Showing papers by "Jennifer L. Moran published in 2022"
TL;DR: In this article , a two-stage genome-wide association study of up to 76,755 individuals with schizophrenia and 243,649 control individuals was conducted, and the authors reported common variant associations at 287 distinct genomic loci.
Abstract: Schizophrenia has a heritability of 60–80%1, much of which is attributable to common risk alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with schizophrenia and 243,649 control individuals, we report common variant associations at 287 distinct genomic loci. Associations were concentrated in genes that are expressed in excitatory and inhibitory neurons of the central nervous system, but not in other tissues or cell types. Using fine-mapping and functional genomic data, we identify 120 genes (106 protein-coding) that are likely to underpin associations at some of these loci, including 16 genes with credible causal non-synonymous or untranslated region variation. We also implicate fundamental processes related to neuronal function, including synaptic organization, differentiation and transmission. Fine-mapped candidates were enriched for genes associated with rare disruptive coding variants in people with schizophrenia, including the glutamate receptor subunit GRIN2A and transcription factor SP4, and were also enriched for genes implicated by such variants in neurodevelopmental disorders. We identify biological processes relevant to schizophrenia pathophysiology; show convergence of common and rare variant associations in schizophrenia and neurodevelopmental disorders; and provide a resource of prioritized genes and variants to advance mechanistic studies. A genome-wide association study including over 76,000 individuals with schizophrenia and over 243,000 control individuals identifies common variant associations at 287 genomic loci, and further fine-mapping analyses highlight the importance of genes involved in synaptic processes.
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Abstract: Introduction: Post-hospitalization heart failure (HF) disease management represents an important area of focus in preventing morbidity, mortality, and excess healthcare costs. Disease management clinics have been historically successful in reducing complications, but complication reduction in the uninsured setting has not been thoroughly examined. The purpose of this project is to conduct a post-hospitalization disease management clinic pilot study of uninsured HF patients. Methods: This is a pilot study of HF patients following a recent hospitalization (within 30 days). Uninsured patients were offered enrollment in the disease management clinic during or immediately following hospitalization for a primary HF diagnosis at University of Texas Medical Branch at Galveston. The enrollment period was from January 2021 - December 2021. The disease management program included twice-weekly visits with a variety of healthcare professionals, including nurses, physicians, occupational therapists, social workers, pharmacists, and counselors. Patients were scheduled for a maximum of 16 visits (2 months of follow-up) post-hospitalization before returning to usual care. Patients who attended at least the introductory appointment and one follow-up appointment within 30 days of discharge were considered enrolled. The primary outcome is 30-day readmission, while secondary outcomes included feasibility measures (proportion enrolled, number of visits attended). Results: Of 59 patients referred, 47 (80%) were enrolled. Just 4 patients (8.5%, 95% CI: 2.5%, 20.5%) were readmitted at 30 days, while 4 of 12 (33%, 95% CI: 13.6%, 61.2%) were readmitted at 30 days in those who did not enroll. Program participants were readmitted significantly less frequently than national readmission rate estimates (23%, p=0.02). Conclusion: The CHFC3 program is feasible and holds promise for materially reducing 30-day readmissions for HF complications in the uninsured. A randomized controlled trial is warranted to further explore this intervention.