ArticleLife sciences2020
Variability in genes related to SARS-CoV-2 entry into host cells (ACE2, TMPRSS2, TMPRSS11A, ELANE, and CTSL) and its potential use in association studies.
Article in Life sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 3 of them syntheses that pooled it.
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Who cites it
35 citing papers in PubMed, 3 syntheses or guidelines pooled it, 69 citations in OpenAlex.
- Polymorphism of tmprss2 (rs12329760) but not ace2 (rs4240157), tmprss11a (rs353163) and cd147 (rs8259) is associated with the severity of COVID-19 in the Ukrainian population.Acta bio-medica : Atenei Parmensis · 2023Pooled it
- Polymorphisms and mutations of ACE2 and TMPRSS2 genes are associated with COVID-19: a systematic review.European journal of medical research · 2022Pooled it
- A systematic review on papers that study on Single Nucleotide Polymorphism that affects coronavirus 2019 severity.BMC infectious diseases · 2022Pooled it
- The impact of TMPRSS11A rs353163 and rs977728 polymorphisms on COVID-19 severity: genotypic and clinical associations.Molecular biology reports · 2025Article
- Characteristics of Oral Adverse Effects following COVID-19 Vaccination and Similarities with Oral Symptoms in COVID-19 Patients: Taste and Saliva Secretory Disorders.Medical principles and practice : international journal of the Kuwait University, Health Science Centre · 2025Review
- Genetic variants inFrontiers in genetics · 2025Article
- The Possible Mechanistic Basis of Individual Susceptibility to Spike Protein Injury.Advances in virology · 2025Review
- ELANE rs17223045C/T and rs3761007G/A variants: Protective factors against COVID-19.Biomolecules & biomedicine · 2024Article
- Kidney organoids reveal redundancy in viral entry pathways during ACE2-dependent SARS-CoV-2 infection.Journal of virology · 2024Article
- Molecular Analysis of Hot-Spot Regions of ACE2 and TMPRSS2 in SARS-CoV-2 "Invulnerable" Individuals.Cureus · 2023Article
- Spatial Distribution of SARS-CoV-2 Receptors and Proteases in Testicular Cells.The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society · 2023Article
- Association of the Transmembrane Serine Protease-2 (TMPRSS2) Polymorphisms with COVID-19.Viruses · 2022Article
- Expressions and significances of CTSL, the target of COVID-19 on GBM.Journal of cancer research and clinical oncology · 2022Article
- Periodically aperiodic pattern of SARS-CoV-2 mutations underpins the uncertainty of its origin and evolution.Environmental research · 2022Article
- The "Elastic Perspective" of SARS-CoV-2 Infection and the Role of Intrinsic and Extrinsic Factors.International journal of molecular sciences · 2022Review
- Genetic Predisposition and Inflammatory Inhibitors in COVID-19: Where Do We Stand?Biomedicines · 2022Review
- rs12329760 Polymorphism in Transmembrane Serine Protease 2 Gene and Risk of Coronavirus Disease 2019 Mortality.BioMed research international · 2022Article
- Molecular Modeling Targeting Transmembrane Serine Protease 2 (TMPRSS2) as an Alternative Drug Target Against Coronaviruses.Current drug targets · 2022Review
- Host polymorphisms and COVID-19 infection.Advances in clinical chemistry · 2022Article
- Implications derived from S-protein variants of SARS-CoV-2 from six continents.International journal of biological macromolecules · 2021Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe prevalence and mortality of the outbreak of the COVID-19 pandemic show marked geographic variation. The presence of several subtypes of the coronavirus and the genetic differences in the populations could condition that variation. Thus, the objective of this study was to propose variants in genes that encode proteins related to the SARS-CoV-2 entry into the host cells as possible targets for genetic associations studies.
methodsThe allelic frequencies of the polymorphisms in the ACE2, TMPRSS2, TMPRSS11A, cathepsin L (CTSL), and elastase (ELANE) genes were obtained in four populations from the American, African, European, and Asian continents reported in the 1000 Genome Project. Moreover, we evaluated the potential biological effect of these variants using different web-based tools.
resultsIn the coding sequences of these genes, we detected one probably-damaging polymorphism located in the TMPRSS2 gene (rs12329760) that produces a change of amino acid. Furthermore, forty-eight polymorphisms with possible functional consequences were detected in the non-coding sequences of the following genes: three in ACE2, seventeen in TMPRSS2, ten in TMPRSS11A, twelve in ELANE, and six in CTSL. These polymorphisms produce binding sites for transcription factors and microRNAs. The minor allele frequencies of these polymorphisms vary in each community; indeed, some of them are high in specific populations.
conclusionIn summary, using data of the 1000 Genome Project and web-based tools, we propose some polymorphisms, which, depending on the population, could be used for genetic association studies.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.