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Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19.

ABSTRACT: 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 1,864 COVID-19 cases (713 with severe and 1,151 with mild disease) and 15,033 ancestry-matched population controls across 4 independent COVID-19 biobanks. We tested whether rare pLOF variants in these 13 genes were associated with severe COVID-19. We identified only 1 rare pLOF mutation across these genes among 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 found no evidence of association of rare LOF variants in the 13 candidate genes with severe COVID-19 outcomes.

SUBMITTER: Povysil G 

PROVIDER: S-EPMC8279578 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature

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Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19.

Povysil Gundula G   Butler-Laporte Guillaume G   Shang Ning N   Wang Chen C   Khan Atlas A   Alaamery Manal M   Nakanishi Tomoko T   Zhou Sirui S   Forgetta Vincenzo V   Eveleigh Robert Jm RJ   Bourgey Mathieu M   Aziz Naveed N   Jones Steven Jm SJ   Knoppers Bartha B   Scherer Stephen W SW   Strug Lisa J LJ   Lepage Pierre P   Ragoussis Jiannis J   Bourque Guillaume G   Alghamdi Jahad J   Aljawini Nora N   Albes Nour N   Al-Afghani Hani M HM   Alghamdi Bader B   Almutairi Mansour S MS   Mahmoud Ebrahim Sabri ES   Abu-Safieh Leen L   El Bardisy Hadeel H   Harthi Fawz S Al FSA   Alshareef Abdulraheem A   Suliman Bandar Ali BA   Alqahtani Saleh A SA   Almalik Abdulaziz A   Alrashed May M MM   Massadeh Salam S   Mooser Vincent V   Lathrop Mark M   Fawzy Mohamed M   Arabi Yaseen M YM   Mbarek Hamdi H   Saad Chadi C   Al-Muftah Wadha W   Jung Junghyun J   Mangul Serghei S   Badji Radja R   Thani Asma Al AA   Ismail Said I SI   Gharavi Ali G AG   Abedalthagafi Malak S MS   Richards J Brent JB   Goldstein David B DB   Kiryluk Krzysztof K  

The Journal of clinical investigation 20210701 14

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 1,864 COVID-19 cases (713 with severe and 1,151 with mild disease) and 15,033 ancestry-matched population controls across 4 independent COVID-19 biobanks. We tested whether rare pLOF variants in these 13 genes were associated with severe COVID-19. We  ...[more]

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2020-07-06 | GSE149689 | GEO