 %) with subtype 1b were treated with Peg-IFN/RIBA at 12 Italian centers. Covariates included in the logistic model were age, gender, BMI, serum alanine aminotransferase, serum gamma-glutamiltranspeptidase (γGT), platelets counts, liver fibrosis, the occurrence of type 2 diabetes, baseline viremia, and IL28B genotype.Results: At multivariate analysis, baseline characteristics differentiating patients …
High efficacy of direct-acting anti-viral agents in hepatitis C virus-infected cirrhotic patients with successfully treated hepatocellular carcinoma
2018
Background: The efficacy of direct-acting anti-viral (DAA) therapy in patients with a history of hepatocellular carcinoma (HCC) is unknown. Aim: We prospectively evaluated whether previously treated HCC affects DAA efficacy in a large real-life cohort of cirrhotic patients. Methods: From January to December 2015 all consecutive HCV mono-infected patients with cirrhosis and/or history of HCC attending 10 Italian tertiary liver centres were enrolled. Baseline characteristics and response to therapy were recorded. 1927 patients were enrolled (mean age: 62.1 10.9 years; 1.205 males). Genotype 1 was the most frequent (67.9%) followed by genotypes 3 (12.4%), 2 (11.2%) and 4 (8.6%). 88.4% and 10.9…
Long-term course of chronic hepatitis C in children: from viral clearance to end-stage liver disease.
2008
Background & Aims: The natural course of chronic hepatitis C (CHC) in children is not well understood. The aim of this study was to assess the long-term course of CHC in a large sample of otherwise healthy children. Methods: From 1990 to 2005, 504 consecutive antihepatitis C virus (HCV)-positive children were enrolled at 12 centers of a national observatory and were followed up retrospectively/prospectively. Results: Putative exposure was perinatal in 283 (56.2%) cases, parenteral in 158 (31.3%), and unknown in 63 (12.5%). At baseline, 477 (94.6%) cases were HCV RNA seropositive, 118 (24.7%) of which were treated with standard interferon α. Ten years after putative exposure, the outcome in …
High efficacy and safety of triple therapy in HCV genotype 1 and moderate fibrosis: a multicenter study of clinical practice in Spain.
2015
Background and rational. Telaprevir-based therapy (TBT) has been extensively evaluated in clinical trials. So we designed a study to compare the efficacy and safety of TBT between patients with moderate fibrosis and those suffering from advanced fibrosis in clinical practice. A multicenter observational and ambispective study was conducted. It included 582 patients with chronic hepatitis C genotype 1, 214 with fibrosis F2, and 368 with F3/F4 (F3: 148; F4: 220). Results. The mean patient age was 55 years, 67% male. Type of prior response was 22% naive, 57% relapsers, and 21% partial/null responders, 69% had high viral load (> 800,000 IU/mL). HCV genotypes were 1a (19%), 1b (69%), and 1 (12%)…
Economic Consequences of Investing in Anti-HCV Antiviral Treatment from the Italian NHS Perspective: A Real-World-Based Analysis of PITER Data
2019
OBJECTIVE:\ud We estimated the cost consequence of Italian National Health System (NHS) investment in direct-acting antiviral (DAA) therapy according to hepatitis C virus (HCV) treatment access policies in Italy.\ud \ud METHODS:\ud A multistate, 20-year time horizon Markov model of HCV liver disease progression was developed. Fibrosis stage, age and genotype distributions were derived from the Italian Platform for the Study of Viral Hepatitis Therapies (PITER) cohort. The treatment efficacy, disease progression probabilities and direct costs in each health state were obtained from the literature. The break-even point in time (BPT) was defined as the period of time required for the cumulativ…
Antioxidant activity and phenolic composition in Pomegranate (Punica granatum, L.) genotypes from south Italy by UHPLC/Orbitrap-MS approach
2018
Background: Pomegranate fruits are a rich source of polyphenols with numerous health-promoting effects. Pomegranate juices of five genotypes (‘Mollar’, ‘Kingdom’, ‘Dente di Cavallo’, and two old populations ‘Francofonte’ and ‘Santa Tecla’) were evaluated regarding anthocyanin and non-anthocyanin phenolic contents using ultrahigh performance liquid chromatography (UHPLC)–Orbitrap-mass spectrometry (MS). Moreover, total antioxidant activity (TAA) was evaluated using a 2,2′-azinobis(3-ethylbenzothiazoline-6-sulfonic acid) diammonium salt (ABTS) assay. Results: Twenty-three phenolic compounds were identified. Cyanidin-3,5-O-diglucoside and pelargonidin-3,5-O-diglucoside were the most representa…