Artikel: Functional associations between polymorphic regions of the human 3′IgH locus and COVID-19 disease
2022
Abstract: The pandemic diffusion of Coronavirus Disease 2019 (COVID-19) has highlighted significant gender-related differences in disease severity. Despite several hypotheses being proposed, how the genetic background of COVID-19 patients might impact clinical ... ...
| Abstract | The pandemic diffusion of Coronavirus Disease 2019 (COVID-19) has highlighted significant gender-related differences in disease severity. Despite several hypotheses being proposed, how the genetic background of COVID-19 patients might impact clinical outcomes remains largely unknown. We collected blood samples from 192 COVID-19 patients (115 men, 77 women, mean age 67 ± 19 years) admitted between March and June 2020 at two different hospital centers in Italy, and determined the allelic distribution of nine Single Nucleotide Polymorphisms (SNPs), located at the 3′Regulatory Region (3′RR)-1 in the immunoglobulin (Ig) heavy chain locus, including *1 and *2 alleles of polymorphic hs1.2 enhancer region. In COVID-19 patients, the genotyped SNPs exhibited strong Linkage Disequilibrium and produced 7 specific haplotypes, associated to different degrees of disease severity, including the occurrence of pneumonia. Additionally, the allele *2, which comprises a DNA binding site for the Estrogen receptor alpha (ERα) in the polymorphic enhancer hs1.2 of 3′RR-1, was significantly enriched in women with a less severe disease. These findings document genetic variants associated to individual clinical severity of COVID-19 disease. Most specifically, a novel genetic protective factor was identified that might explain the sex-related differences in immune response to Sars-COV-2 infection in humans. |
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| Schlagwörter | COVID-19 infection ; DNA ; Severe acute respiratory syndrome coronavirus 2 ; alleles ; blood ; disease severity ; estrogen receptors ; genetic background ; genotyping ; haplotypes ; hospitals ; humans ; immune response ; immunoglobulins ; linkage disequilibrium ; loci ; pandemic ; pneumonia ; Italy |
| Sprache | Englisch |
| Erscheinungsverlauf | 2022-0905 |
| Erscheinungsort | Elsevier B.V. |
| Dokumenttyp | Artikel |
| ZDB-ID | 391792-7 |
| ISSN | 1879-0038 ; 0378-1119 |
| ISSN (online) | 1879-0038 |
| ISSN | 0378-1119 |
| DOI | 10.1016/j.gene.2022.146698 |
| Datenquelle | NAL Katalog (AGRICOLA) |
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