Human-genetic variants associated with susceptibility to SARS-CoV-2 infection
Daniel Azcarate1, Felix Olasagasti Arsuaga2, Eva Granizo Rodriguez1
1BIOMICs Research Group (BIOMICS and Microfluidics cluster), Zoology and animal cellular biology department, Faculty of Science and Technology (UPV/EHU), 48940 Leioa, Biscay (Basque Country), Spain.
Gene
|March 22, 2025
Summary
Genetic markers like IFITM3, ORMDL1, IFIH1, and TMPRSS2 variations indicate SARS-CoV-2 infection susceptibility. These findings aid in identifying at-risk individuals for targeted COVID-19 pandemic interventions.
Area of Science:
- Genetics and Genomics
- Infectious Diseases
- Public Health
Background:
- Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) causes COVID-19, a global health crisis.
- Identifying genetic factors influencing SARS-CoV-2 susceptibility is vital for public health preparedness.
Purpose of the Study:
- To identify genetic markers associated with SARS-CoV-2 infection susceptibility.
- To explore genetic predispositions to COVID-19 using single nucleotide variations (SNVs) and haplotype analyses.
Main Methods:
- Investigated 35 SNVs in viral infection-associated genes in SARS-CoV-2 patients and controls.
- Performed association and haplotype analyses to identify susceptibility markers.
- Utilized descriptive modeling to pinpoint key genetic risk factors.
Main Results:
- Discovered novel associations between specific SNVs and haplotypes with SARS-CoV-2 susceptibility.
- Identified key susceptibility indicators: rs11246068-CC (IFITM3), rs5742933-GG (ORMDL1), rs35337543-CG (IFIH1).
- Highlighted TMPRSS2 GGGCT variation (multiple rs IDs) as a significant infection-susceptibility factor.
Conclusions:
- Integrated SNV and haplotype analyses are crucial for understanding SARS-CoV-2 susceptibility.
- Identified genetic markers can inform proactive prevention strategies and enhance pandemic preparedness.
- Findings provide valuable genetic insights for future public health responses to viral pandemics.
Related Concept Videos
01:05Single Nucleotide Polymorphisms-SNPs
13.8K
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,...
13.8K
01:11Genome-wide Association Studies-GWAS
12.3K
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...
GWAS does not require the identification of the target gene involved in...
12.3K
01:33Pleiotropy
38.9K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
38.9K
02:26Comparing Copy Number Variations and SNPs
16.9K
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%...
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%...
16.9K
01:25Genetic Variation
246
Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
Genes exist in different versions called alleles,...
246
01:28Human Genetics
506
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
506