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

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).

GLOBAL TRANSLATION OF COELIAC DISEASE HISTOLOGY AND OTHER GLUTEN RELATED MICROENTEROPATHY

Introduction Intestinal epithelial cell damages generated by inflammation in coeliac disease (CD) ranges from sub-microscopic to severe architectural distortion. Translation of quantitative morphological changes in intestinal microorgans, like villus/crypt transformation, distribution of inflammatory cells and diagnostic cut offs, is lacking for CD and gluten related micro-enteropathies. Method Investigators from 22 centres, 9 countries of 4 continents, recruited CD patients with Marsh 0-II histology (n=299), NCGS (n=151), and 262 controls. Based on an agreed protocol, epithelial morphology including intraepithelial lymphocyte (IEL) density, villus height and crypt depth were measured in we…

Telemedicine and Remote Screening for COVID-19 in Inflammatory Bowel Disease Patients: Results From the SoCOVID-19 Survey

Gluten Induces Subtle Histological Changes in Duodenal Mucosa of Patients with Non-Coeliac Gluten Sensitivity : A Multicentre Study

Background: Histological changes induced by gluten in the duodenal mucosa of patients with non-coeliac gluten sensitivity (NCGS) are poorly defined. \ud \ud \ud \ud Objectives: To evaluate the structural and inflammatory features of NCGS compared to controls and coeliac disease (CeD) with milder enteropathy (Marsh I-II). \ud \ud \ud \ud Methods: Well-oriented biopsies of 262 control cases with normal gastroscopy and histologic findings, 261 CeD, and 175 NCGS biopsies from 9 contributing countries were examined. Villus height (VH, in μm), crypt depth (CrD, in μm), villus-to-crypt ratios (VCR), IELs (intraepithelial lymphocytes/100 enterocytes), and other relevant histological, serologic, and…

sj-pdf-1-ueg-10.1177_2050640620964132 - Supplemental material for Activities related to inflammatory bowel disease management during and after the coronavirus disease 2019 lockdown in Italy: How to maintain standards of care

Supplemental material, sj-pdf-1-ueg-10.1177_2050640620964132 for Activities related to inflammatory bowel disease management during and after the coronavirus disease 2019 lockdown in Italy: How to maintain standards of care by Simone Saibeni, Ludovica Scucchi, Gabriele Dragoni, Cristina Bezzio, Agnese Miranda, Davide Giuseppe Ribaldone, Angela Bertani, Fabrizio Bossa, Mariangela Allocca, Andrea Buda, Gianmarco Mocci, Alessandra Soriano, Silvia Mazzuoli, Lorenzo Bertani, Flavia Baccini, Erika Loddo, Antonino Carlo Privitera, Alessandro Sartini, Angelo Viscido, Laurino Grossi, Valentina Casini, Viviana Gerardi, Marta Ascolani, Mirko Di Ruscio, Giovanni Casella, Edoardo Savarino, Davide Strade…

Activities related to inflammatory bowel disease management during and after the coronavirus disease 2019 lockdown in Italy: How to maintain standards of care

BACKGROUND AND AIMS: Restructuring activities have been necessary during the lockdown phase of the coronavirus disease 2019 (COVID-19) pandemic. Few data are available on the post-lockdown phase in terms of health-care procedures in inflammatory bowel disease (IBD) care, and no data are available specifically from IBD units. We aimed to investigate how IBD management was restructured during the lockdown phase, the impact of the restructuring on standards of care and how Italian IBD units have managed post-lockdown activities. METHODS: A web-based online survey was conducted in two phases (April and June 2020) among the Italian Group for IBD affiliated units within the entire country. We inv…

Pneumococcal vaccination in celiac disease

Introduction: Celiac disease (CD) is an immune-mediated disorder associated with gluten exposure in genetically predisposed subjects. Areas covered: Infectious disease is one of the causes of morbidity and mortality in CD patients. Invasive streptococcus pneumoniae (pneumococcus) is a particularly dangerous morbid condition in both the general population and celiac patients. Pneumococcal vaccination is the most effective means for its prevention. Expert opinion: In CD, evaluation of spleen function should be useful to select patients who may benefit from vaccination to reduce the risk of pneumococcal disease. Different strategies could be employed: physicians could search for signs of hypos…

Late-onset Crohn's disease: a comparison of disease behaviour and therapy with younger adult patients: the Italian Group for the Study of Inflammatory Bowel Disease 'AGED' study

BACKGROUND Disease phenotype and outcome of late-onset Crohn's disease are still poorly defined. METHODS In this Italian nationwide multicentre retrospective study, patients diagnosed ≥65 years (late-onset) were compared with young adult-onset with 16-39 years and adult-onset Crohn's disease 40-64 years. Data were collected for 3 years following diagnosis. RESULTS A total of 631 patients (late-onset 153, adult-onset 161, young adult-onset 317) were included. Colonic disease was more frequent in late-onset (P < 0005), stenosing behaviour was more frequent than in adult-onset (P < 0003), but fistulising disease was uncommon. Surgery rates were not different between the three age groups. Syste…

X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis

Background &amp; 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 &lt; 5 × 10-4, with the most significant being a signal within the OTUD5 gene (rs3027490; P = 4.80 × 10-6; odds…

An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs.

[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…

sj-pdf-1-ueg-10.1177_2050640620964132 - Supplemental material for Activities related to inflammatory bowel disease management during and after the coronavirus disease 2019 lockdown in Italy: How to maintain standards of care

Supplemental material, sj-pdf-1-ueg-10.1177_2050640620964132 for Activities related to inflammatory bowel disease management during and after the coronavirus disease 2019 lockdown in Italy: How to maintain standards of care by Simone Saibeni, Ludovica Scucchi, Gabriele Dragoni, Cristina Bezzio, Agnese Miranda, Davide Giuseppe Ribaldone, Angela Bertani, Fabrizio Bossa, Mariangela Allocca, Andrea Buda, Gianmarco Mocci, Alessandra Soriano, Silvia Mazzuoli, Lorenzo Bertani, Flavia Baccini, Erika Loddo, Antonino Carlo Privitera, Alessandro Sartini, Angelo Viscido, Laurino Grossi, Valentina Casini, Viviana Gerardi, Marta Ascolani, Mirko Di Ruscio, Giovanni Casella, Edoardo Savarino, Davide Strade…