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Polymorphisms within the SARS-CoV-2 Human Receptor Genes Associate with Variable Disease Outcomes across Ethnicities
Theolan Adimulam1, Thilona Arumugam1, Anushka Naidoo2
1School of Laboratory Medicine and Medical Sciences, College of Health Sciences, University of KwaZulu-Natal, Durban 4041, South Africa.
Genes
|September 28, 2023
Summary
Genetic variants in ACE2 and NRP1 are linked to COVID-19 severity and viral load, with ethnic variations observed. African individuals with specific genotypes showed worse outcomes, highlighting genetic factors in disease susceptibility.
Area of Science:
- Genetics and Infectious Diseases
- Molecular Biology and Virology
Background:
- Human genetic factors significantly influence infectious disease outcomes, including COVID-19.
- Specific polymorphisms in SARS-CoV-2 receptor/co-receptor genes like ACE2, TMPRSS2, NRP1, and CD147 have been implicated in COVID-19 severity.
Purpose of the Study:
- To investigate the role of specific polymorphisms within SARS-CoV-2 receptor/co-receptor genes (ACE2, TMPRSS2, CD147, NRP1) in COVID-19 severity and viral load.
- To determine genotype frequencies and associations with COVID-19 outcomes across African, European, and South Asian populations in South Africa.
- To explore ethnic variations in SARS-CoV-2 viral load and its correlation with specific genetic variants.
Main Methods:
- Genotyping of cryopreserved samples from COVID-19-positive individuals of African, European, and South Asian descent in South Africa.
- Analysis of polymorphisms in ACE2 (rs2285666), TMPRSS2 (rs12329760), CD147 (rs8259), and NRP1 (rs10080).
- Measurement of ACE2 expression and SARS-CoV-2 viral load using droplet digital PCR.
Main Results:
- The ACE2 genetic variant rs2285666 showed an association with COVID-19 severity, particularly in African individuals (CC genotype linked to more severe outcomes).
- SARS-CoV-2 viral load was significantly lower in individuals of African descent compared to those of European and South Asian descent.
- Polymorphisms rs2285666 (ACE2) and rs10080 (NRP1) were significantly associated with increased SARS-CoV-2 viral load and worse outcomes in specific ethnicities.
Conclusions:
- Genetic variants rs2285666 and rs10080 contribute to differences in COVID-19 severity and viral load across ethnic groups in South Africa.
- The study provides a genetic basis for observed ethnic disparities in COVID-19 outcomes.
- Findings underscore the importance of investigating genetic factors for potential therapeutic targets and tailored vaccination strategies.
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