Related Experiment Video

Updated: Jul 1, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.8K

The single nucleotide polymorphism rs4986790 (c.896A>G) in the gene TLR4 as a protective factor in corona virus

Christoph Zacher1, Kristina Schönfelder2, Hana Rohn3

  • 1Institute of Pharmacogenetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.

Frontiers in Immunology
|March 4, 2024
PubMed

Insights

The TLR4 rs4986790 AG/GG genotype acts as a protective factor against severe COVID-19 outcomes. This genetic marker, along with low IL-6 and PCT levels, can predict disease severity and reduce hospitalization risk.

Area of Science:

  • Genetics
  • Immunology
  • Infectious Diseases

Background:

  • Known risk factors for COVID-19 severity include hypertension and diabetes mellitus.
  • Limited information exists regarding genetic markers influencing COVID-19 disease progression.

Purpose of the Study:

  • To investigate the single nucleotide polymorphism (SNP) rs4986790 in the Toll-like receptor 4 (TLR4) gene.
  • To identify a universal marker for preclinical prediction of COVID-19 disease severity.

Main Methods:

  • Analysis of demographics, comorbidities, and inflammatory markers (IL-6, PCT) in 1570 COVID-19 patients.
  • Multivariable analysis to assess the impact of TLR4 rs4986790 genotype on disease outcomes.

Main Results:

  • Younger age and absence of comorbidities were protective against severe disease.
  • The TLR4 rs4986790 AG/GG genotype was associated with a 51% reduced risk of severe COVID-19 outcomes (OR: 0.51, 95% CI: 0.34-0.77, p=0.001).
  • Low IL-6 and PCT levels, absence of cardiovascular disease, and TLR4 rs4986790 AG/GG genotype were independent predictors of reduced hospitalization and severe disease.

Conclusions:

  • The TLR4 rs4986790 AG/GG genotype is a significant genetic predictor of COVID-19 severity.
  • This genetic marker can potentially be used in routine diagnostics for early risk assessment of severe COVID-19.
  • Findings confirm the role of pre-existing conditions and inflammatory markers in COVID-19 prognosis.
Abstract

Keywords:
COVID-19IL-6SARS-CoV-2TLR4disease severitypolymorphismprognostic markerrs4986790

More Related Videos

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene07:00

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

Published on: April 1, 2019

10.0K
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.1K

Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
15.1K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
13.4K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
17.7K
Exon Recombination02:32

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon...
3.6K