Social and Polygenic Risk Factors for Time to Comorbid Diagnoses in Individuals with Substance Use Disorders: A Phenome-Wide Survival Analysis.

Importance: Persons with substance use disorders (SUD) often suffer from additional comorbidities, including psychiatric conditions and physical health problems. Researchers have explored this overlap in electronic health records (EHR) using phenome wide association studies (PheWAS) to characterize how different indicators are related to all conditions in an individual's EHR. However, analyses have been largely cross-sectional in nature.

Demographics, clinical characteristics, and real-world treatment patterns among patients with beta-thalassemia: a retrospective medical record abstraction study.

Background: Beta-thalassemias (BTs) are characterized by deficient or absent synthesis of the beta-globin subunit, leading to anemia. Patient characteristics and treatment patterns in these patients may vary.

Objective: This retrospective study evaluated demographics, clinical characteristics, and treatment patterns in patients with transfusion-dependent BT (TDT) and non-transfusion-dependent BT (NTDT).

Childhood trauma is associated with developmental trajectories of EEG coherence, alcohol-related outcomes, and PTSD symptoms.

Background: Associations between childhood trauma, neurodevelopment, alcohol use disorder (AUD), and posttraumatic stress disorder (PTSD) are understudied during adolescence.

Methods: Using 1652 participants (51.75% female, baseline = 14.

Disease-Linked Regulatory DNA Variants and Homeostatic Transcription Factors in Epidermis.

Identifying noncoding single nucleotide variants ( SNVs ) in regulatory DNA linked to polygenic disease risk, the transcription factors ( TFs ) they bind, and the target genes they dysregulate is a goal in polygenic disease research. Massively parallel reporter gene analysis ( MPRA ) of 3,451 SNVs linked to risk for polygenic skin diseases characterized by disrupted epidermal homeostasis identified 355 differentially active SNVs ( daSNVs ). daSNV target gene analysis, combined with daSNV editing, underscored dysregulated epidermal differentiation as a pathomechanism shared across common polygenic skin diseases.

Polygenic risk for alcohol use disorder affects cellular responses to ethanol exposure in a human microglial cell model.

Polygenic risk scores (PRSs) assess genetic susceptibility to alcohol use disorder (AUD), yet their molecular implications remain underexplored. Neuroimmune interactions, particularly in microglia, are recognized as notable contributors to AUD pathophysiology. We investigated the interplay between AUD PRS and ethanol in human microglia derived from iPSCs from individuals with AUD high-PRS (diagnosed with AUD) or low-PRS (unaffected).