Pulse Brain · Growing Health Evidence Index
Peer-reviewed

Alternative splicing in lung influences COVID-19 severity and respiratory diseases

Tomoko Nakanishi, Julian Willett, Yossi Farjoun, Richard J. Allen, Beatriz Guillén‐Guío, Darin Adra, Sirui Zhou, J. Brent Richards

Nature Communications · 2023

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Summary

Alternative splicing generates functional diversity in isoforms, impacting immune response to infection. Here, we evaluate the causal role of alternative splicing in COVID-19 severity and susceptibility by applying two-sample Mendelian randomization to cis-splicing quantitative trait loci and the results from COVID-19 Host Genetics Initiative. We identify that alternative splicing in lung, rather than total expression of OAS1, ATP11A, DPP9 and NPNT, is associated with COVID-19 severity. MUC1 and PMF1 splicing is associated with COVID-19 susceptibility. Colocalization analyses support a shared genetic mechanism between COVID-19 severity with idiopathic pulmonary fibrosis at the ATP11A and DPP9 loci, and with chronic obstructive lung diseases at the NPNT locus. Last, we show that ATP11A, DPP

Source type
Peer-reviewed study
DOI
10.1038/s41467-023-41912-4
Catalogue ID
SNmoixo3fu-r6k9gn
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