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

被引：51

作者：

Povysil, Gundula ^{[1
]}

Butler-Laporte, Guillaume ^{[2
,3
]}

Shang, Ning ^{[4
]}

Wang, Chen ^{[4
]}

Khan, Atlas ^{[4
]}

Alaamery, Manal ^{[5
,6
]}

Nakanishi, Tomoko ^{[2
,7
,8
]}

Zhou, Sirui ^{[2
]}

Forgetta, Vincenzo ^{[2
]}

Eveleigh, Robert J. M. ^{[9
,10
]}

Bourgey, Mathieu ^{[9
,10
]}

Aziz, Naveed ^{[11
]}

Jones, Steven J. M. ^{[11
]}

Knoppers, Bartha ^{[11
]}

Scherer, Stephen W. ^{[11
]}

Strug, Lisa J. ^{[11
]}

Lepage, Pierre ^{[12
]}

Ragoussis, Jiannis ^{[7
,12
]}

Bourque, Guillaume ^{[7
,10
,12
]}

Alghamdi, Jahad ^{[13
]}

Aljawini, Nora ^{[14
]}

Albes, Nour ^{[14
]}

Al-Afghani, Hani M. ^{[15
]}

Alghamdi, Bader ^{[5
]}

Almutairi, Mansour S. ^{[5
]}

Mahmoud, Ebrahim Sabri ^{[16
,17
]}

Abu-Safieh, Leen ^{[18
,19
]}

El Bardisy, Hadeel ^{[18
,19
]}

Harthi, Fawz S. Al ^{[18
,19
]}

Alshareef, Abdulraheem ^{[20
]}

Suliman, Bandar Ali ^{[20
]}

Alqahtani, Saleh A. ^{[21
,22
]}

Almalik, Abdulaziz ^{[23
]}

Alrashed, May M. ^{[24
]}

Massadeh, Salam ^{[5
,6
]}

Mooser, Vincent ^{[7
]}

Lathrop, Mark ^{[7
,11
,12
]}

Fawzy, Mohamed ^{[18
,19
]}

Arabi, Yaseen M. ^{[16
,17
]}

Mbarek, Hamdi ^{[25
]}

Saad, Chadi ^{[25
]}

Al-Muftah, Wadha ^{[25
]}

Jung, Junghyun ^{[26
,27
]}

Mangul, Serghei ^{[26
]}

Badji, Radja ^{[25
]}

Al Thani, Asma ^{[25
]}

Ismail, Said I. ^{[25
]}

Gharavi, Ali G. ^{[1
,2
,3
,4
,28
]}

Abedalthagafi, Malak S. ^{[18
,19
]}

Richards, J. Brent ^{[2
,3
,8
,29
]}

机构：

[1] Columbia Univ, Inst Genom Med, New York, NY USA

[2] Lady Davis Inst Med Res, Montreal, PQ, Canada

[3] McGill Univ, Dept Epidemiol Biostat & Occupat Hlth, Montreal, PQ, Canada

[4] Columbia Univ, Vagelos Coll Phys & Surg, Dept Med, Div Nephrol, New York, NY USA

[5] King Saud Bin Abdulaziz Univ Hlth Sci, King Abdullah Int Med Res Ctr, Dev Med Dept, King Abdulaziz Med City,Minist Natl Guard Hlth Af, Riyadh, Saudi Arabia

[6] King Abdulaziz City Sci & Technol, Saudi Human Genome Project, Riyadh, Saudi Arabia

[7] McGill Univ, Dept Human Genet, Montreal, PQ, Canada

[8] Kyoto Univ, Grad Sch Med, Kyoto McGill Int Collaborat Sch Genom Med, Kyoto, Japan

[9] McGill Univ, Canadian Ctr Computat Genom, Montreal, PQ, Canada

[10] McGill Univ, McGill Genome Ctr, Montreal, PQ, Canada

[11] Canadian COVID Genom Network, HostSeq Project, Ottawa, ON, Canada

[12] McGill Univ, Canadian Ctr Computat Genom, Montreal, PQ, Canada

[13] King Saud Bin Abdulaziz Univ Hlth Sci, King Abdullah Int Med Res Ctr, Minist Natl Guard Hlth Affairs, Saudi Biobank, Riyadh, Saudi Arabia

[14] King Abdulaziz City Sci & Technol, Joint Centers Excellence Program, BWH Ctr Excellence Biomed, KACST, Riyadh, Saudi Arabia

[15] Secur Forces Hosp, Minist Interior, Lab Dept, Med Serv, Mecca, Saudi Arabia

[16] King Abdullah Int Med Res Ctr, Minist Natl Guard Hlth Affairs, Riyadh, Saudi Arabia

[17] King Saud Bin Abdulaziz Univ Hlth Sci, Riyadh, Saudi Arabia

[18] King Fahad Med City, Saudi Human Genome Project, Genom Res Dept, Riyadh, Saudi Arabia

[19] King Abdulaziz City Sci & Technol, Riyadh, Saudi Arabia

[20] Taibah Univ, Coll Appl Med Sci, Madina, Saudi Arabia

[21] King Faisal Specialist Hosp & Res Ctr, Liver Transplant Unit, Riyadh, Saudi Arabia

[22] Johns Hopkins Univ, Div Gastroenterol & Hepatol, Baltimore, MD USA

[23] King Abdulaziz City Sci & Technol, Life Sci & Environm Inst, Riyadh, Saudi Arabia

[24] King Saud Univ, Coll Appl Med Sci, Dept Clin Lab Sci, Riyadh, Saudi Arabia

[25] Qatar Fdn, Qatar Fdn Res Dev & Innovat, Qatar Genome Program, Doha, Qatar

[26] Univ Southern Calif, Sch Pharm, Dept Clin Pharm, Los Angeles, CA USA

[27] Univ Southern Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA USA

[28] Columbia Univ, Vagelos Coll Phys & Surg, Dept Med, Ctr Precis Med & Genom, New York, NY USA

[29] Kings Coll London, Dept Twin Res, London, England

[30] Columbia Univ, Dept Genet & Dev, New York, NY USA

来源：

JOURNAL OF CLINICAL INVESTIGATION | 2021年 / 131卷 / 14期

基金：

加拿大健康研究院; 日本学术振兴会;

关键词：

D O I：

10.1172/JCI147834

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

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.

引用

页数：7

共 50 条

[1] Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Matuozzo, Daniela
Talouarn, Estelle
Marchal, Astrid
Zhang, Peng
Manry, Jeremy
Seeleuthner, Yoann
Zhang, Yu
Bolze, Alexandre
Chaldebas, Matthieu
Milisavljevic, Baptiste
Gervais, Adrian
Bastard, Paul
Asano, Takaki
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Barzaghi, Federica
Abolhassani, Hassan
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[J]. GENOME MEDICINE, 2023, 15 (01)
[2] Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
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Estelle Talouarn
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Yu Zhang
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[J]. Genome Medicine, 15
[3] Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
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Estelle Talouarn
Astrid Marchal
Peng Zhang
Jeremy Manry
Yoann Seeleuthner
Yu Zhang
Alexandre Bolze
Matthieu Chaldebas
Baptiste Milisavljevic
Adrian Gervais
Paul Bastard
Takaki Asano
Lucy Bizien
Federica Barzaghi
Hassan Abolhassani
Ahmad Abou Tayoun
Alessandro Aiuti
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Gokhan Aytekin
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Simone Bondesan
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Paola Carrera
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Loubna El Zein
Carlos Flores
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Rabih Halwani
Selda Hancerli
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Nevin Hatipoğlu
Adem Karbuz
Sevgi Keles
Christèle Kyheng
Rafael Leon-Lopez
Jose Luis Franco
[J]. Genome Medicine, 16
[4] Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 (vol 15, 22, 2023)
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Talouarn, Estelle
Marchal, Astrid
Zhang, Peng
Manry, Jeremy
Seeleuthner, Yoann
Zhang, Yu
Bolze, Alexandre
Chaldebas, Matthieu
Milisavljevic, Baptiste
Gervais, Adrian
Bastard, Paul
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Casari, Giorgio
Chaibi, Khalil
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Covill, Laura E.
Delmonte, Ottavia M.
Zein, Loubna El
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Gregersen, Peter K.
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Haerynck, Filomeen
Halwani, Rabih
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Hammarstroem, Lennart
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Karbuz, Adem
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[J]. GENOME MEDICINE, 2024, 16 (01)
[5] Association of rare predicted loss-of-function variants of influenza-related type I IFN genes with critical COVID-19 pneumonia
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[J]. JOURNAL OF CLINICAL INVESTIGATION, 2021, 131 (15):
[6] Association of rare predicted loss-of-function variants of influenza-related type I IFN genes with critical COVID-19 pneumonia. Reply
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Butler-Laporte, Guillaume
Gharavi, Ali G.
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Goldstein, David B.
Kiryluk, Krzysztof
[J]. JOURNAL OF CLINICAL INVESTIGATION, 2021, 131 (15):
[7] Rare loss-of-function variants may underlie pneumonia in COVID-19 patients
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[J]. GENETICS IN MEDICINE, 2020,
[9] Rare Variants in Inborn Errors of Immunity Genes Associated With Covid-19 Severity
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[10] COVID-19: Rare variants increase the risk of severe COVID-19
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