Angiotensin-converting enzyme 2 (ACE2) polymorphisms and susceptibility of severe SARS-CoV-2 in a subset of Pakistani population

• Published in: Virology journal Vol. 20; no. 1; p. 120
• Main Authors: Sidhwani, Santosh Kumar, Mirza, Talat, Khatoon, Ambrina, Shaikh, Fouzia, Khan, Rizma, Shaikh, Omer Ahmed, Nashwan, Abdulqadir J
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 12.06.2023; BioMed Central; BMC
• Subjects: ACE inhibitors; ACE2; ACE2 gene; Analysis; Angiotensin; Angiotensin converting enzyme; Angiotensin-Converting Enzyme 2; Asian people; Asymptomatic; Cardiovascular disease; COVID-19; Cross-Sectional Studies; Diabetes; Diabetics; Disease transmission; Dyspnea; Enzymes; Fever; Gene amplification; Gene polymorphism; Genetic aspects; Genetic diversity; Genetic testing; Genotype & phenotype; Haplotypes; Health aspects; Heterozygosity; Hospital patients; Hospitals; Humans; Hypertension; Infections; Male; Medical research; Medicine, Experimental; Middle Aged; Mortality; Pakistan; Patients; Peptidyl-dipeptidase A; Polymorphism, Single Nucleotide; Polymorphisms; Population; Risk factors; rs2285666; SARS-CoV-2; Severe acute respiratory syndrome coronavirus 2; Single nucleotide polymorphisms; Single-nucleotide polymorphism; SNPs; Statistical analysis; Taste disorders; Variants; Viral infections; Pakistan; rs2285666; SNPs; ACE2; Variants; SARS-CoV-2; Polymorphisms
• ISSN: 1743-422X; 1743-422X
• DOI: 10.1186/s12985-023-02091-2

Science is digging for the varied presentation of COVID-19 patients exposed to the same risk factors, and medical conditions may be influenced by the presence of polymorphic genetic variants. This study investigated the link between ACE2 gene polymorphisms and the severity of SARS-CoV-2. This cross-sectional study recruited COVID-19 PCR-positive patients by consecutive sampling from Ziauddin Hospital from April to September 2020. DNA was extracted from whole blood, followed by gene amplification and Sanger's sequencing. Most of the patients, 77: 53.8%, were serious. Males were higher (80; 55.9%) with age more than 50 years (106: 74.1%). We found 22 ACE2 SNPs. rs2285666 SNP was most prevalent with 49.2% CC, 45.2% TT, 4.8% CT heterozygosity, and 0.8% AA genotypes. Variants with multiple genotypes were also insignificantly associated with the severity of COVID-19 in the analysis of the dominant model. Only rs2285666 had a significant statistical link with gender (p-value 0.034, OR; 1.438, CI; 1.028-2.011) while rs768883316 with age groups (p-value 0.026, OR; 1.953, CI; 1.085-3.514). Haplotypes ATC of three polymorphisms (rs560997634, rs201159862, and rs751170930) commonly found in 120 (69.77%) and TTTGTAGTTAGTA haplotype consisting of 13 polymorphisms (rs756737634, rs146991645, rs1601703288, rs1927830489, rs1927831624, rs764947941, rs752242172, rs73195521, rs781378335, rs756597390, rs780478736, rs148006212, rs768583671) in 112 (90.32%) had statistically significant association with the severity having p = value 0.029 and 0.001 respectively. Males of old age and diabetics are found to have more severe COVID-19 infection in the current study. We also found that common ACE2 polymorphism rs2285666 influences the susceptibility of acquiring the severe SARS-CoV-2 infection.