<i>ACE2</i> and <i>TMPRSS2</i> variants and expression as candidates to sex and country differences in COVID-19 severity in Italy

Asselta, Rosanna; Paraboschi, Elvezia Maria; Mantovani, Alberto; Duga, Stefano

doi:10.1101/2020.03.30.20047878

Cited by 88 publications

(119 citation statements)

References 30 publications

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“…However, no difference in ace2 genes was found that could explained the sex differences or higher susceptibility and mortality in the italian population. regarding the genetic variation in TMPrSS2, 3 variants were observed, one exonic variant (p.Val60Met) and 2 haplotypes that are more frequent in italian population compared to the east asian population that also determines an increased susceptibility to influenza (40). Further studies should be done in order to validate this hypothesis that can help the physicians to identify risk population and apply personalized preventive and therapeutic strategies.…”

Section: Demographics and Healthmentioning

confidence: 92%

“…in contrast, the higher expression is associated with higher susceptibility and worst evolution (12). asselta et al (40), tried to explain the high incidence, severity and sex differences in coVid-19 infection in italy by investigating the polymorphism of ace2 and TMPrSS2 genes. However, no difference in ace2 genes was found that could explained the sex differences or higher susceptibility and mortality in the italian population.…”

Section: Demographics and Healthmentioning

confidence: 99%

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COVID‑19 in Northern Italy: An integrative overview of factors possibly influencing the sharp increase of the outbreak (Review)

et al. 2020

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italy is currently one of the countries seriously affected by the coVid-19 pandemic. as per 10 april 2020, 147,577 people were found positive in a total of 906,864 tests performed and 18,849 people lost their lives. among all cases, 70.2% of positive, and 79.4% of deaths occurred in the provinces of northern italy (lombardi, emilia romagna, Veneto and Piemonte), where the outbreak first started. Originally, it was considered that the high number of positive cases and deaths in italy resulted from coVid-19 initially coming to italy from china, its presumed country of origin. However, an analysis of the factors that played a role in the extent of this outbreak is needed. Evaluating which factors could be specific for a country and which might contribute the most is nevertheless complex, with accompanying high uncertainty. The purpose of this work is to discuss some of the possible contributing factors and their possible role in the relatively high infection and death rates in northern italy compared to other areas and countries.

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Section: Demographics and Healthmentioning

confidence: 92%

Section: Demographics and Healthmentioning

confidence: 99%

COVID‑19 in Northern Italy: An integrative overview of factors possibly influencing the sharp increase of the outbreak (Review)

et al. 2020

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“…In addition, polymorphisms of cellular proteases-believed to facilitate the entry of SARS-CoV-2 into the cell, along with furin [4] and TMPRSS2 [5]-have been shown to exist [6,7]. Indeed, a recent preprint suggests that TMPRSS2 variants and resulting expression may influence COVID-19 severity [8]. It is now evident that not all infected patients develop a severe respiratory illness; the reason for this is currently not clear.…”

Section: Genomics Of Susceptibility and Resistancementioning

confidence: 99%

COVID-19 vulnerability: the potential impact of genetic susceptibility and airborne transmission

et al. 2020

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The recent coronavirus disease , caused by SARS-CoV-2, is inarguably the most challenging coronavirus outbreak relative to the previous outbreaks involving SARS-CoV and MERS-CoV. With the number of COVID-19 cases now exceeding 2 million worldwide, it is apparent that (i) transmission of SARS-CoV-2 is very high and (ii) there are large variations in disease severity, one component of which may be genetic variability in the response to the virus. Controlling current rates of infection and combating future waves require a better understanding of the routes of exposure to SARS-CoV-2 and the underlying genomic susceptibility to this disease. In this mini-review, we highlight possible genetic determinants of COVID-19 and the contribution of aerosol exposure as a potentially important transmission route of SARS-CoV-2.

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“…smoking) and a possibly different Accepted Article immune response in males. Other entry mechanisms may also play a role, such as transmembrane protease serine 2 (TMPRSS2), and TMPRSS2 variants and expression have indeed been linked to differences in COVID-19 severity 26 . Susceptibility to the development of post-COVID-19 pulmonary fibrosis could also have a genetic component, as variants in numerous genes or their promotors (such as MUC5B and TERT) have been found to predispose to lung fibrosis, both in the context of idiopathic pulmonary fibrosis and in interstitial fibrosis related to hypersensitivity pneumonitis and collagen vascular disease [27][28][29][30] .…”

Section: Genetics In Covid-19mentioning

confidence: 99%

Histopathology and genetic susceptibility in COVID‐19 pneumonia

Thüsen

Eerden

2020

Eur J Clin Investigation

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Background The clinical features of COVID‐19 pneumonia range from a mild illness to patients with a very severe illness with acute hypoxemic respiratory failure requiring ventilation and Intensive Care Unit admission. Aims To provide a brief overview of the existing evidence for such differences in host response and outcome, and generate hypotheses for divergent patterns and avenues for future research, by highlighting similarities and differences in histopathological appearance between COVID‐19 and influenza as well as previous coronavirus outbreaks, and by discussing predisposition through genetics and underlying disease. Materials and Method We assessed the available early literature for histopathological patterns of COVID‐19 pneumonia and underlying risk factors. Result The histopathological spectrum of COVID‐19 pneumonia includes variable patterns of epithelial damage, vascular complications, fibrosis and inflammation. Risk factors for a fatal disease include older age, respiratory disease, diabetes mellitus, obesity and hypertension. Discussion While some risk factors and their potential role in COVID‐19 pneumonia are increasingly recognized, little is known about the mechanisms behind episodes of sudden deterioration or the infrequent idiosyncratic clinical demise in otherwise healthy and young subjects. Conclusion The answer to many of the remaining questions regarding COVID‐19 pneumonia pathogenesis may in time be provided by genotyping as well careful clinical, serological, radiological and histopathological phenotyping.

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ACE2 and TMPRSS2 variants and expression as candidates to sex and country differences in COVID-19 severity in Italy

Abstract: Background

Cited by 88 publications

References 30 publications

COVID‑19 in Northern Italy: An integrative overview of factors possibly influencing the sharp increase of the outbreak (Review)

COVID‑19 in Northern Italy: An integrative overview of factors possibly influencing the sharp increase of the outbreak (Review)

COVID-19 vulnerability: the potential impact of genetic susceptibility and airborne transmission

Histopathology and genetic susceptibility in COVID‐19 pneumonia

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