Evidence map›Paper›PMID 37196358›Full record

ReviewAnnual review of biomedical data science2023

Human Genomics of COVID-19 Pneumonia: Contributions of Rare and Common Variants.

Aurélie Cobat, Qian Zhang, COVID Human Genetic Effort, Laurent Abel, Jean-Laurent Casanova, Jacques Fellay

Open access · hybridAbstract readReview
In one paragraph

Review in Annual review of biomedical data science, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
4.1field-weighted citation impact, top 5% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

11 citing papers in PubMed, 21 citations in OpenAlex.

  1. Trial
  2. Article
  3. Article
  4. Article
  5. Review
  6. Association Between Genetic Variants inDiagnostics (Basel, Switzerland) · 2025
    Article
  7. The monogenic landscape of human infectious diseases.The Journal of allergy and clinical immunology · 2025
    Review
  8. Article
  9. Article
  10. Review
  11. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 3 institutions in 3 countries.

Aurélie CobatLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France; email: aurelie.cobat@inserm.fr.
Qian ZhangLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France; email: aurelie.cobat@inserm.fr.
COVID Human Genetic EffortLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France; email: aurelie.cobat@inserm.fr.
Laurent AbelLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France; email: aurelie.cobat@inserm.fr.
Jean-Laurent CasanovaLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France; email: aurelie.cobat@inserm.fr.
Jacques FellaySchool of Life Sciences, École Polytechnique Fédérale de Lausanne, Lausanne, Switzerland; email: jacques.fellay@epfl.ch.
Inserm · FRSIB Swiss Institute of Bioinformatics · CHHoward Hughes Medical Institute · US

Funding

Developing, Demonstrating, and Disseminating Innovative Programs to Achieve Translational SuccessUL1TR001866 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY, KRUEGER, JAMES G · 2016 to 2025
$40.6M
Regulation of IgA class switching in the intestinal mucosaP01AI061093 · NIAID · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI CASANOVA, JEAN-LAURENT · 2004 to 2021
$29.8M
Pharmacology & ImmunoPathology (PIP) CoreU19AI162568 · NIAID · WEILL MEDICAL COLL OF CORNELL UNIV · PI EHRT, SABINE · 2021 to 2025
$13.0M
Study of the Cellular Basis of Herpes Simplex Encephalitis with hPSC-Derived CNS and PNS CellsR01NS072381 · NINDS · UT SOUTHWESTERN MEDICAL CENTER · PI Jean-Laurent Casanova, Shen-Ying Zhang · 2010 to 2026
$10.2M
Monogenic basis of resistance to SARS-CoV2 and predisposition to severe COVID-19R01AI088364 · NIAID · UT SOUTHWESTERN MEDICAL CENTER · PI Jean-Laurent Casanova, Shen-Ying Zhang · 2010 to 2026
$8.7M
Genome-wide search for inborn errors of IL-17 immunity underlying chronic mucocutaneous candidiasisR01AI127564 · NIAID · UT SOUTHWESTERN MEDICAL CENTER · PI Jean-Laurent Casanova · 2017 to 2026
$4.8M
Inborn errors of immunity in patients with life-threatening COVID-19R01AI163029 · NIAID · ROCKEFELLER UNIVERSITY · PI CASANOVA, JEAN-LAURENT, ZHANG, QIAN · 2021 to 2025
$3.7M
Genome-Wide Dissection of Mendelian Susceptibility to Mycobacterial DiseaseR01AI095983 · NIAID · ROCKEFELLER UNIVERSITY · PI BUSTAMANTE, JACINTA, CASANOVA, JEAN-LAURENT · 2021 to 2025
$2.5M
Molecular and cellular basis of epidermodysplasia verruciformisR01AI143810 · NIAID · ROCKEFELLER UNIVERSITY · PI CASANOVA, JEAN-LAURENT, JOUANGUY, EMMANUELLE · 2020 to 2024
$2.0M
Inherited IRF9 deficiency: a novel genetic etiology of severe influenzaR21AI137371 · NIAID · ROCKEFELLER UNIVERSITY · PI CASANOVA, JEAN-LAURENT · 2018 to 2019
$466k
Howard Hughes Medical InstituteNCATS NIH HHS UL1 TR001866NIAID NIH HHS P01 AI061093NIAID NIH HHS R01 AI088364NIAID NIH HHS R01 AI095983NIAID NIH HHS R01 AI127564NIAID NIH HHS R01 AI143810NIAID NIH HHS R01 AI163029NIAID NIH HHS R21 AI137371NIAID NIH HHS U19 AI162568NINDS NIH HHS R01 NS072381
6 · The paper itself

Abstract

SARS-CoV-2 (severe acute respiratory syndrome coronavirus 2) infection is silent or benign in most infected individuals, but causes hypoxemic COVID-19 pneumonia in about 10% of cases. We review studies of the human genetics of life-threatening COVID-19 pneumonia, focusing on both rare and common variants. Large-scale genome-wide association studies have identified more than 20 common loci robustly associated with COVID-19 pneumonia with modest effect sizes, some implicating genes expressed in the lungs or leukocytes. The most robust association, on chromosome 3, concerns a haplotype inherited from Neanderthals. Sequencing studies focusing on rare variants with a strong effect have been particularly successful, identifying inborn errors of type I interferon (IFN) immunity in 1-5% of unvaccinated patients with critical pneumonia, and their autoimmune phenocopy, autoantibodies against type I IFN, in another 15-20% of cases. Our growing understanding of the impact of human genetic variation on immunity to SARS-CoV-2 is enabling health systems to improve protection for individuals and populations.

Indexed as

COVID-19Interferon Type IGenome-Wide Association StudyGenomicsHumansSARS-CoV-2Interferon Type ICOVID-19 pneumoniaGWASinborn errors of immunitySARS-CoV-2type I interferons

Identifiers

PMID37196358
PMCPMC10879986
OpenAlexW4376867137

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.