Role of ACE2 and TMPRSS2 polymorphisms in clinical severity and outcomes of COVID-19 in Egypt

• Published in: African journal of laboratory medicine Vol. 13; no. 1; pp. 2375 - 8
• Main Authors: Samy, Walaa, Gaber, Osama A, Amer, Rania M, El-Deeb, Nahawand A, Abdelmoaty, Ahmed A, Sharaf, Ahmed L, El-Gebaly, Ahmed M, Mosbah, Rasha, Alsadik, Maha E, Fawzy, Amal, Ahmed, Alshymaa A
• Format: Journal Article
• Language: English
• Published: South Africa AOSIS (Pty) Ltd 2024; AOSIS; African Society for Laboratory Medicine (Ethiopia)
• Subjects: ace2 gene; Asymptomatic; COVID-19; Enzymes; Gene expression; Hospitalization; Infections; Intensive care; Laboratories; Medical Laboratory Technology; Medical research; Original Research; outcome; Oxygen saturation; Pneumonia; Polymerase chain reaction; Polymorphism; Proteins; Severe acute respiratory syndrome coronavirus 2; severity; single nucleotide polymorphisms; Thermal cycling; tmprss2 gene; Viruses; Lithuania; Egypt; COVID-19; severity; TMPRSS2 gene; ACE2 gene; single nucleotide polymorphisms; outcome
• ISSN: 2225-2002; 2225-2010; 2225-2010
• DOI: 10.4102/ajlm.v13i1.2375

The clinical presentations of coronavirus disease 2019 (COVID-19) exhibit significant variation, ranging from asymptomatic cases to mortality resulting from severe pneumonia. Host genetics can partially explain this variation. This study evaluated possible associations between severity and outcome of COVID-19 and single nucleotide polymorphism (SNP) rs2285666 in the gene and SNP rs2070788 in the gene. The study included a sample of 100 consecutive adult patients admitted to the COVID-19 Isolation and Intensive Care Units of the Zagazig University Hospitals, Zagazig, Egypt from July 2021 to November 2021. For rs2285666, polymerase chain reaction-restriction fragment length polymorphism was carried out. For rs2070788, real-time polymerase chain reaction was performed. For rs2285666, the GA genotype was the most frequent among female patients (39% [16/41]) and the A genotype was more prevalent among male patients (54.2% [32/59]). For rs2070788, the AA genotype was the most frequent among all patients (46% [46/100]). No rs2285666 or rs2070788 genotypes or allele frequencies had significant associations with either severity or outcomes of patients. This study found no significant associations of COVID-19 severity or outcomes of patients with genotypes or allele frequencies of the rs2285666 SNP in the gene or the rs2070788 SNP of the gene. The search for other genetic associations with COVID-19 infection is still required. The study reveals that host genetics explain the variation observed in the disease. Specific genetic variants can confer either increased susceptibility or resistance to the disease.