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@ARTICLE{Banday:180679,
author = {A. R. Banday and M. L. Stanifer and O. Florez-Vargas and O.
O. Onabajo and B. W. Papenberg and M. A. Zahoor and L.
Mirabello and T. J. Ring and C.-H. Lee and P. S. Albert and
E. Andreakos and E. Arons and G. Barsh and L. G. Biesecker
and D. L. Boyle and M. S. Brahier and A. Burnett-Hartman and
M. Carrington and E. Chang and P. G. Choe and R. L. Chisholm
and L. M. Colli and C. L. Dalgard and C. M. Dude and J.
Edberg and N. Erdmann and H. S. Feigelson and B. A. Fonseca
and G. S. Firestein and A. J. Gehring and C. Guo$^*$ and M.
Ho and S. Holland and A. A. Hutchinson and H. Im and L. Irby
and M. G. Ison and N. T. Joseph and H. B. Kim and R. J.
Kreitman and B. R. Korf and S. M. Lipkin and S. M. Mahgoub
and I. Mohammed and G. L. Paschoalini and J. A. Pacheco and
M. J. Peluso and D. J. Rader and D. T. Redden and M. D.
Ritchie and B. Rosenblum and M. E. Ross and H. P. S. Anna
and S. A. Savage and S. Sharma and E. Siouti and A. K. Smith
and V. Triantafyllia and J. M. Vargas and J. D. Vargas and
A. Verma and V. Vij and D. R. Wesemann and M. Yeager and X.
Yu and Y. Zhang and S. Boulant$^*$ and S. J. Chanock and J.
J. Feld and L. Prokunina-Olsson},
title = {{G}enetic regulation of {OAS}1 nonsense-mediated decay
underlies association with {COVID}-19 hospitalization in
patients of {E}uropean and {A}frican ancestries.},
journal = {Nature genetics},
volume = {54},
number = {8},
issn = {1061-4036},
address = {London},
publisher = {Macmillan Publishers Limited, part of Springer Nature},
reportid = {DKFZ-2022-01479},
pages = {1103-1116},
year = {2022},
note = {2022 Aug;54(8):1103-1116},
abstract = {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.},
cin = {F140},
ddc = {570},
cid = {I:(DE-He78)F140-20160331},
pnm = {316 - Infektionen, Entzündung und Krebs (POF4-316)},
pid = {G:(DE-HGF)POF4-316},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:35835913},
doi = {10.1038/s41588-022-01113-z},
url = {https://inrepo02.dkfz.de/record/180679},
}