Burden of illness for patients with primary biliary cholangitis: an observational study of clinical characteristics and healthcare resource utilization.

To evaluate the clinical characteristics and healthcare resource utilization for acute care and its costs for patients with primary biliary cholangitis (PBC) with or without cirrhosis. This retrospective observational cohort study was conducted using two datasets (Komodo's Healthcare Map™ [Komodo Health] and Optum Clinformatics Data Mart [CDM] database) between 2015 and 2023. Patients (≥18 years) with PBC were identified based on ≥1 inpatient or ≥2 outpatient claims.

Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations.

Schizophrenia (SCZ) is a chronic mental illness and among the most debilitating conditions encountered in medical practice. A recent landmark SCZ study of the protein-coding regions of the genome identified a causal role for ten genes and a concentration of rare variant signals in evolutionarily constrained genes. This recent study-and most other large-scale human genetics studies-was mainly composed of individuals of European (EUR) ancestry, and the generalizability of the findings in non-EUR populations remains unclear.

Using phenotype risk scores to enhance gene discovery for generalized anxiety disorder and posttraumatic stress disorder.

UK Biobank (UKB) is a key contributor in mental health genome-wide association studies (GWAS) but only ~31% of participants completed the Mental Health Questionnaire ("MHQ responders"). We predicted generalized anxiety disorder (GAD), posttraumatic stress disorder (PTSD), and major depression symptoms using elastic net regression in the ~69% of UKB participants lacking MHQ data ("MHQ non-responders"; N = 50%; N = 50%), maximizing the informative sample for these traits. MHQ responders were more likely to be female, from higher socioeconomic positions, and less anxious than non-responders.