Related Experiment Video

Updated: Nov 9, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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Genetic justification of severe COVID-19 using a rigorous algorithm

Eleni Gavriilaki1, Panagiotis G Asteris2, Tasoula Touloumenidou1

  • 1Hematology Department - BMT Unit, G Papanicolaou Hospital, Thessaloniki, Greece.

Clinical Immunology (Orlando, Fla.)
|April 12, 2021
PubMed

Insights

Genetic factors like ADAMTS13, C3, and CFH variants are linked to severe COVID-19 and ICU admission. Identifying these genetic susceptibilities may guide targeted treatments for high-risk patients.

Area of Science:

  • Immunogenetics
  • Infectious Diseases
  • Hematology

Background:

  • Severe COVID-19 (coronavirus disease 19) involves excessive complement system activation, similar to complement-mediated thrombotic microangiopathy (TMA).
  • Genetic predisposition may influence COVID-19 severity, mirroring patterns observed in TMA.

Purpose of the Study:

  • To investigate genetic susceptibility in severe COVID-19 patients.
  • To determine if genetic variants are associated with disease severity, specifically ICU hospitalization.

Main Methods:

  • Analysis of genetic and clinical data from 97 hospitalized COVID-19 patients.
  • Targeted next-generation sequencing to identify variants in ADAMTS13, C3, and complement factor H (CFH).

Main Results:

  • ADAMTS13 variants were found in 49 patients; C3 variants in 21, and CFH variants in 34.
  • A combination of these variants was independently associated with ICU hospitalization (p=0.022).
  • Specific combinations, like rs1042580 (thrombomodulin) with absence of rs800292 (CFH), correlated with no ICU need.

Conclusions:

  • Genetic variations in complement-related genes and ADAMTS13 are associated with severe COVID-19 and ICU admission.
  • This highlights a potential patient subgroup that could benefit from early complement inhibitor therapy.
  • Observed gender differences in variant distribution warrant further investigation.

Keywords:
COVID-19ComplementEculizumabGenetic susceptibilityRigorous algorithmSARS-CoV2

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