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

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

doi:10.1172/JCI147834

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

Journal article

Open access

Peer reviewed

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

Gundula Povysil, Guillaume Butler-Laporte, Ning Shang, Chen Wang, Atlas Khan, Manal Alaamery, Tomoko Nakanishi, Sirui Zhou, Vincenzo Forgetta, Robert J.M. Eveleigh, …

The Journal of clinical investigation, Vol.131(14)

15/07/2021

DOI: https://doi.org/10.1172/JCI147834

PMID: 34043590

Abstract

Concise Communication

Genetic variation

Genetics

Infectious disease

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.

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Title: Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19
Creators - without role: Gundula Povysil - King Saud bin Abdulaziz University for Health Sciences
Guillaume Butler-Laporte - King Saud bin Abdulaziz University for Health Sciences
Ning Shang - King Saud bin Abdulaziz University for Health Sciences
Chen Wang - King Saud bin Abdulaziz University for Health Sciences
Atlas Khan - King Saud bin Abdulaziz University for Health Sciences
Manal Alaamery - King Saud bin Abdulaziz University for Health Sciences
Tomoko Nakanishi - King Saud bin Abdulaziz University for Health Sciences
Sirui Zhou - King Saud bin Abdulaziz University for Health Sciences
Vincenzo Forgetta - King Saud bin Abdulaziz University for Health Sciences
Robert J.M. Eveleigh - King Saud bin Abdulaziz University for Health Sciences
Mathieu Bourgey - King Saud bin Abdulaziz University for Health Sciences
Naveed Aziz - King Saud bin Abdulaziz University for Health Sciences
Steven J.M. Jones - King Saud bin Abdulaziz University for Health Sciences
Bartha Knoppers - King Saud bin Abdulaziz University for Health Sciences
Stephen W. Scherer - King Saud bin Abdulaziz University for Health Sciences
Lisa J. Strug - King Saud bin Abdulaziz University for Health Sciences
Pierre Lepage - King Saud bin Abdulaziz University for Health Sciences
Jiannis Ragoussis - King Saud bin Abdulaziz University for Health Sciences
Guillaume Bourque - King Saud bin Abdulaziz University for Health Sciences
Jahad Alghamdi - King Saud bin Abdulaziz University for Health Sciences
Nora Aljawini - King Saud bin Abdulaziz University for Health Sciences
Nour Albes - King Saud bin Abdulaziz University for Health Sciences
Hani M. Al-Afghani - King Saud bin Abdulaziz University for Health Sciences
Bader Alghamdi - King Saud bin Abdulaziz University for Health Sciences
Mansour S. Almutairi - King Saud bin Abdulaziz University for Health Sciences
Ebrahim Sabri Mahmoud - King Saud bin Abdulaziz University for Health Sciences
Leen Abu-Safieh - King Saud bin Abdulaziz University for Health Sciences
Hadeel El Bardisy - King Saud bin Abdulaziz University for Health Sciences
Fawz S. Al Harthi - King Saud bin Abdulaziz University for Health Sciences
Abdulraheem Alshareef - King Saud bin Abdulaziz University for Health Sciences
Bandar Ali Suliman - King Saud bin Abdulaziz University for Health Sciences
Saleh A. Alqahtani - King Saud bin Abdulaziz University for Health Sciences
Abdulaziz Almalik - King Saud bin Abdulaziz University for Health Sciences
May M. Alrashed - King Saud bin Abdulaziz University for Health Sciences
Salam Massadeh - King Saud bin Abdulaziz University for Health Sciences
Vincent Mooser - King Saud bin Abdulaziz University for Health Sciences
Mark Lathrop - King Saud bin Abdulaziz University for Health Sciences
Mohamed Fawzy - King Saud bin Abdulaziz University for Health Sciences
Yaseen M. Arabi - King Saud bin Abdulaziz University for Health Sciences
Hamdi Mbarek - King Saud bin Abdulaziz University for Health Sciences
Chadi Saad - King Saud bin Abdulaziz University for Health Sciences
Wadha Al-Muftah - King Saud bin Abdulaziz University for Health Sciences
Junghyun Jung - King Saud bin Abdulaziz University for Health Sciences
Serghei Mangul - King Saud bin Abdulaziz University for Health Sciences
Radja Badji - King Saud bin Abdulaziz University for Health Sciences
Asma Al Thani - King Saud bin Abdulaziz University for Health Sciences
Said I. Ismail - King Saud bin Abdulaziz University for Health Sciences
Ali G. Gharavi - King Saud bin Abdulaziz University for Health Sciences
Malak S. Abedalthagafi - King Saud bin Abdulaziz University for Health Sciences
J. Brent Richards - King Saud bin Abdulaziz University for Health Sciences
David B. Goldstein - King Saud bin Abdulaziz University for Health Sciences
Krzysztof Kiryluk - King Saud bin Abdulaziz University for Health Sciences
Publication Details: The Journal of clinical investigation, Vol.131(14)
Publisher: American Society for Clinical Investigation
Grant note: UL1TR001873 / ;
Identifiers: 9918660208331
Academic Unit: King Abdulaziz City for Science & Technology; King Saud Bin Abdulaziz University for Health Sciences; King Abdulaziz University
Language: English
Resource Type: Journal article