G-2713

An investigation on rs2285666 polymorphism of ACE2 gene in COVID-19 patients of Kashan population

 Fateme Hejazi ¹ ℗, Elaheh Seyed Hosseini ² ©   

 
Abstract

Introduction: Angiotensin-converting enzyme 2 (ACE2), as one of the main receptors for SARS-CoV-2, is essential to the pathophysiology of COVID-19. Single nucleotide polymorphisms (SNPs) and other genetic variations in the ACE2 gene may affect a person's vulnerability to infection and the severity of their clinical symptoms. The purpose of this study is to assess the relationship between the severity of COVID-19 symptoms and the rs2285666 SNP in the ACE2 gene. Methods and Materials: A case-control study was performed on 200 hospitalized COVID-19 patients (classified as mild, moderate, or severe) and 200 healthy controls. DNA was extracted for genotyping using PCR-RFLP with HpyCH4IV restriction enzyme digestion from nasopharyngeal and oropharyngeal swabs. Clinical parameters, such as SPO₂ levels, CRP, CT scan findings, and IgG antibody levels, were analyzed. Statistical analyses were carried out using SPSS software, which included logistic regression and Chi-square tests. Results: There were significant variations in the frequency of rs2285666 genotypes amongst patients with different levels of symptoms severity. Moreover, there seem to be a strong link between the rs2285666 single nucleotide polymorphism in the ACE2 gene in hospitalized COVID-19 patients and the severity of their symptoms. 49% of individuals carrying the homozygous GG genotype experienced severe symptoms, comparing to just 19.6% of those with the wild-type genotype (p=0.001), suggesting the homozygous GG genotype to be a significant factor in exacerbating COVID-19 progression. While no statistically significant influence of patient age or gender was observed on overall disease severity, the disease's severity was correlated with several critical clinical markers, including SPO₂ levels below 90%, CRP levels above 100 mg/L, and advanced lung involvement on CT scans (all p0.001). Furthermore, two months after infection, IgG levels were higher and more persistent in patients with severe symptoms (p = 0.001). Severe cases had significantly higher mortality rates (88.2%, p = 0.000). Conclusion and Discussion: Our investigations indicate that the ACE2 gene's rs2285666 polymorphism may affect the progression and severity of COVID-19 separately from other established risk factors. Combining genetic and clinical biomarker assessments might improve risk stratification and therapeutic decision-making for better patient management. Besides, finding genetic markers such as these could help us reach a better understanding of individual susceptibility to the disease and guide future evaluations.

Keywords: COVID-19, Polymorphism, ACE2 Receptor, rs2285666