# Genomic analysis of severe COVID-19 considering or not asthma comorbidity: GWAS insights from the BQC19 cohort

**Authors:** Omayma Amri, Anne-Marie Madore, Anne-Marie Boucher-Lafleur, Catherine Laprise

PMC · DOI: 10.1186/s12864-024-10342-x · 2024-05-16

## TL;DR

This study identifies genetic variants linked to severe COVID-19, both overall and specifically in patients with asthma, offering insights into the genetic basis of disease severity.

## Contribution

The study reveals new genetic variants associated with severe COVID-19, including those specific to patients with asthma comorbidity.

## Key findings

- Seven genetic variants were associated with severe COVID-19 overall.
- Four genetic variants were specifically linked to severe COVID-19 in individuals with asthma.
- The findings enhance understanding of the genetic factors influencing disease severity in relation to asthma.

## Abstract

The severity of COVID-19 is influenced by various factors including the presence of respiratory diseases. Studies have indicated a potential relationship between asthma and COVID-19 severity.

This study aimed to conduct a genome-wide association study (GWAS) to identify genetic and clinical variants associated with the severity of COVID-19, both among patients with and without asthma.

We analyzed data from 2131 samples sourced from the Biobanque québécoise de la COVID-19 (BQC19), with 1499 samples from patients who tested positive for COVID-19. Among these, 1110 exhibited mild-to-moderate symptoms, 389 had severe symptoms, and 58 had asthma. We conducted a comparative analysis of clinical data from individuals in these three groups and GWAS using a logistic regression model. Phenotypic data analysis resulted in the refined covariates integrated into logistic models for genetic studies.

Considering a significance threshold of 1 × 10−6, seven genetic variants were associated with severe COVID-19. These variants were located proximal to five genes: sodium voltage-gated channel alpha subunit 1 (SCN10A), desmoplakin (DSP), RP1 axonemal microtubule associated (RP1), IGF like family member 1 (IGFL1), and docking protein 5 (DOK5). The GWAS comparing individuals with severe COVID-19 with asthma to those without asthma revealed four genetic variants in transmembrane protein with EGF like and two follistatin like domains 2 (TMEFF2) and huntingtin interacting protein-1 (HIP1) genes.

This study provides significant insights into the genetic profiles of patients with severe forms of the disease, whether accompanied by asthma or not. These findings enhance our comprehension of the genetic factors that affect COVID-19 severity.

Seven genetic variants were associated with the severe form of COVID-19;Four genetic variants were associated with the severe form of COVID-19 in individuals with comorbid asthma;These findings help define the genetic component of the severe form of COVID-19 in relation to asthma as a comorbidity.

Seven genetic variants were associated with the severe form of COVID-19;

Four genetic variants were associated with the severe form of COVID-19 in individuals with comorbid asthma;

These findings help define the genetic component of the severe form of COVID-19 in relation to asthma as a comorbidity.

## Linked entities

- **Genes:** SCN10A (sodium voltage-gated channel alpha subunit 10) [NCBI Gene 6336], DSP (desmoplakin) [NCBI Gene 1832], RP1 (RP1 axonemal microtubule associated) [NCBI Gene 6101], IGFL1 (IGF like family member 1) [NCBI Gene 374918], DOK5 (docking protein 5) [NCBI Gene 55816], TMEFF2 (transmembrane protein with EGF like and two follistatin like domains 2) [NCBI Gene 23671], HIP1 (huntingtin interacting protein 1) [NCBI Gene 3092]
- **Diseases:** asthma (MONDO:0004979), COVID-19 (MONDO:0100096)

## Full-text entities

- **Genes:** SCN10A (sodium voltage-gated channel alpha subunit 10) [NCBI Gene 6336] {aka FEPS2, Nav1.8, PN3, SNS}, SCN1A (sodium voltage-gated channel alpha subunit 1) [NCBI Gene 6323] {aka DEE6, DEE6A, DEE6B, DRVT, EIEE6, FEB3}, TMEFF2 (transmembrane protein with EGF like and two follistatin like domains 2) [NCBI Gene 23671] {aka CT120.2, HPP1, TENB2, TPEF, TR, TR-2}, HIP1 (huntingtin interacting protein 1) [NCBI Gene 3092] {aka HIP-I, ILWEQ, SHON, SHONbeta, SHONgamma}, DSP (desmoplakin) [NCBI Gene 1832] {aka DCWHKTA, DP}, DOK5 (docking protein 5) [NCBI Gene 55816] {aka C20orf180, IRS-6, IRS6}, RP1 (RP1 axonemal microtubule associated) [NCBI Gene 6101] {aka DCDC4A, ORP1}, IGFL1 (IGF like family member 1) [NCBI Gene 374918] {aka APRG644, UNQ644}
- **Diseases:** COVID-19 (MESH:D000086382), asthma (MESH:D001249), respiratory diseases (MESH:D012140)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Figures

6 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11097529/full.md

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Source: https://tomesphere.com/paper/PMC11097529