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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 OpenAlexaff
Abdul Rouf Banday, Megan L. Stanifer, Oscar Flórez-Vargas, Olusegun O. Onabajo, Brenen W. Papenberg, Muhammad Atif Zahoor, Timothy J. Ring, Chia‐Han Lee, Paul S. Albert, Evangelos Andreakos, Evgeny Arons, Gregory S. Barsh, Leslie G. Biesecker, David L. Boyle, Mark Brahier, Andrea N. Burnett‐Hartman, Mary Carrington, Euijin Chang, Pyoeng Gyun Choe, Rex L. Chisholm, Leandro M. Colli, Clifton L. Dalgard, Carolynn M. Dude, Jeff Edberg, Nathan Erdmann, Heather Spencer Feigelson, Benedito Antônio Lopes da Fonseca, Gary S. Firestein, Adam J. Gehring, Cuncai Guo, Michelle Ho, Steven M. Holland, Amy Hutchinson, Hogune Im, Les’Shon S. Irby, Michael G. Ison, Naima T. Joseph, Hong Bin Kim, Robert J. Kreitman, Bruce R. Korf, Steven M. Lipkin, Siham Mahgoub, Iman Mohammed, Г. Пасчоалини, Jennifer A. Pacheco, Michael J. Peluso, Daniel J. Rader, David T. Redden, Marylyn D. Ritchie, Brooke Rosenblum, M. Elizabeth Ross, Hanaísa P. Sant Anna, Sharon A. Savage, Sudha Sharma, Eleni Siouti, Alicia K. Smith, Vasiliki Triantafyllia, Joselin M. Vargas, Jose D. Vargas, Anurag Verma, Vibha Vij, Duane R. Wesemann, Meredith Yeager, Xu G. Yu, Yu Zhang, Steeve Boulant, Stephen J. Chanock, Jordan J. Feld, Ludmila Prokunina‐Olsson

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.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.001
Version: metacan-v3-hybrid-931329e0061cValidation 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 score0.003
Threshold uncertainty score0.011

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
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)0.0030.000

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

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations138
Published2022
Admission routes1
Has abstractyes

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