Common and rare variants in complement genes as biomarkers of COVID-19 infection and severity. A lesson to learn for emerging pathogens - Summary - MDSpire

Common and rare variants in complement genes as biomarkers of COVID-19 infection and severity. A lesson to learn for emerging pathogens

  • By

  • María Eugenia De La Morena-Barrio

  • Ana Van Den Rym

  • Olga Escorial Sanz

  • Fernando Corvillo

  • Rosario García-Sánchez

  • Laura González-Sánchez

  • Adrián Muñoz-Barrera

  • Rafaela González-Montelongo

  • José Miguel Lorenzo-Salazar

  • Carlos Flores

  • Ana de Andrés-Martín

  • Carlos Rodríguez-Gallego

  • Luis Allende

  • Laia Alsina

  • Silvia Sánchez-Ramón

  • Eduardo López-Collazo

  • Margarita López-Trascasa

  • Pilar Sánchez-Corral

  • Rebeca Pérez de Diego

  • Javier Corral de la Calle

  • Alberto López-Lera

  • June 11, 2026

  • 0 min

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Objective:

To analyze the association of genetic variants in complement pathway genes with susceptibility to severe COVID-19 and its clinical complications, including ARDS and other related conditions.

Approach:
    Key Findings:
    • CFHR4 rs7417769 and CFH rs1061170 polymorphisms are associated with protection against ARDS, suggesting potential therapeutic targets.
    • C3 rs2230199 and MASP2 rs7255087 polymorphisms correlate with low and high C3 levels, respectively, indicating their role in disease severity.
    • Over-representation of C1R rs117402032 and C8A rs143523574 polymorphisms suggests a link between defective complement activation and increased SARS-CoV-2 infection rates, highlighting the need for further research.
    Interpretation:

    Common variants in complement genes modulate susceptibility to severe COVID-19 and its complications, indicating potential genetic biomarkers for future infectious threats.

    Limitations:
    • Study focused on a specific cohort from Spain, which may limit generalizability to other populations and ethnicities.
    • Analysis based on whole-exome sequencing may not capture all relevant genetic variations, potentially overlooking other significant factors.
    Conclusion:

    The study identifies genetic variants that could serve as biomarkers for susceptibility to severe COVID-19 and highlights the critical role of the complement system in the disease's pathogenesis, suggesting avenues for future research and therapeutic strategies.

Original Source(s)

Common and rare variants in complement genes as biomarkers of COVID-19 infection and severity. A lesson to learn for emerging pathogens

  • by María Eugenia De La Morena-Barrio, Ana Van Den Rym, Olga Escorial Sanz, Fernando Corvillo, Rosario García-Sánchez, Laura González-Sánchez, Adrián Muñoz-Barrera, Rafaela González-Montelongo, José Miguel Lorenzo-Salazar, Carlos Flores, Ana de Andrés-Martín, Carlos Rodríguez-Gallego, Luis Allende, Laia Alsina, Silvia Sánchez-Ramón, Eduardo López-Collazo, Margarita López-Trascasa, Pilar Sánchez-Corral, Rebeca Pérez de Diego, Javier Corral de la Calle, Alberto López-Lera

  • June 11, 2026

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