Genetic Variations in the Human Angiotensin-ConvertingEnzyme 2 and Susceptibility to Coronavirus Disease-19.

IF 1.4 4区生物学 Q4 GENETICS & HEREDITY

Genetics research Pub Date : 2023-11-29 eCollection Date: 2023-01-01 DOI:10.1155/2023/2593199

Taravat Talebi, Tannaz Masoumi, Katayoun Heshmatzad, Mahshid Hesami, Majid Maleki, Samira Kalayinia

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Abstract

Background: Health and economies are both affected by the coronavirus disease-19 (COVID-19) global pandemic. Angiotensin-converting enzyme 2 (ACE2) is a polymorphic enzyme that is a part of the renin-angiotensin system, and it plays a crucial role in viral entry. Previous investigations and studies revealed that severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and ACE2 have a considerable association. Recently, ACE2 variants have been described in human populations in association with cardiovascular and pulmonary conditions. In this study, genetic susceptibility to COVID-19 in different populations was investigated.

Methods and results: We evaluated the identified variants based on the predictive performance of 5 deleteriousness-scoring methods and the 2015 American College of Medical Genetics and Genomics (ACMG) guidelines. The results indicated 299 variants within the ACE2 gene. The variants were analyzed by different in-silico analysis tools to assess their functional effects. Ultimately, 5 more deleterious variants were found in the ACE2 gene.

Conclusions: Collecting more information about the variations in binding affinity between SARS-CoV-2 and host-cell receptors due to ACE2 variants leads to progress in treatment strategies for COVID-19. The evidence accumulated in this study showed that ACE2 variants in different populations may be associated with the genetic susceptibility, symptoms, and outcome of SARS-CoV-2 infection.

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人类血管紧张素转换酶 2 的基因变异与对冠状病毒疾病-19 的易感性。

背景：冠状病毒病-19（COVID-19）的全球流行对健康和经济都造成了影响。血管紧张素转换酶 2（ACE2）是一种多态酶，是肾素-血管紧张素系统的一部分，在病毒进入人体的过程中起着至关重要的作用。以往的调查和研究显示，严重急性呼吸系统综合征冠状病毒 2（SARS-CoV-2）与 ACE2 有很大的关联。最近，在人类人群中发现 ACE2 变异与心血管和肺部疾病有关。本研究调查了不同人群对 COVID-19 的遗传易感性：我们根据 5 种缺失评分方法的预测性能和 2015 年美国医学遗传学和基因组学学院（ACMG）指南对已确定的变异进行了评估。结果显示 ACE2 基因中有 299 个变异。这些变异通过不同的体内分析工具进行分析，以评估其功能效应。最终，在 ACE2 基因中又发现了 5 个有害变异：结论：收集更多有关 ACE2 变异导致 SARS-CoV-2 与宿主细胞受体之间结合亲和力变化的信息，有助于 COVID-19 的治疗策略取得进展。本研究积累的证据表明，不同人群中的 ACE2 变异可能与 SARS-CoV-2 感染的遗传易感性、症状和结果有关。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Genetics research 生物-遗传学

自引率

6.70%

发文量

审稿时长

>12 weeks

期刊介绍： Genetics Research is a key forum for original research on all aspects of human and animal genetics, reporting key findings on genomes, genes, mutations and molecular interactions, extending out to developmental, evolutionary, and population genetics as well as ethical, legal and social aspects. Our aim is to lead to a better understanding of genetic processes in health and disease. The journal focuses on the use of new technologies, such as next generation sequencing together with bioinformatics analysis, to produce increasingly detailed views of how genes function in tissues and how these genes perform, individually or collectively, in normal development and disease aetiology. The journal publishes original work, review articles, short papers, computational studies, and novel methods and techniques in research covering humans and well-established genetic organisms. Key subject areas include medical genetics, genomics, human evolutionary and population genetics, bioinformatics, genetics of complex traits, molecular and developmental genetics, Evo-Devo, quantitative and statistical genetics, behavioural genetics and environmental genetics. The breadth and quality of research make the journal an invaluable resource for medical geneticists, molecular biologists, bioinformaticians and researchers involved in genetic basis of diseases, evolutionary and developmental studies.