| Title: | Variants in ACE2 and TMPRSS2 Genes Are Not Major Determinants of COVID-19 Severity in UK Biobank Subjects |
| Journal: | Human Heredity |
| Published: | 1 Jan 2020 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/33752217/ |
| DOI: | https://doi.org/10.1159/000515200 |
| URL: | https://karger.com/hhe/article-pdf/85/2/66/2910488/000515200.pdf |
| Citations: | 13 (1 in last 2 years) as of 8 Aug 2024 |
Publication 5983
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Abstract
It is plausible that variants in the ACE2 and TMPRSS2 genes might contribute to variation in COVID-19 severity and that these could explain why some people become very unwell whereas most do not. Exome sequence data was obtained for 49,953 UK Biobank subjects, of whom 82 had tested positive for SARS-CoV-2 and could be presumed to have severe disease. A weighted burden analysis was carried out using SCOREASSOC to determine whether there were differences between these cases and the other sequenced subjects in the overall burden of rare, damaging variants in ACE2 or TMPRSS2. There were no statistically significant differences in weighted burden scores between cases and controls for either gene. There were no individual DNA sequence variants with a markedly different frequency between cases and controls. Whether there are small effects on severity, or whether there might be rare variants with major effect sizes, would require studies in much larger samples. Genetic variants affecting the structure and function of the ACE2 and TMPRSS2 proteins are not the main explanation for why some people develop severe symptoms in response to infection with SARS-CoV-2. This research was conducted using the UK Biobank Resource.</p>
15 Keywords
- Angiotensin-Converting Enzyme 2
- Biological Specimen Banks
- COVID-19
- Exome Sequencing
- Gene Frequency
- Genetic Predisposition to Disease
- Genetic Variation
- Genotype
- Humans
- Polymorphism, Single Nucleotide
- Risk Factors
- SARS-CoV-2
- Serine Endopeptidases
- Severity of Illness Index
- United Kingdom
1 Author
- David Curtis
Enabling scientific discoveries that improve human health