Fawzy Manal S, Ashour Hend, Shafie Aya Allah Ashraf, Dahman Nesrine Ben Hadj, Fares Abdelhamid M, Antar Sarah, Elnoby Ahmed S, Fouad Fatma Mohamed
Department of Medical Biochemistry and Molecular Biology, Faculty of Medicine, Suez Canal University, Ismailia, Egypt.
Department of Medical Physiology, Faculty of Medicine, King Khalid University, Abha, Saudi Arabia.
Egypt J Med Hum Genet. 2022;23(1):97. doi: 10.1186/s43042-022-00309-6. Epub 2022 May 28.
The angiotensin-converting enzyme-2 () is recognized to be the fundamental receptor of severe acute respiratory syndrome coronavirus-2 (SARS-CoV2), responsible for the worldwide Coronavirus Disease-2019 (COVID-19) epidemic. However, genetic differences between people besides racial considerations and their relation to disease susceptibility are still not fully elucidated.
To uncover the role of in COVID-19 infection, we reviewed the published studies that explore the association of COVID-19 with the functional characteristics of and its genetic variations. Notably, emerging studies tried to determine whether the variants and/or expression could be associated with SARS-CoV/SARS-CoV2 have conflicting results. Some researchers investigated the potential of "population-specific" genetic variations to impact the SARS-CoV2 vulnerability and suggested no ethnicity enrichment for polymorphisms that could influence SARS-CoV2 S-protein binding. At the same time, some studies use data mining to predict several variants that could enhance or decline susceptibility to SARS-CoV. On the other hand, fewer studies revealed an association of expression with COVID-19 outcome reporting higher expression levels of in East Asians.
gene variants and expression may modify the deleterious consequences of SARS-CoV2 to the host cells. It is worth noting that apart from the differences in gene expression and the genetic variations of , many other environmental and/or genetic factors could modify the disease outcome, including the genes for the innate and the adaptive immune response.
血管紧张素转换酶2(ACE2)被认为是严重急性呼吸综合征冠状病毒2(SARS-CoV-2)的主要受体,该病毒引发了全球范围的2019冠状病毒病(COVID-19)疫情。然而,除种族因素外,人群之间的基因差异及其与疾病易感性的关系仍未完全阐明。
为了揭示ACE2在COVID-19感染中的作用,我们回顾了已发表的研究,这些研究探讨了COVID-19与ACE2功能特性及其基因变异之间的关联。值得注意的是,新兴研究试图确定ACE2变异和/或表达是否与SARS-CoV/SARS-CoV-2相关,但其结果相互矛盾。一些研究人员调查了“特定人群”ACE2基因变异对SARS-CoV-2易感性的影响,并指出可能影响SARS-CoV-2 S蛋白结合的ACE2多态性不存在种族富集现象。同时,一些研究利用数据挖掘来预测几种可能增强或降低对SARS-CoV易感性的ACE2变异。另一方面,较少的研究揭示了ACE2表达与COVID-19结局之间的关联,报告称东亚人ACE2表达水平较高。
ACE2基因变异和表达可能会改变SARS-CoV-2对宿主细胞的有害影响。值得注意的是,除了ACE2基因表达和基因变异的差异外,许多其他环境和/或遗传因素也可能改变疾病结局,包括先天免疫和适应性免疫反应相关基因。