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Record W4285391095 · doi:10.1038/s41588-022-01113-z

Genetic regulation of OAS1 nonsense-mediated decay underlies association with COVID-19 hospitalization in patients of European and African ancestries

2022· article· en· W4285391095 on OpenAlex

Why this work is in the frame

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

affAt least one author lists a Canadian institution in the pinned OpenAlex snapshot.

Bibliographic record

VenueNature Genetics · 2022
Typearticle
Languageen
FieldImmunology and Microbiology
Topicinterferon and immune responses
Canadian institutionsUniversity of TorontoToronto General HospitalUniversity Health Network
FundersDivision of Cancer Epidemiology and Genetics, National Cancer InstituteNational Center for Advancing Translational SciencesNational Institute of Neurological Disorders and StrokeNational Institute of Allergy and Infectious DiseasesNational Institute of General Medical SciencesOxford Nanopore TechnologiesWeill Cornell Medical CollegeNational Institute on AgingCenter for Clinical and Translational Science, University of Alabama at BirminghamEmory Medical Care FoundationDeutsche ForschungsgemeinschaftMassachusetts Consortium on Pathogen ReadinessNational Human Genome Research InstituteHellenic Foundation for Research and InnovationUniversidade de São PauloEuropean CommissionSeoul National University Bundang HospitalWayne and Gladys Valley FoundationUniversity of Alabama at BirminghamKaiser PermanenteUniversity of AlabamaNational Cancer InstituteU.S. Department of Health and Human ServicesGenomic HealthEmory UniversityFrederick National Laboratory for Cancer ResearchNational Institutes of HealthRobert Wood Johnson FoundationEllison Medical Foundation
KeywordsBiologyHaplotypeLocus (genetics)AlleleGeneticsGenome-wide association studySingle-nucleotide polymorphismNonsense-mediated decayDiseaseGeneRNA splicingGenotypeMedicineRNAInternal medicine

Abstract

fetched live from OpenAlex

The chr12q24.13 locus encoding OAS1-OAS3 antiviral proteins has been associated with coronavirus disease 2019 (COVID-19) susceptibility. Here, we report genetic, functional and clinical insights into this locus in relation to COVID-19 severity. In our analysis of patients of European (n = 2,249) and African (n = 835) ancestries with hospitalized versus nonhospitalized COVID-19, the risk of hospitalized disease was associated with a common OAS1 haplotype, which was also associated with reduced severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) clearance in a clinical trial with pegIFN-λ1. Bioinformatic analyses and in vitro studies reveal the functional contribution of two associated OAS1 exonic variants comprising the risk haplotype. Derived human-specific alleles rs10774671-A and rs1131454 -A decrease OAS1 protein abundance through allele-specific regulation of splicing and nonsense-mediated decay (NMD). We conclude that decreased OAS1 expression due to a common haplotype contributes to COVID-19 severity. Our results provide insight into molecular mechanisms through which early treatment with interferons could accelerate SARS-CoV-2 clearance and mitigate against severe COVID-19.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.012
Threshold uncertainty score0.337

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.006
GPT teacher head0.220
Teacher spread0.214 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it