0000000001003921
AUTHOR
Daniel M. Forton
X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis
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…
Extrahepatic Morbidity and Mortality of Chronic Hepatitis C
Chronic hepatitis C virus (HCV) infection is associated with several extra-hepatic manifestations. Patients with HCV may develop mixed cryoglobulinemia and its sequelae, ranging from cutaneous and visceral vasculitis to glomerulonephritis and B cell non-Hodgkin’s lymphoma. HCV-infected patients have increased rates of insulin resistance, diabetes and atherosclerosis, which may lead to increased cardiovascular morbidity and mortality. Neurologic manifestations of HCV infection include fatigue and cognitive impairment. The mechanisms causing the extra-hepatic effects of HCV infection are likely multifactorial and may include endocrine effects, HCV replication in extra-hepatic cells, or a heig…