Human TMPRSS2 and ACE2 Genetic Variability on COVID-19 Outcomes in Patients From Brazil DOI Open Access
Felipe Pantoja Mesquita, Jean Breno Silveira da Silva, Laís Lacerda Brasil de Oliveira

et al.

Published: Oct. 25, 2023

Angiotensin-converting enzyme 2 (ACE2) and the transmembrane serine protease (TMPRSS2) are recognized as entry proteins of severe acute respiratory syndrome coronavirus (SARS-CoV-2), recently their Single Nucleotide Polymorphisms (SNP) have been studied in different populations to elucidate impact on disease. The aim this study was evaluate genetic SNP ACE2 (rs35803318) TMPRSS2 (rs2070788) genes COVID-19 patients from Northeast Brazil compared with global populations, well expression quantitative trait locus (eQTL). For (rs35803318), we found 92.6% CC, 3.4% CT, 4.0% TT genotype carriers SARS-CoV-2-positive patients. Surprisingly, only frequencies were not Hardy-Weinberg equilibrium. rs2070788, 22.3% GG, 50.7% AG, 27% AA loci (eQTLs) revealed that rs35803318 associated an altered PIR gene expression, rs2070788 eQTLs association lung tissue. No significant identified between distribution SNPs 'patient's outcome. In conclusion, our results suggest may be protective factors for including Brazilian population, since presence does affect outcome described by other studies.

Language: Английский

COVID-19 2022 update: transition of the pandemic to the endemic phase DOI Creative Commons
Michela Biancolella, Vito Luigi Colona, Ruty Mehrian‐Shai

et al.

Human Genomics, Journal Year: 2022, Volume and Issue: 16(1)

Published: June 1, 2022

Abstract COVID-19, which is caused by the SARS-CoV-2, has ravaged world for past 2 years. Here, we review current state of research into disease with focus on its history, human genetics and genomics transition from pandemic to endemic phase. We are particularly concerned lack solid information initial phases that highlighted necessity better preparation face similar future threats. On other hand, gratified progress genetic susceptibility investigations believe now time explore The latter will require worldwide vigilance cooperation, especially in emerging countries. In phase, vaccination rates have lagged developed countries should assist, as warranted, bolstering worldwide. also discuss status vaccines outlook COVID-19.

Language: Английский

Citations

119

The association of COVID-19 severity and susceptibility and genetic risk factors: A systematic review of the literature DOI Open Access
Angela Ishak, Meghana Mehendale, Mousa M. AlRawashdeh

et al.

Gene, Journal Year: 2022, Volume and Issue: 836, P. 146674 - 146674

Published: June 14, 2022

Language: Английский

Citations

40

Genetic Association between ACE2 (rs2285666 and rs2074192) and TMPRSS2 (rs12329760 and rs2070788) Polymorphisms with Post-COVID Symptoms in Previously Hospitalized COVID-19 Survivors DOI Open Access
César Fernández‐de‐las‐Peñas, Lars Arendt‐Nielsen, Gema Díaz‐Gil

et al.

Genes, Journal Year: 2022, Volume and Issue: 13(11), P. 1935 - 1935

Published: Oct. 24, 2022

The aim of the study was to identify association between four selected COVID-19 polymorphisms ACE2 and TMPRSS2 receptors genes with presence long-COVID symptomatology in survivors. These were as they associate entry SARS-CoV-2 virus into cells, so could be important for prognoses symptoms. Two hundred ninety-three (n = 293, 49.5% female, mean age: 55.6 ± 12.9 years) individuals who had been previously hospitalized due included. Three potential genotypes following single nucleotide (SNPs) obtained from non-stimulated saliva samples participants: (rs2285666), (rs2074192), (rs12329760), (rs2070788). Participants asked self-report any post-COVID defined a symptom that started no later than one month after acute infection whether persisted at time study. At (mean: 17.8, SD: 5.2 months hospital discharge), 87.7% patients reported least symptom. Fatigue (62.8%), pain (39.9%) or memory loss (32.1%) most prevalent Overall, differences symptoms dependent on rs2285666, rs2074192, rs12329760, rs2070788 genotypes. SNPs assessed, albeit associated severity, do not predispose developing people during first wave pandemic.

Language: Английский

Citations

30

Genetic Variants within SARS-CoV-2 Human Receptor Genes May Contribute to Variable Disease Outcomes in Different Ethnicities DOI Open Access
Theolan Adimulam, Thilona Arumugam, Anmol Gokul

et al.

International Journal of Molecular Sciences, Journal Year: 2023, Volume and Issue: 24(10), P. 8711 - 8711

Published: May 13, 2023

The novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has evolved into a global pandemic, with an alarming infectivity and mortality rate. Studies have examined genetic effects on SARS-CoV-2 disease susceptibility severity within Eurasian populations. These studies identified contrasting the of between African Genetic factors can explain some diversity observed severity. Single nucleotide polymorphisms (SNPs) receptor genes demonstrated detrimental protective across ethnic groups. For example, TT genotype rs2285666 (Angiotensin-converting enzyme (ACE2)) is associated disease, which found at higher frequency Asian individuals compared to European individuals. In this study, we four receptors, ACE2, Transmembrane serine protease (TMPRSS2), Neuropilin-1 (NRP1), Basigin (CD147). A total 42 SNPs located receptors were reviewed:

Language: Английский

Citations

11

TMPRSS2 as a Key Player in Viral Pathogenesis: Influenza and Coronaviruses DOI Creative Commons
Gilmara Barros de Lima,

Everton Nencioni,

Fábio Thimoteo

et al.

Biomolecules, Journal Year: 2025, Volume and Issue: 15(1), P. 75 - 75

Published: Jan. 7, 2025

TMPRSS2, a human transmembrane protease enzyme, plays crucial role in the spread of certain viruses, including influenza and coronaviruses. This enzyme promotes viral infection by cleaving glycoproteins, which helps viruses like SARS-CoV-2 A enter cells more effectively. Genetic differences TMPRSS2 may affect people’s susceptibility to COVID-19, underscoring need for studies that consider diverse populations. Beyond infectious diseases, has also been linked some cancers, suggesting it could be valuable target drug development. review provides summary inhibitors currently under study, with already clinical trials test their effectiveness against infections. As we uncover about TMPRSS2’s pathogenesis, open new doors therapies combat future outbreaks.

Language: Английский

Citations

0

Genetic mutations associated with severe respiratory diseases DOI Creative Commons
Alexey D. Moshkin, Kristina A. Stolbunova, Alina D. Matsvay

et al.

South of Russia ecology development, Journal Year: 2025, Volume and Issue: 19(4), P. 28 - 40

Published: Jan. 21, 2025

Aim. To analyze existing data on the impact of mutations in human genome pathogenesis respiratory viral infections and to discuss their relevance clinical practice. The primary objectives include describing mechanisms genetic mutations, reviewing examples genes that affect susceptibility disease severity evaluating prospects for testing personalized medicine.Research factors influencing demonstrates significant progression outcomes. For instance, IFITM3 gene, which plays a crucial role limiting influenza virus replication, along with its rs12252‐C polymorphism, is linked severe cases influenza. Similarly, TLR7 gene are associated manifestations COVID‐19, particularly males. These findings underscore importance identify individuals at heightened risk emphasize potential medicine enhance patient Additionally, it essential consider interplay between environmental as well social determinants health.This review examines influence progression. It can significantly course these infections. integrating into practice efficiency diagnosis, prognosis treatment emphasized.

Language: Английский

Citations

0

TMPRSS2 expression in oral mucosal cells induced by transfected double-stranded RNA and IL-1β DOI
Misaki Akagi, Kouji Ohta, Miyuki Sakuma

et al.

Journal of Oral Biosciences, Journal Year: 2025, Volume and Issue: unknown, P. 100619 - 100619

Published: Feb. 1, 2025

Language: Английский

Citations

0

Molecular mechanisms involved in anosmia induced by SARS-CoV-2, with a focus on the transmembrane serine protease TMPRSS2 DOI Open Access
Ali Akbar Karimian, Mohaddeseh Behjati, Mohammad Karimian

et al.

Archives of Virology, Journal Year: 2022, Volume and Issue: 167(10), P. 1931 - 1946

Published: Aug. 8, 2022

Language: Английский

Citations

16

Relevance of TMPRSS2, CD163/CD206, and CD33 in clinical severity stratification of COVID-19 DOI Creative Commons

Silvia Martínez-Diz,

Fernando Marín-Benesiu,

Ginesa López-Torres

et al.

Frontiers in Immunology, Journal Year: 2023, Volume and Issue: 13

Published: March 8, 2023

Background Approximately 13.8% and 6.1% of coronavirus disease 2019 (COVID-19) patients require hospitalization sometimes intensive care unit (ICU) admission, respectively. There is no biomarker to predict which these will develop an aggressive stage that we could improve their quality life healthcare management. Our main goal include new markers for the classification COVID-19 patients. Methods Two tubes peripheral blood were collected from a total 66 (n = 34 mild n 32 severe) samples (mean age 52 years). Cytometry analysis was performed using 15-parameter panel included in Maxpar ® Human Monocyte/Macrophage Phenotyping Panel Kit. by time-of-flight mass spectrometry (CyTOF) combination with genetic TaqMan probes ACE2 (rs2285666), MX1 (rs469390), TMPRSS2 (rs2070788) variants. GemStone™ OMIQ software used cytometry analysis. Results The frequency CD163 + /CD206 - population transitional monocytes (T-Mo) decreased group compared severe one, while T-Mo increased one. In addition, also found differences CD11b expression CD14 dim group, levels female (p 0.0412). When comparing disease, CD45 [p 0.014; odds ratio (OR) 0.286, 95% CI 0.104–0.787] /CD33 OR 0.104–0.787) best options as biomarkers discriminate between patient groups. CD33 indicated good stratification software. Among markers, G carriers have risk 0.02; 3.37, 1.18–9.60) those A/A genotype. This strength further when combined , C14 . Conclusions Here, report interesting role CD163/CD206, aggressiveness. reinforced aggressiveness are combined.

Language: Английский

Citations

10

The relationship between the clinical course of SARS-CoV-2 infections and ACE2 and TMPRSS2 expression and polymorphisms DOI Creative Commons
Esra Tuğ,

Işıl Fidan,

Gülendam Bozdayı

et al.

Advances in Clinical and Experimental Medicine, Journal Year: 2023, Volume and Issue: 33(1), P. 39 - 51

Published: June 16, 2023

Background.The viral spike (S) protein and host ACE2 TMPRSS2 genetic variations may act as a barrier to infections or determine susceptibility severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections.Objectives.We investigated the relationship between expression patterns polymorphisms of receptor genes associated with disease 2019 (COVID-19) clinical course SARS-CoV-2 infections. Materials methods.We examined 147 COVID-19 patients (41 asymptomatic, 53 symptomatic cases treated in intensive care unit (ICU)) 33 healthy controls.The was determined using One-Run RT-qPCR kit.Genotypic distributions single nucleotide (SNPs) were obtained reverse transcription quantitative polymerase chain reaction (RT-qPCR).Results.The expressions different SARS-CoV-2-positive -negative groups.The rs714205GG genotype G-allele showed significant differences asymptomatic group.A correlation found rs8134378GA, rs2070788GA, rs7364083GA, rs9974589AC genotypes positivity.The rs1978124 Callele rs8134378 A-allele group.The rs2070788GA all patient groups compared control group.There difference regarding CTTA haplotype formed by variants.The AGCAG AGAAG haplotypes variants more common group than other groups.Conclusions.Identifying will contribute further studies, enabling new vaccines potential therapeutic approaches be discovered.

Language: Английский

Citations

9