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Genetic analysis of ACE2 peptidase domain in SARS-CoV-2-positive and SARS-CoV-2-negative individuals from Pakistan.
Muhammad, Noor; Naeemi, Humaira; Azeem, Ayesha; Sadaqat, Rida; Shehzad, Umara; Siddique, Kashif; Hassan, Usman; Raza, Aun; Rashid, Muhammad Usman.
  • Muhammad N; Department of Basic Sciences Research, Shaukat Khanum Memorial Cancer Hospital and Research Centre (SKMCH&RC), 7-A, Block R-3, Johar Town, Lahore, Pakistan.
  • Naeemi H; Department of Basic Sciences Research, Shaukat Khanum Memorial Cancer Hospital and Research Centre (SKMCH&RC), 7-A, Block R-3, Johar Town, Lahore, Pakistan.
  • Azeem A; Department of Basic Sciences Research, Shaukat Khanum Memorial Cancer Hospital and Research Centre (SKMCH&RC), 7-A, Block R-3, Johar Town, Lahore, Pakistan.
  • Sadaqat R; Department of Basic Sciences Research, Shaukat Khanum Memorial Cancer Hospital and Research Centre (SKMCH&RC), 7-A, Block R-3, Johar Town, Lahore, Pakistan.
  • Shehzad U; Department of Basic Sciences Research, Shaukat Khanum Memorial Cancer Hospital and Research Centre (SKMCH&RC), 7-A, Block R-3, Johar Town, Lahore, Pakistan.
  • Siddique K; Department of Radiology, SKMCH&RC, Lahore, Pakistan.
  • Hassan U; Department of Pathology, SKMCH&RC, Lahore, Pakistan.
  • Raza A; Department of Internal Medicine, SKMCH&RC, Lahore, Pakistan.
  • Rashid MU; Department of Basic Sciences Research, Shaukat Khanum Memorial Cancer Hospital and Research Centre (SKMCH&RC), 7-A, Block R-3, Johar Town, Lahore, Pakistan. usmanr@skm.org.pk.
Mol Biol Rep ; 50(5): 4309-4316, 2023 May.
Article in English | MEDLINE | ID: covidwho-2273120
ABSTRACT

BACKGROUND:

The outbreak of coronavirus disease 2019 (COVID-19) has emerged as a serious public health emergency of global concern. Angiotensin converting enzyme 2 (ACE2) peptidase domain is important for the cellular entry of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Germline variants in ACE2 peptidase domain may influence the susceptibility for SARS-CoV-2 infection and disease severity in the host population. ACE2 genetic analysis among Caucasians showed inconclusive results. This is the first Asian study investigating the contribution of ACE2 germline variants to SARS-CoV-2 infection in Pakistani population.

METHODS:

In total, 442 individuals, including SARS-CoV-2-positive (n = 225) and SARS-CoV-2-negative (n = 217) were screened for germline variants in ACE2 peptidase domain (exons 2, 3, 9, and 10) using high resolution melting and denaturing high-performance liquid chromatography analyses followed by DNA sequencing of variant fragments. The identified variant was analyzed by in silico tools for potential effect on ACE2 protein.

RESULTS:

A missense variant, p.Lys26Arg, was identified in one SARS-CoV-2-positive (1/225; 0.4%) and three SARS-CoV-2-negative (3/217; 1.4%) individuals. No significant difference in the minor allele frequency of this variant was found among SARS-CoV-2-positive and SARS-CoV-2-negative individuals (1/313; 0.3% versus 3/328; 0.9%; P = 0.624), respectively. The SARS-CoV-2-positive patient carrying p.Lys26Arg showed mild COVID-19 disease symptoms. It was predicted as benign variant by in silico tool. No variant was detected in ACE2 residues important for binding of SARS-CoV-2 spike protein.

CONCLUSION:

The p.Lys26Arg variant may have no association with SARS-CoV-2 susceptibility in Pakistani population. Whole ACE2 gene screening is warranted to clarify its role in SARS-CoV-2 infection.
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Full text: Available Collection: International databases Database: MEDLINE Main subject: Angiotensin-Converting Enzyme 2 / COVID-19 Type of study: Diagnostic study / Observational study / Prognostic study Topics: Variants Limits: Humans Country/Region as subject: Asia Language: English Journal: Mol Biol Rep Year: 2023 Document Type: Article Affiliation country: S11033-023-08315-6

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Full text: Available Collection: International databases Database: MEDLINE Main subject: Angiotensin-Converting Enzyme 2 / COVID-19 Type of study: Diagnostic study / Observational study / Prognostic study Topics: Variants Limits: Humans Country/Region as subject: Asia Language: English Journal: Mol Biol Rep Year: 2023 Document Type: Article Affiliation country: S11033-023-08315-6