The relationship between the clinical course of SARS-CoV-2 infections and ACE2 and TMPRSS2 expression and polymorphisms

Tuğ, Esra; Fidan, Işıl; Bozdayı, Gülendam; Yıldırım, Fatma; Tunçcan, Özlem Güzel; Lale, Zubeyde; Akdoğan, Doğan

doi:10.17219/acem/163409

Cited by 5 publications

(4 citation statements)

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“…Another study correlated the fact that the ACE2 gene is located on the X-chromosome with the higher incidence of infection among older men since they are hemizygous in terms of ACE2 29 . In agreement with our result, two studies 30 , 31 showed that gender was not related to the incidence and severity of SARS-CoV-2. Statistical analysis in a former study showed that the severity of SARS-CoV-2 infection was more evident in older age group 32 .…”

Section: Discussionsupporting

confidence: 93%

“…In another study that was conducted on SARS-CoV-2 patients in the Turkish population 31 , The ACE2 rs73635825 variant was very rare manifested by one patient carried this SNP, and no difference was observed between the groups. Another study conducted in Spain reported the increased risk and severity of COVID-19 in individuals who carry the ACE DD genotype of the ACE rs1799752 D/I polymorphism 41 , which came in contrast with a German study that demonstrated that the ACE rs1799752 D/I polymorphism had no effect on the severity or course of COVID-19 disease.…”

Section: Discussionmentioning

confidence: 91%

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Serum ACE2 and S19P gene polymorphism in Egyptian patients with COVID-19 infection: correlation with disease severity

Gaber,

Shokr,

Shaker

et al. 2024

Sci Rep

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The expression of ACE2 is linked to disease severity in COVID-19 patients. The ACE2 receptor gene polymorphisms are considered determinants for SARS-CoV-2 infection and its outcome. In our study, serum ACE2 and its genetic variant S19P rs73635825 polymorphism were investigated in 114 SARS-CoV-2 patients. The results were compared with 120 control subjects. ELISA technique and allele discrimination assay were used for measuring serum ACE2 and genotype analysis of ACE2 rs73635825. Our results revealed that serum ACE2 was significantly lower in SARS-CoV-2 patients (p = 0.0001), particularly in cases with hypertension or diabetes mellitus. There was a significant difference in the genotype distributions of ACE2 rs73635825 A > G between COVID-19 patients and controls (p-value = 0.001). A higher frequency of the heterozygous AG genotype (65.8%) was reported in COVID-19 patients. The G allele was significantly more common in COVID-19 patients (p < 0.0001). The AG and GG genotypes were associated with COVID-19 severity as they were correlated with abnormal laboratory findings, GGO, CXR, and total severity scores with p < 0.05. Our results revealed that the ACE2 S19P gene variant is correlated with the incidence of infection and its severity, suggesting the usefulness of this work in identifying the susceptible population groups for better disease control.

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Section: Discussionsupporting

confidence: 93%

Section: Discussionmentioning

confidence: 91%

Serum ACE2 and S19P gene polymorphism in Egyptian patients with COVID-19 infection: correlation with disease severity

Gaber,

Shokr,

Shaker

et al. 2024

Sci Rep

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“…The expression for rs2070788GA, rs7364083GA and rs9974589AC was significantly higher in the positive group for COVID-19, when compared to the control group (p = 0.001; 0.036 and 0.024, respectively). 44 Human leukocyte antigen (HLA) genetic variants have also been described to affect the prognosis of patients in different viruses, including COVID-19. 45 The HLA system is a remarkably polymorphic region.…”

Section: Genetic Variants Associated With Covid-19mentioning

confidence: 99%

Host Genetics and COVID-19: Genes Underlying the Patterns of Susceptibility and Prognosis

Khouri,

de Souza Candido,

Poli-Frederico

et al. 2023

Gene Expr

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Host-specific genetics, such as epigenetic profiles and genetic variants, can contribute to the pathogenesis of infectious diseases. Strong associations have been previously identified in infections by human immunodeficiency virus (HIV), Plasmodium falciparum, norovirus, and influenza A virus. Despite the efforts to characterize the role of host genetics in severe acute respiratory syndrome virus coronavirus 2 (SARS-CoV-2) infection, this comprehension remains incipient. Coronavirus disease 2019 (COVID-19) can evolve with a wide spectrum of manifestations, ranging from asymptomatic and mild cases to severe forms with acute respiratory distress syndrome, multi-organ complications, and even death. Classic clinical risk factors only partially explain this interindividual variability, suggesting that host genetics may contribute to the heterogeneity of courses. Robust evidence has revealed the multiple associations of genes (ABO,

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“…Transgenic animals serve as essential tools in biomedical research, allowing researchers to mimic specific human conditions by deleting ordinary genes or introducing foreign or altered genes into their genome [81]. These animals provide invaluable information on human diseases, allowing for the investigation of disease mechanisms, testing of potential treatments, and evaluation of therapeutic efficacy [82][83][84][85][86]. Moreover, they provide valuable insights regarding structural changes and imaging techniques for clinical cases [87][88][89][90][91][92][93][94][95][96][97][98][99][100][101][102][103][104][105][106].…”

Section: Introductionmentioning

confidence: 99%

Exploring the Neurobiological Roots of Emotional Behavior in Tryptophan Metabolism: Insights from Novel Kynurenine Aminotransferase Knockout Mice

Szabó,

Spekker,

Szűcs

et al. 2023

Preprint

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Memory and emotion, fundamental components of our mental existence, are highly vulnerable to psychiatric disorders like post-traumatic stress disorder (PTSD). This condition has been linked to serotonin (5-HT) metabolism disruptions. Over 95% of the 5-HT precursor tryptophan (Trp) is metabolized through the Trp-kynurenine (KYN) metabolic pathway, but little is known about its role in behavior. Kynurenine aminotransferases are responsible for the production of the Trp-KYN metabolite kynurenic acid. The gene aadat codes for mitochondrial kynurenine aminotransferase isotype 2. We generated CRISPR/Cas9-induced aadat knockout (kat2−/−) mice to examine the consequence of the gene deletion on negative valence in emotion, memory, and motor function in males 8 weeks of age and compared them to their wild-type counterparts. The forced swim test showed increased depression-like behaviors in transgenic mice. Anxiety and memory tests showed no significant differences. The transgenic mice had fewer center field and corner entries, shorter ambulation distances, and fewer jumping counts in the open field test. Overall, the transgenic mice exhibit depression-like behavior in a learned helplessness model, emotional indifference, and motor deficits. Here we present the first evidence that the deletion of the aadat gene triggers depression-like behaviors, uniquely associated with despair experience rather than adverse-conditioned memory. These findings have profound implications, opening avenues for further exploration into the main causes of experience-based depression linked to despair. This investigation has the potential to advance our understanding of these complex conditions and pave the way for improved therapeutic strategies by elucidating the relationship between Trp metabolism and the pathogenesis of PTSD.

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The relationship between the clinical course of SARS-CoV-2 infections and ACE2 and TMPRSS2 expression and polymorphisms

Cited by 5 publications

References 0 publications

Serum ACE2 and S19P gene polymorphism in Egyptian patients with COVID-19 infection: correlation with disease severity

Serum ACE2 and S19P gene polymorphism in Egyptian patients with COVID-19 infection: correlation with disease severity

Host Genetics and COVID-19: Genes Underlying the Patterns of Susceptibility and Prognosis

Exploring the Neurobiological Roots of Emotional Behavior in Tryptophan Metabolism: Insights from Novel Kynurenine Aminotransferase Knockout Mice

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