[저자] Gundula Povysil, Guillaume Butler-Laporte, Ning Shang, Chen Wang, Atlas Khan, Manal Alaamery, Tomoko Nakanishi, Sirui Zhou, Vincenzo Forgetta, Robert Jm Eveleigh, Mathieu Bourgey, Naveed Aziz, Steven Jm 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
[Category] SARS, 변종,
[Article Type] Article
[Source] PMC
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.
Keywords: Genetic variation; Genetics; Infectious disease.
All Keywords
【저자키워드】 Infectious disease, genetics, Genetic variation, 【초록키워드】 COVID-19, whole-genome sequencing, Mutation, severe COVID-19, variant, Infectious disease, genetics, outcomes, Genetic variation, Control, pathway, severe cases, Mild, disease, Mild disease, association, TLR3, Evidence, IRF7, candidate gene, COVID-19 cases, Type I IFN, evidence of, no evidence of, COVID-19 case, pLOF, ancestry, Severe case, loss-of-function, independent, pLOF variants, tested, predicted, performed, explain, LOF, pLOF variant, with mild disease, 【제목키워드】 Immunity, variant, Type I IFN, loss-of-function,
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최근 보고서에 따르면 TLR3 및 IRF7 의존성 I형 IFN 경로의 13개 후보 유전자에 걸쳐 드물게 예측되는 기능 상실(pLOF) 변이가 심각한 COVID-19 사례의 최대 3.5%를 설명합니다. 우리는 4개의 독립적인 COVID-19 바이오뱅크에서 1,864명의 COVID-19 사례(심각한 713명 및 경증 1,151명)와 15,033명의 조상 일치 인구 통제에 대해 전체 엑솜 또는 전체 게놈 시퀀싱을 수행했습니다. 우리는 이 13개 유전자의 희귀 pLOF 변이가 심각한 COVID-19와 관련이 있는지 여부를 테스트했습니다. 우리는 심각한 COVID-19가 있는 713명의 사례 중 이 유전자에서 1개의 드문 pLOF 돌연변이만 확인했으며 인구 대조군 또는 경증의 COVID-19 사례와 비교하여 심각한 사례에서 pLOF가 농축되지 않는 것을 관찰했습니다. 우리는 심각한 COVID-19 결과와 13개의 후보 유전자에서 희귀 LOF 변이의 연관성에 대한 증거를 찾지 못했습니다.
{{ 키워드: }} 유전적 변이; 유전학; 감염성 질병.