ACE DD polymorphism in severe COVID-19

Annunziata, Anna; Coppola, Antonietta; Lanza, Maurizia; Simioli, Francecsa; Imitazione, Pasquale; Pepe, Nicola; Maddaloni, Valeria; Atripaldi, Luigi; Fiorentino, Giuseppe

doi:10.15761/jts.1000396

Cited by 6 publications

(8 citation statements)

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“…Annunziata et al studied the frequency of ACE I/D genotype in a series of 26 severe COVID-19 cases followed in the intensive care unit and found the ACE DD genotype was the dominant geno-type in 73% of the patients. 15 They found ACE ID and ACE II genotype frequencies of 23% and 8%, respectively. 15 In another studyof 204 patients, 67 with severe disease and 137 with mild disease, Gomez et al found that the ACE DD genotype was statistically higher in the severe disease group than in the mild disease group (46% vs 32%, respectively).…”

Section: Discussionmentioning

confidence: 98%

“… 15 They found ACE ID and ACE II genotype frequencies of 23% and 8%, respectively. 15 In another studyof 204 patients, 67 with severe disease and 137 with mild disease, Gomez et al found that the ACE DD genotype was statistically higher in the severe disease group than in the mild disease group (46% vs 32%, respectively). 9 However, in their risk factor analysis, they found that the ACE DD genotype was not a risk factor for severe disease.…”

Section: Discussionmentioning

confidence: 98%

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Angiotensin-converting enzyme-1 gene insertion/deletion polymorphism may be associated with COVID-19 clinical severity: a prospective cohort study

et al. 2021

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BACKGROUND: Angiotensin-converting enzyme (ACE) insertion/deletion (I/D) polymorphism may play a role in the pathogenesis of coronavirus-19 disease (COVID-19). OBJECTIVES: Investigate the relationship between ACE I/D polymorphism and the clinical severity of COVID-19. DESIGN: Prospective cohort study. SETTING: Tertiary care hospital. PATIENTS AND METHODS: The study included COVID-19 patients with asymptomatic, mild, and severe disease with clinical data and whole blood samples collected from 1 April 2020 to 1 July 2020. ACE I/D genotypes were determined by polymerase chain reaction and agarose gel electrophoresis. MAIN OUTCOME MEASURE: ACE DD, DI and II genotypes frequencies. SAMPLE SIZE: 90 cases, 30 in each disease severity group. RESULTS: Age and the frequency of general comorbidity increased significantly from the asymptomatic disease group to the severe disease group. Advanced age, diabetes mellitus and presence of ischemic heart disease were independent risk factors for severe COVID-19 [OR and 95 % CI: 1.052 (1.021-1.083), 5.204 (1.006-26.892) and 5.922 (1.109-31.633), respectively]. The ACE II genotype was the dominant genotype (50%) in asymptomatic patients, while the DD genotype was the dominant genotype (63.3 %) in severe disease. The ACE II geno-type was protective against severe COVID-19 [OR and 95% CI: .323 (.112-.929)]. All nine patients (8.9%) who died had severe disease. CONCLUSIONS: The clinical severity of COVID-19 infection may be associated with the ACE I/D polymorphism. LIMITATIONS: Small sample size and single center. CONFLICT OF INTEREST: None.

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Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 98%

Angiotensin-converting enzyme-1 gene insertion/deletion polymorphism may be associated with COVID-19 clinical severity: a prospective cohort study

et al. 2021

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“…As a matter of fact, Gomez et al ( 16 ) found that ACE1 DD genotype was more frequent in severe COVID-19 cases, suggesting that there is an association between ACE1 DD genotype and the severity of COVID-19. Furthermore, ACE1 DD genotype has been correlated with respiratory failure ( 12 ) and increased death rate ( 38 ) in patients infected with COVID-19. In addition, an ecologic meta-regression showed that there is a link between ACE1 I/D polymorphism and the recovery rate of COVID-19 whereby faster recovery was correlated with higher frequency ratio of the I/D allele ( 20 ).…”

Section: Discussionmentioning

confidence: 99%

“…In addition to these risk factors, genetics may play a contributing role in COVID-19 infection ( 9 ). With inconclusive data, few studies have highlighted the roles of transmembrane protease serine 2 ( TMPRSS2 ), angiotensin converting enzyme 1 ( ACE1 ), and ACE2 gene variants in the susceptibility and severity of SARS-CoV-2 infection ( 10 – 12 ).…”

Section: Introductionmentioning

confidence: 99%

The Role of Angiotensin Converting Enzyme 1 Insertion/Deletion Genetic Polymorphism in the Risk and Severity of COVID-19 Infection

et al. 2021

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Background: Individuals infected with the COVID-19 virus present with different symptoms of varying severity. In addition, not all individuals are infected despite exposure. Risk factors such as age, sex, and comorbidities play a major role in this variability; however, genetics may also be important in driving the differences in the incidence and prognosis of the disease. An Insertion/Deletion (I/D) polymorphism in the ACE1 gene (rs1799752) may explain these genetic differences. The aims of this study were to determine the potential role of ACE1 I/D genetic polymorphism in the risk of contracting COVID-19 as well as predicting the severity of COVID-19 infection.Methods: Three-hundred and eighty-seven non-related Lebanese subjects, 155 controls and 232 cases, who presented to the American University of Beirut Medical Center (AUBMC) for COVID-19 PCR testing were recruited. Clinical data were collected via filling a questionnaire and accessing the medical records. Peripheral blood was withdrawn for DNA isolation, and genotyping performed with standard PCR followed by band visualization on agarose gel.Results: In our study population, previously described risk factors such as gender, age, and comorbidities were associated with increase in disease susceptibility and severity. ACE1 I was the least common allele, and there was a positive association between ACE1 I and the risk of contracting the COVID-19 disease. More specifically, the frequency of II genotype was significantly higher among cases when compared to controls (P = 0.035) with individuals with the II genotype having greater risk for contracting the COVID-19 disease: OR = 2.074, P = 0.048 in the multivariate analysis. As for disease severity, the DD genotype and D allele were associated with increased risk for developing severe symptoms (OR = 2.845, P = 0.026 and OR = 2.359, P = 0.014, respectively), and the DD genotype with necessitating hospitalization (OR = 2.307, P = 0.042). In parallel, D allele carriers showed a significantly increased risk for developing hypoxia: OR = 4.374, P = 0.045.Conclusion: We found a positive association between ACE1 I and the risk of contracting the COVID-19 disease, and between ACE1 D and a worse outcome of the COVID-19 infection. Therefore, genotyping for ACE1 I/D polymorphism could be used to assess risk and predict severity for better prognosis and management of the disease.

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“…In southern Italy, a small study was also conducted using 27 patient samples, focusing on severe respiratory failure associated with COVID-19 pneumonia [48]. At admission, 24 patients suffered from severe respiratory failure with paO2/FiO2 <100 mmHg and were treated with mechanical ventilation.…”

Section: Studies With Patient Samples (Clinical Studies)mentioning

confidence: 99%

Angiotensin–Converting Enzyme (ACE) 1 Gene Polymorphism and Phenotypic Expression of COVID-19 Symptoms

Yamamoto

Nishida

Yamamoto³

et al. 2021

Genes

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The renin–angiotensin–aldosterone system (RAAS) appears to play an important role in SARS-CoV-2 infection. Polymorphisms within the genes that control this enzymatic system are candidates for elucidating the pathogenesis of COVID-19, since COVID-19 is not only a pulmonary disease but also affects many organs and systems throughout the body in multiple ways. Most striking is the fact that ACE2, one of the major components of the RAAS, is a prerequisite for SARS-COV-2 infection. Recently, we and other groups reported an association between a polymorphism of the ACE1 gene (a homolog of ACE2) and the phenotypic expression of COVID-19, particularly in its severity. The ethnic difference in ACE1 insertion (I)/deletion (D) polymorphism seems to explain the apparent difference in mortality between the West and East Asia. The purpose of this review was to further evaluate the evidence linking ACE1 polymorphisms to COVID-19. We searched the Medline database (2019–2021) for reference citations of relevant articles and selected studies on the clinical outcome of COVID-19 related to ACE1 I/D polymorphism. Although the numbers of patients are not large enough yet, most available evidence supports the notion that the DD genotype adversely influences COVID-19 symptoms. Surprisingly, small studies conducted in several countries yielded opposite results, suggesting that the ACE1 II genotype is a risk factor. This contradictory result may be the case in certain geographic areas, especially in subgroups of patients. It may also be due to interactions with other genes or to yet unexplained biochemical mechanisms. According to our hypothesis, such candidates are genes that are functionally involved in the pathophysiology of COVID-19, can act in concert with the ACE1 DD genotype, and that show differences in their frequency between the West and East Asia. For this, we conducted research focusing on Alu-related genes. The current study on the ACE1 genotype will provide potentially new clues to the pathogenesis, treatment, and diagnosis of SARS-CoV-2 infections.

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ACE DD polymorphism in severe COVID-19

Cited by 6 publications

References 10 publications

Angiotensin-converting enzyme-1 gene insertion/deletion polymorphism may be associated with COVID-19 clinical severity: a prospective cohort study

Angiotensin-converting enzyme-1 gene insertion/deletion polymorphism may be associated with COVID-19 clinical severity: a prospective cohort study

The Role of Angiotensin Converting Enzyme 1 Insertion/Deletion Genetic Polymorphism in the Risk and Severity of COVID-19 Infection

Angiotensin–Converting Enzyme (ACE) 1 Gene Polymorphism and Phenotypic Expression of COVID-19 Symptoms

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