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Functional associations between polymorphic regions of the human 3'IgH locus and COVID-19 disease

Mattia Colucci1, Domenico Frezza2, Giovanni Gambassi3

  • 1Institute for Stem Cell Biology, Regenerative Medicine and Innovative Therapies (ISBReMIT), Fondazione IRCCS Casa Sollievo della Sofferenza, Viale Padre Pio, 7, San Giovanni Rotondo 71013, Italy.

Gene
|June 30, 2022
PubMed

Insights

Genetic variants in COVID-19 patients impact disease severity. A specific allele, enriched in women, may explain sex differences in immune response to SARS-CoV-2 infection.

Area of Science:

  • Immunogenetics
  • COVID-19 Research
  • Human Genetics

Background:

  • Coronavirus Disease 2019 (COVID-19) exhibits notable gender-based differences in severity.
  • The influence of genetic background on COVID-19 clinical outcomes is not well understood.

Purpose of the Study:

  • To investigate the association between genetic variations and COVID-19 severity.
  • To identify potential genetic factors contributing to sex-related differences in disease outcomes.

Main Methods:

  • Blood samples from 192 COVID-19 patients (115 men, 77 women) were analyzed.
  • Allelic distribution of nine Single Nucleotide Polymorphisms (SNPs) in the immunoglobulin heavy chain locus (3'RR-1) was determined.

Main Results:

  • Seven specific haplotypes were identified, linked to varying disease severity and pneumonia occurrence.
  • The *2 allele, containing an Estrogen receptor alpha (ERα) binding site, was more frequent in women with milder COVID-19.

Conclusions:

  • Genetic variants are associated with individual clinical severity in COVID-19.
  • A novel genetic protective factor may explain sex-based differences in SARS-CoV-2 immune response.
Abstract

Keywords:
Allelic polymorphismsCOVID-19 diseaseIgH locusSex differenceshs1,2 enhancer

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