Analysis of ACE2 and TMPRSS2 coding variants as a risk factor for SARS-CoV-2 from 946 whole-exome sequencing data in the Turkish population.


Journal

Journal of medical virology
ISSN: 1096-9071
Titre abrégé: J Med Virol
Pays: United States
ID NLM: 7705876

Informations de publication

Date de publication:
11 2022
Historique:
revised: 14 06 2022
received: 01 05 2022
accepted: 02 07 2022
pubmed: 12 7 2022
medline: 15 9 2022
entrez: 11 7 2022
Statut: ppublish

Résumé

Heterogeneity in symptoms associated with COVID-19 in infected patients remains unclear. ACE2 and TMPRSS2 gene variants are considered possible risk factors for COVID-19. In this study, a retrospective comparative genome analysis of the ACE2 and TMPRSS2 variants from 946 whole-exome sequencing data was conducted. Allele frequencies of all variants were calculated and filtered to remove variants with allele frequencies lower than 0.003 and to prioritize functional coding variants. The majority of detected variants were intronic, only two ACE2 and three TMPRSS2 nonsynonymous variants were detected in the analyzed cohort. The main ACE2 variants that putatively have a protective or susceptibility effect on SARS-CoV-2 have not yet been determined in the Turkish population. The Turkish genetic makeup likely lacks any ACE2 variant that increases susceptibility to SARS-CoV-2 infection. TMPRSS2 rs75603675 and rs12329760 variants that were previously defined as common variants that have different allele frequencies among populations and may have a role in SARS-CoV-2 attachment to host cells were determined in the population. Overall, these data will contribute to the formation of a national variation database and may also contribute to further studies of ACE2 and TMPRSS2 in the Turkish population and differences in SARS-CoV-2 infection among other populations.

Identifiants

pubmed: 35811452
doi: 10.1002/jmv.27976
pmc: PMC9349697
doi:

Substances chimiques

Peptidyl-Dipeptidase A EC 3.4.15.1
ACE2 protein, human EC 3.4.17.23
Angiotensin-Converting Enzyme 2 EC 3.4.17.23
Serine Endopeptidases EC 3.4.21.-
TMPRSS2 protein, human EC 3.4.21.-

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

5225-5243

Commentaires et corrections

Type : ErratumIn

Informations de copyright

© 2022 Wiley Periodicals LLC.

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Auteurs

Nilgun Duman (N)

Department of Medical Genetics, Faculty of Medicine, Bezmialem Vakif University, Istanbul, Turkey.

Gulten Tuncel (G)

DESAM Research Institute, Near East University, Nicosia, Cyprus.

Atil Bisgin (A)

Department of Medical Genetics, Faculty of Medicine, Çukurova University, Adana, Turkey.
AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center), Cukurova University, Adana, Turkey.

Sevcan Tug Bozdogan (ST)

Department of Medical Genetics, Faculty of Medicine, Çukurova University, Adana, Turkey.
AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center), Cukurova University, Adana, Turkey.

Sebnem Ozemri Sag (SO)

Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey.

Seref Gul (S)

Department of Biology, Biotechnology Division, Faculty of Sciences, Istanbul University, Istanbul, Turkey.

Aslihan Kiraz (A)

Department of Medical Genetics, Kayseri Education and Research State Hospital, Kayseri, Turkey.

Burhan Balta (B)

Department of Medical Genetics, Kayseri Education and Research State Hospital, Kayseri, Turkey.

Murat Erdogan (M)

Department of Medical Genetics, Kayseri Education and Research State Hospital, Kayseri, Turkey.

Bulent Uyanik (B)

Department of Medical Genetics, Istanbul Bakırkoy Dr. Sadi Konuk Education and Research Hospital, Istanbul, Turkey.

Sezin Canbek (S)

Department of Medical Genetics, Umraniye City Hospital, Istanbul, Turkey.

Pinar Ata (P)

Department of Medical Genetics, Faculty of Medicine, Marmara University, Istanbul, Turkey.

Bilgen Bilge Geckinli (BB)

Department of Medical Genetics, Faculty of Medicine, Marmara University, Istanbul, Turkey.

Esra Arslan Ates (E)

Department of Medical Genetics, Faculty of Medicine, Marmara University, Istanbul, Turkey.

Ceren Alavanda (C)

Department of Medical Genetics, Faculty of Medicine, Marmara University, Istanbul, Turkey.

Sevda Yesim Ozdemir (S)

Department of Medical Genetics, Faculty of Medicine, Uskudar University, İstanbul, Turkey.

Ozlem Sezer (O)

Department of Medical Genetics, Samsun Education and Research Hospital, Samsun, Turkey.

Gulay Oner Ozgon (GO)

Nesiller Genetic Diagnosis Center, Istanbul, Turkey.

Hakan Gurkan (H)

Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey.

Kubra Guler (K)

Mikrogen Genetic Diagnostic Center, Ankara, Turkey.

Ibrahim Boga (I)

Department of Medical Genetics, Faculty of Medicine, Çukurova University, Adana, Turkey.
AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center), Cukurova University, Adana, Turkey.

Niyazi Kaya (N)

Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey.

Adem Alemdar (A)

Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey.

Murat Sayan (M)

DESAM Research Institute, Near East University, Nicosia, Cyprus.
PCR Unit, Kocaeli University Education and Research Hospital, Kocaeli, Turkey.

Munis Dundar (M)

Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.

Mahmut Cerkez Ergoren (MC)

DESAM Research Institute, Near East University, Nicosia, Cyprus.
Department of Medical Genetics, Faculty of Medicine, Near East University, Nicosia, Cyprus.

Sehime Gulsun Temel (SG)

Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey.
Department of Medical Genetics, Faculty of Medicine, Near East University, Nicosia, Cyprus.
Department of Histology and Embryology, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey.
Department of Translational Medicine, Institute of Health Sciences, Bursa Uludag University, Bursa, Turkey.

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