Article
Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19.
The Journal of clinical investigation - 15 Jul 2021
Povysil Gundula, Butler-Laporte Guillaume, Shang Ning, Wang Chen, Khan Atlas, Alaamery Manal, Nakanishi Tomoko, Zhou Sirui, Forgetta Vincenzo, Eveleigh Robert Jm, Bourgey Mathieu, Aziz Naveed, Jones Steven Jm, Knoppers Bartha, Scherer Stephen W, Strug Lisa J, Lepage Pierre, Ragoussis Jiannis, Bourque Guillaume, Alghamdi Jahad, Aljawini Nora, Albes Nour, Al-Afghani Hani M, Alghamdi Bader, Almutairi Mansour S, Mahmoud Ebrahim Sabri, Abu-Safieh Leen, El Bardisy Hadeel, Harthi Fawz S Al, Alshareef Abdulraheem, Suliman Bandar Ali, Alqahtani Saleh A, Almalik Abdulaziz, Alrashed May M, Massadeh Salam, Mooser Vincent, Lathrop Mark, Fawzy Mohamed, Arabi Yaseen M, Mbarek Hamdi, Saad Chadi, Al-Muftah Wadha, Jung Junghyun, Mangul Serghei, Badji Radja, Thani Asma Al, Ismail Said I, Gharavi Ali G, Abedalthagafi Malak S, Richards J Brent, Goldstein David B, Kiryluk Krzysztof
Abstract excerpt
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...
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