ACE2 polymorphisms associated with cardiovascular risk in Uygurs with type 2 diabetes mellitus

Cheng, Liang; Li, Yanfang; Guan, Tianwang; Lai, Yanxian; Shen, Yan; Zeyaweiding, Abudurexiti; Zhao, Haiyan; Li, Fang; Maimaiti, Tutiguli

doi:10.1186/s12933-018-0771-3

Cited by 80 publications

(92 citation statements)

References 55 publications

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“…Angiotensin-converting enzyme-2 variants are associated with a wide variety of traits. It was shown that some variants in ACE2 in Uygyrs with type 2 diabetes mellitus are associated with cardiovascular risk ( Liu et al, 2018 ). These variants, such as rs1978124, rs2048683, rs233575, rs4240157, rs4646156, and rs879922, are significant cis- eQTLs for ACE2 ( Supplementary Table S3 ).…”

Section: Discussionmentioning

confidence: 99%

Analysis of the Spectrum of ACE2 Variation Suggests a Possible Influence of Rare and Common Variants on Susceptibility to COVID-19 and Severity of Outcome

et al. 2020

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Objectives In March 2020, the World Health Organization declared that an infectious respiratory disease caused by a new severe acute respiratory syndrome coronavirus 2 [SARS-CoV-2, causing coronavirus disease 2019 (COVID-19)] became a pandemic. In our study, we have analyzed a large publicly available dataset, the Genome Aggregation Database (gnomAD), as well as a cohort of 37 Russian patients with COVID-19 to assess the influence of different classes of genetic variants in the angiotensin-converting enzyme-2 ( ACE2 ) gene on the susceptibility to COVID-19 and the severity of disease outcome. Results We demonstrate that the European populations slightly differ in alternative allele frequencies at the 2,754 variant sites in ACE2 identified in the gnomAD database. We find that the Southern European population has a lower frequency of missense variants and slightly higher frequency of regulatory variants. However, we found no statistical support for the significance of these differences. We also show that the Russian population is similar to other European populations when comparing the frequencies of the ACE2 variants. Evaluation of the effect of various classes of ACE2 variants on COVID-19 outcome in a cohort of Russian patients showed that common missense and regulatory variants do not explain the differences in disease severity. At the same time, we find several rare ACE2 variants (including rs146598386, rs73195521, rs755766792, and others) that are likely to affect the outcome of COVID-19. Our results demonstrate that the spectrum of genetic variants in ACE2 may partially explain the differences in severity of the COVID-19 outcome.

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Section: Discussionmentioning

confidence: 99%

Analysis of the Spectrum of ACE2 Variation Suggests a Possible Influence of Rare and Common Variants on Susceptibility to COVID-19 and Severity of Outcome

et al. 2020

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“…In a study conducted on 503 Caucasian diabetic subjects, rs464188 and rs4240157 SNPs were found to be associated with hypertension in both men and women cohort [41]. In another study in Uyghur population, 8 SNPs (rs1978124, rs2048683, rs2074192, rs233575, rs4240157, rs4646156, rs4646188 and rs879922) were found to be associated with T2D with SNP rs879922 as a possible common genetic loci for T2D and T2D related cardiovascular risks [42]. Genetic variant studies conducted within Chinese ethnicity found comorbidity associated several ACE2 polymorphisms (rs2285666, rs4646188, rs2074192, rs4240157, rs4830542, rs879922) [43][44][45].…”

Section: Ace2 Polymorphism and Relation To Covid-19mentioning

confidence: 99%

COVID-19 and diabetes; Possible role of polymorphism and rise of telemedicine

Sayed

2021

Primary Care Diabetes

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Background: Diabetes has been found to be one of the leading comorbidities associated with fatality in COVID-19 patients. Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) entry is facilitated by interaction with Angiotensin Converting Enzyme-2 (ACE2) and possible polymorphisms in ACE2 can be a determining factor in host-viral protein interaction. A significant shift of healthcare towards 'Telemedicine' is also on the rise. In this review, the possible effects of ACE2 polymorphisms on SARS-CoV-2 entry along with the escalation of 'telemedicine' is discussed. Method: An expansive literature search using keywords: "COVID-19", "SARS-CoV-2", "diabetes", "type 2 diabetes", "type 1 diabetes", "ACE2", "polymorphism", "DPP4" and "telemedicine" was conducted on Pubmed and EMBASE till 7th August 2020. Result: Possible polymorphisms in ACE2 gene can play a role in influencing the virus entry in host body. Telemedicine can bring a new revolution for medical sector. Conclusion: COVID-19 severity is more heinous among diabetic population. So far, the in-silico studies involving human ACE2-viral Spike (S) interaction showed inconsistent predictions regarding some SNPs. But without actual in-vivo studies, a holistic understanding can't be established.

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“…Some of the studies focused on assessing the association of the ACE2 polymorphism and cardiovascular disorders in patients with Type 2 diabetes. Studies showed evidence that type 2 diabetes with certain ACE2 variations had a higher risk of cardiovascular complications such as coronary artery disease [42], hypertension, reduced systolic function, increased left ventricular mass [43,44], dyslipidemia, carotid atherosclerosis stenosis, retinopathy [45].…”

Section: -Sars-cov-2 Ace2 and Diabetesmentioning

confidence: 99%

ACE2: THE DOORWAY TO SARS-CoV-2

Medina-Enríquez¹,

Carlos-Escalante²,

Aponte-Torres³

et al. 2020

Preprint

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The angiotensin-converting enzyme 2 (ACE2) is the host functional receptor for the new virus SARS-CoV-2 causing Coronavirus Disease 2019. ACE2 is expressed in 71 different cell types. Some factors that can affect the expression of the ACE2 are: sex, environment, lifestyles, comorbidities, medications (e.g. anti-hypertensives) and its interaction with other genes of the renin-angiotensin system and other pathways. All of these factors can affect the risk of infection of SARS-CoV-2 and determine the severity of the symptoms. The ACE2 enzyme is a negative regulator of RAS expressed in various organ systems. It has been seen to be associated with immunity, inflammation, increased coagulopathy, and cardiovascular disease. In this review, we describe the genetic and molecular functions of the ACE2 receptor and its relation with the physiological and pathological conditions to better understand how this receptor is involved in the pathogenesis of COVID-19.

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ACE2 polymorphisms associated with cardiovascular risk in Uygurs with type 2 diabetes mellitus

Cited by 80 publications

References 55 publications

Analysis of the Spectrum of ACE2 Variation Suggests a Possible Influence of Rare and Common Variants on Susceptibility to COVID-19 and Severity of Outcome

Analysis of the Spectrum of ACE2 Variation Suggests a Possible Influence of Rare and Common Variants on Susceptibility to COVID-19 and Severity of Outcome

COVID-19 and diabetes; Possible role of polymorphism and rise of telemedicine

ACE2: THE DOORWAY TO SARS-CoV-2

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