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Impact of ACE2 gene variations on COVID-19 pathogenicity in Pakistani patients
BACKGROUND: COVID-19, caused by the SARS-CoV-2 virus, swiftly disseminated and was declared a pandemic. Variations in the ACE2 gene can impact the virus's ability to bind to ACE2 receptor, potentially influencing an individual's susceptibility and its association with COVID-19 severity acr...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10550763/ https://www.ncbi.nlm.nih.gov/pubmed/37811480 http://dx.doi.org/10.1016/j.sjbs.2023.103813 |
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author | Waryah, Yar Muhammad Khidri, Feriha Fatima Nigar, Roohi Devrajani, Tarachand Rajput, Ali Raza Waryah, Ali Muhammad Ujjan, Ikram Din |
author_facet | Waryah, Yar Muhammad Khidri, Feriha Fatima Nigar, Roohi Devrajani, Tarachand Rajput, Ali Raza Waryah, Ali Muhammad Ujjan, Ikram Din |
author_sort | Waryah, Yar Muhammad |
collection | PubMed |
description | BACKGROUND: COVID-19, caused by the SARS-CoV-2 virus, swiftly disseminated and was declared a pandemic. Variations in the ACE2 gene can impact the virus's ability to bind to ACE2 receptor, potentially influencing an individual's susceptibility and its association with COVID-19 severity across various populations. METHODS: In total, 200 individuals were sequenced for the ACE2 gene and potential impact of the found variants on the ACE2 protein was assessed using in-silico tools. RESULTS: Eight variations in the ACE2 gene were identified in 27 COVID-19 patients, of which four were missense and four were intronic variants. Three variants had a MAF of < 0.01 (c.251C > T, p.Pro86Leu; 15C > G, p.S5S; and c. 91 A > G, p.Lys31Glu). A missense variant, p.Pro86Leu, C > T, TT genotype, was found in 9 out of 200 individuals with an allele frequency of 0.045 and showed a significant association with COVID-19 (P = 0.003). The heterozygous allele of 15C > G, p.S5S, was found with a frequency of 0.02 (8/400) in eight patients, and its CG genotype showed a significant association with COVID-19 (P = 0.0068). The remaining identified variants were not associated with COVID-19 susceptibility. CONCLUSION: The ACE2 gene sequence in Pakistani individuals exhibited a low frequency of identified variants in COVID-19 patients. Overall, only two variants were associated with susceptibility to the disease, possibly contributing to Pakistan's lower COVID-19 mortality and infection rates. However, individuals carrying the mutant variant experienced more severe symptoms. |
format | Online Article Text |
id | pubmed-10550763 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-105507632023-10-06 Impact of ACE2 gene variations on COVID-19 pathogenicity in Pakistani patients Waryah, Yar Muhammad Khidri, Feriha Fatima Nigar, Roohi Devrajani, Tarachand Rajput, Ali Raza Waryah, Ali Muhammad Ujjan, Ikram Din Saudi J Biol Sci Original Article BACKGROUND: COVID-19, caused by the SARS-CoV-2 virus, swiftly disseminated and was declared a pandemic. Variations in the ACE2 gene can impact the virus's ability to bind to ACE2 receptor, potentially influencing an individual's susceptibility and its association with COVID-19 severity across various populations. METHODS: In total, 200 individuals were sequenced for the ACE2 gene and potential impact of the found variants on the ACE2 protein was assessed using in-silico tools. RESULTS: Eight variations in the ACE2 gene were identified in 27 COVID-19 patients, of which four were missense and four were intronic variants. Three variants had a MAF of < 0.01 (c.251C > T, p.Pro86Leu; 15C > G, p.S5S; and c. 91 A > G, p.Lys31Glu). A missense variant, p.Pro86Leu, C > T, TT genotype, was found in 9 out of 200 individuals with an allele frequency of 0.045 and showed a significant association with COVID-19 (P = 0.003). The heterozygous allele of 15C > G, p.S5S, was found with a frequency of 0.02 (8/400) in eight patients, and its CG genotype showed a significant association with COVID-19 (P = 0.0068). The remaining identified variants were not associated with COVID-19 susceptibility. CONCLUSION: The ACE2 gene sequence in Pakistani individuals exhibited a low frequency of identified variants in COVID-19 patients. Overall, only two variants were associated with susceptibility to the disease, possibly contributing to Pakistan's lower COVID-19 mortality and infection rates. However, individuals carrying the mutant variant experienced more severe symptoms. Elsevier 2023-10 2023-09-20 /pmc/articles/PMC10550763/ /pubmed/37811480 http://dx.doi.org/10.1016/j.sjbs.2023.103813 Text en © 2023 The Author(s) https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Original Article Waryah, Yar Muhammad Khidri, Feriha Fatima Nigar, Roohi Devrajani, Tarachand Rajput, Ali Raza Waryah, Ali Muhammad Ujjan, Ikram Din Impact of ACE2 gene variations on COVID-19 pathogenicity in Pakistani patients |
title | Impact of ACE2 gene variations on COVID-19 pathogenicity in Pakistani patients |
title_full | Impact of ACE2 gene variations on COVID-19 pathogenicity in Pakistani patients |
title_fullStr | Impact of ACE2 gene variations on COVID-19 pathogenicity in Pakistani patients |
title_full_unstemmed | Impact of ACE2 gene variations on COVID-19 pathogenicity in Pakistani patients |
title_short | Impact of ACE2 gene variations on COVID-19 pathogenicity in Pakistani patients |
title_sort | impact of ace2 gene variations on covid-19 pathogenicity in pakistani patients |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10550763/ https://www.ncbi.nlm.nih.gov/pubmed/37811480 http://dx.doi.org/10.1016/j.sjbs.2023.103813 |
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