Elbadri Shaimaa A, Abdallah Nermeen M A, El-Shokry Mona, Gaber Amr, Elsayed Mahmoud Kh
Medical Microbiology and Immunology, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
Anesthesia, Intensive Care and Pain Management, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
Egypt J Med Hum Genet. 2022;23(1):125. doi: 10.1186/s43042-022-00331-8. Epub 2022 Aug 23.
Coronavirus disease 2019 (COVID-19) is a devastating pandemic-causing disease with a variable severity among populations. Genetic studies have pinpointed angiotensin-converting enzyme 2 (ACE2), a key enzyme for viral entry, for its possible linkage to the disease progression. The present study aimed to investigate the potential association between single nucleotide polymorphisms (SNPs) of human ACE2 gene with the severity and outcomes of COVID-19 for better patient management.
In this observational cross-sectional study, COVID-19 confirmed patients were classified into moderate and severe cases according to the "Ain Shams University Hospitals Pocket Guide for COVID-19 Diagnosis." Genetic analysis of ACE2 SNP rs2048683 was carried out using a TaqMan assay with the real-time polymerase chain reaction (PCR) technique.
Among 90 confirmed COVID-19 patients, 78.9% (71/90) were classified as severe, and 21.1% (19/90) were classified as moderate. Laboratory biomarkers were significantly ( = 0.000) higher in the severe group than in the moderate group. Similarly, associated comorbidities such as hypertension were significant ( = 0.000) in the severe group, whereas asthma and deep venous thrombosis were significant in the moderate group ( = 0.007 and 0.006, respectively). Elevated serum ferritin level (odds ratio (OR) 162.589, 95% confidence interval (CI) 8.108-3260.293) and ACE2 rs2048683 genotype GG/G (OR 5.852, 95% CI 1.586-21.591) were both considered independent risk factors for severe disease.
The findings of the present study provide preliminary evidence of an association between ACE2 rs2048683 SNPs and COVID-19 severity in the Egyptian population, which may inform the need for targeted management.
The online version contains supplementary material available at 10.1186/s43042-022-00331-8.
2019年冠状病毒病（COVID-19）是一种具有毁灭性的大流行性疾病，在不同人群中的严重程度各不相同。基因研究已确定血管紧张素转换酶2（ACE2）是病毒进入的关键酶，可能与疾病进展有关。本研究旨在调查人类ACE2基因单核苷酸多态性（SNP）与COVID-19严重程度及预后之间的潜在关联，以更好地管理患者。
在这项观察性横断面研究中，根据“艾因夏姆斯大学医院COVID-19诊断袖珍指南”，将确诊的COVID-19患者分为中度和重度病例。采用TaqMan检测法和实时聚合酶链反应（PCR）技术对ACE2 SNP rs2048683进行基因分析。
在90例确诊的COVID-19患者中，78.9%（71/90）被分类为重度，21.1%（19/90）被分类为中度。重度组的实验室生物标志物显著高于中度组（P = 0.000）。同样，重度组中高血压等相关合并症显著（P = 0.000），而中度组中哮喘和深静脉血栓形成显著（分别为P = 0.007和0.006）。血清铁蛋白水平升高（比值比（OR）162.589，95%置信区间（CI）8.108 - 3260.293）和ACE2 rs2048683基因型GG/G（OR 5.852，95% CI 1.586 - 21.591）均被视为严重疾病的独立危险因素。
本研究结果为埃及人群中ACE2 rs2048683 SNP与COVID-19严重程度之间的关联提供了初步证据，这可能为针对性管理的必要性提供依据。
在线版本包含可在10.1186/s43042-022-00331-8获取的补充材料。
