Failure to replicate the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19
Hani M. Al-Afghani,
Ebrahim Sabri Mahmoud,
Leen Abu Safie,
Hadeel El Bardisy,
Fawz S. Al Harthi,
Bandar Ali Suliman,
May M. Alrashed,
Yaseen M Arabi,
Asma Al Thani,
Said I. Ismai,
Ali G Gharavi,
Malak S. Abedalthagafi,
J Brent Richards,
David B. Goldstein,
Posted 20 Dec 2020
medRxiv DOI: 10.1101/2020.12.18.20248226
Posted 20 Dec 2020
A recent report found that rare predicted loss-of-function (pLOF) variants across 13 candidate genes in TLR3- and IRF7-dependent type I IFN pathways explain up to 3.5% of severe COVID-19 cases. We performed whole-exome or whole-genome sequencing of 1,934 COVID-19 cases (713 with severe and 1,221 with mild disease) and 15,251 ancestry-matched population controls across four independent COVID-19 biobanks. We then tested if rare pLOF variants in these 13 genes were associated with severe COVID-19. We identified only one rare pLOF mutation across these genes amongst 713 cases with severe COVID-19 and observed no enrichment of pLOFs in severe cases compared to population controls or mild COVID-19 cases. We find no evidence of association of rare loss-of-function variants in the proposed 13 candidate genes with severe COVID-19 outcomes.
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