{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T19:06:42Z","timestamp":1771960002837,"version":"3.50.1"},"reference-count":37,"publisher":"Public Library of Science (PLoS)","issue":"2","license":[{"start":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T00:00:00Z","timestamp":1771891200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Research and Development Foundation, Ministry of Science and Education, Mongolia","award":["Grant no. 2022\/132"],"award-info":[{"award-number":["Grant no. 2022\/132"]}]}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS One"],"abstract":"<jats:p>\n                    Within a few years after the pandemic outbreak, several of evidence have found to suggest that the genetic factors influence the severity and mortality rate of COVID-19. In particular, the identification of genetic markers that increase the risk of severe or critical COVID-19 is important for public health management during the pandemic. By August 2021, 88.9% of Mongolian population had been vaccinated. Therefore, we conducted this study to compare the polymorphisms of candidate genes by selecting people who developed mild or severe COVID-19 within this vaccinated population. A total of 90 patients with severe COVID-19, 95 patients with mild COVID-19, and 90 asymptomatic patients were participated in present cross-sectional study. rs4646994, rs4240157, rs41423247, rs56149945, rs10052957, rs12329760, rs4303795, rs75603675 and rs17854725 polymorphisms of the\n                    <jats:italic>ACE<\/jats:italic>\n                    ,\n                    <jats:italic>ACE2<\/jats:italic>\n                    ,\n                    <jats:italic>NR3C1<\/jats:italic>\n                    and\n                    <jats:italic>TMPRSS2<\/jats:italic>\n                    genes were genotyped. Genotyping performed by real-time PCR, RFLP and allele-specific PCR methods. Odds ratio, 95% confidence interval, p value were calculated using logistic regression analysis. SNP-SNP interaction were explored using multi-dimensional reduction analysis. P values for multivariate model was corrected by Bonferroni correction. Totally 10 polymorphisms of above-mentioned genes were genotyped among the groups. Only A\/C genotype frequencies of rs75603675 were significantly different between groups. Compared with mild COVID-19 group, the participants who carrying A\/C genotype of rs75603675 had 3.58-fold (95% CI, 1.38\u20139.29, p\u2009=\u20090.009) higher risk for severe COVID-19. In addition, the synergistic interaction (RERI\u2009=\u20092.573; AP\u2009=\u20090.934; S = 8.352) was observed between D\/D or I\/D genotype of rs4646994 and A\/C genotype of rs75603675, which combination (OR=4.88, 95% CI, 1.38\u201318.01, p\u2009=\u20090.014, Power\u2009=\u200991.1%) was associated with increased risk of severe COVID-19 after Bonferroni correction. Our result suggesting that the combination of rs4646994 of the\n                    <jats:italic>ACE<\/jats:italic>\n                    gene and rs75603675 of the\n                    <jats:italic>TMPRSS2<\/jats:italic>\n                    gene is associated with increased risk of severe COVID-19.\n                  <\/jats:p>","DOI":"10.1371\/journal.pone.0343590","type":"journal-article","created":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T18:24:31Z","timestamp":1771957471000},"page":"e0343590","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":0,"title":["The synergistic interaction between ACE and TMPRSS2 polymorphisms increases the risk of severe COVID-19"],"prefix":"10.1371","volume":"21","author":[{"given":"Odonchimeg","family":"Bayaraa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chimedlkhamsuren","family":"Ganbold","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8164-681X","authenticated-orcid":true,"given":"Bayarlakh","family":"Byambadorj","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1467-1169","authenticated-orcid":true,"given":"Zolzaya","family":"Battulga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ichinnorov","family":"Dashtseren","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3032-4490","authenticated-orcid":true,"given":"Sarantuya","family":"Jav","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2026,2,24]]},"reference":[{"key":"pone.0343590.ref001"},{"key":"pone.0343590.ref002","first-page":"100149","article-title":"Mass testing for COVID-19 in Ulaanbaatar, Mongolia: \u201cOne door-one test\u201d approach","volume":"9","author":"J Dorjdagva","year":"2021","journal-title":"Lancet Reg Health West Pac"},{"key":"pone.0343590.ref003","doi-asserted-by":"crossref","first-page":"105426","DOI":"10.1016\/j.meegid.2023.105426","article-title":"Genetic susceptibility to severe COVID-19","volume":"110","author":"C Cappadona","year":"2023","journal-title":"Infect Genet Evol"},{"key":"pone.0343590.ref004","doi-asserted-by":"crossref","first-page":"146674","DOI":"10.1016\/j.gene.2022.146674","article-title":"The association of COVID-19 severity and susceptibility and genetic risk factors: a systematic review of the literature","volume":"836","author":"A Ishak","year":"2022","journal-title":"Gene"},{"issue":"1","key":"pone.0343590.ref005","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1007\/s12016-022-08921-5","article-title":"Risk and protective factors for COVID-19 morbidity, severity, and mortality","volume":"64","author":"J-J Zhang","year":"2023","journal-title":"Clin Rev Allergy Immunol"},{"issue":"9","key":"pone.0343590.ref006","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1038\/s41576-022-00478-5","article-title":"The human genetic epidemiology of COVID-19","volume":"23","author":"MEK Niemi","year":"2022","journal-title":"Nat Rev Genet"},{"issue":"1","key":"pone.0343590.ref007","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1186\/s12985-023-02091-2","article-title":"Angiotensin-converting enzyme 2 (ACE2) polymorphisms and susceptibility of severe SARS-CoV-2 in a subset of Pakistani population","volume":"20","author":"SK Sidhwani","year":"2023","journal-title":"Virol J"},{"issue":"1","key":"pone.0343590.ref008","doi-asserted-by":"crossref","first-page":"21491","DOI":"10.1038\/s41598-022-26072-7","article-title":"ACE2 polymorphisms impact COVID-19 severity in obese patients","volume":"12","author":"N Jalaleddine","year":"2022","journal-title":"Sci Rep"},{"issue":"11","key":"pone.0343590.ref009","article-title":"Strong association of angiotensin converting enzyme-2 gene insertion\/deletion polymorphism with susceptibility to SARS-CoV-2, hypertension, coronary artery disease and COVID-19 disease mortality","volume":"11","author":"MM Mir","year":"2021","journal-title":"J Pers Med"},{"issue":"19","key":"pone.0343590.ref010","doi-asserted-by":"crossref","DOI":"10.3390\/ijerph191912622","article-title":"Association of ACE2 Gene Variants with the Severity of COVID-19 Disease-A Prospective Observational Study","volume":"19","author":"J Sienko","year":"2022","journal-title":"Int J Environ Res Public Health"},{"key":"pone.0343590.ref011","doi-asserted-by":"crossref","unstructured":"Marei YE-S, Bayoumy AA, Nassar HMA, Mansour B, Hamady AB. The relation between ACE gene polymorphism and the severity of COVID-19 infection. 62(suppl 67):PA5100.","DOI":"10.1183\/13993003.congress-2023.PA5100"},{"issue":"1","key":"pone.0343590.ref012","doi-asserted-by":"crossref","first-page":"1058","DOI":"10.1038\/s42003-023-05317-9","article-title":"Calpeptin is a potent cathepsin inhibitor and drug candidate for SARS-CoV-2 infections","volume":"6","author":"PYA Reinke","year":"2023","journal-title":"Commun Biol"},{"issue":"2","key":"pone.0343590.ref013","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0281750","article-title":"TMPRSS2 polymorphism (rs12329760) and the severity of the COVID-19 in Iranian population","volume":"18","author":"A Yaghoobi","year":"2023","journal-title":"PLoS One"},{"issue":"4","key":"pone.0343590.ref014","doi-asserted-by":"crossref","first-page":"1479","DOI":"10.1007\/s10753-015-0123-3","article-title":"The NR3C1 glucocorticoid receptor gene polymorphisms may modulate the TGF-beta mRNA expression in asthma patients","volume":"38","author":"M Panek","year":"2015","journal-title":"Inflammation"},{"issue":"1","key":"pone.0343590.ref015","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1186\/1465-9921-8-88","article-title":"Glucocorticoid receptor gene polymorphisms associated with progression of lung disease in young patients with cystic fibrosis","volume":"8","author":"H Corvol","year":"2007","journal-title":"Respir Res"},{"issue":"8","key":"pone.0343590.ref016","doi-asserted-by":"crossref","first-page":"3507","DOI":"10.1007\/s12010-022-03885-w","article-title":"Association of TMPRSS2 gene polymorphisms with COVID-19 severity and mortality: a case-control study with computational analyses","volume":"194","author":"M Rokni","year":"2022","journal-title":"Appl Biochem Biotechnol"},{"key":"pone.0343590.ref017","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.mgene.2015.04.003","article-title":"Genetic model selection for a case-control study and a meta-analysis","volume":"5","author":"N Horita","year":"2015","journal-title":"Meta Gene"},{"key":"pone.0343590.ref018","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1186\/1742-5573-3-5","article-title":"Measuring additive interaction using odds ratios","volume":"3","author":"L Kalilani","year":"2006","journal-title":"Epidemiol Perspect Innov"},{"key":"pone.0343590.ref019","doi-asserted-by":"crossref","DOI":"10.1016\/j.lanwpc.2023.100760","article-title":"SARS-CoV-2 seroepidemiology in Mongolia, 2020\u20132021: a longitudinal national study","volume":"36","author":"B Chimeddorj","year":"2023","journal-title":"The Lancet Regional Health \u2013 Western Pacific"},{"issue":"1","key":"pone.0343590.ref020","doi-asserted-by":"crossref","first-page":"44","DOI":"10.3855\/jidc.18138","article-title":"Clinical characteristics and risk factors of non-mild outcomes in patients with Omicron variant COVID-19 in Shanghai, China","volume":"18","author":"W Zhu","year":"2024","journal-title":"J Infect Dev Ctries"},{"key":"pone.0343590.ref021","article-title":"COVID-19 in the post-vaccination era: Who is at risk of severe disease?","author":"C Alonso Bello","year":"2024","journal-title":"J Allergy Infect Dis"},{"issue":"1","key":"pone.0343590.ref022","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/S1473-3099(21)00460-6","article-title":"Risk factors and disease profile of post-vaccination SARS-CoV-2 infection in UK users of the COVID Symptom Study app: a prospective, community-based, nested, case-control study","volume":"22","author":"M Antonelli","year":"2022","journal-title":"Lancet Infect Dis"},{"key":"pone.0343590.ref023","doi-asserted-by":"crossref","first-page":"128060","DOI":"10.1016\/j.vaccine.2025.128060","article-title":"The association between COVID-19 vaccination with the prevalence of post-COVID conditions in Thai patients with mild COVID-19","volume":"71","author":"S Towachiraporn","year":"2026","journal-title":"Vaccine"},{"issue":"10","key":"pone.0343590.ref024","article-title":"Transmembrane protease serine 2 (TMPRSS2) rs75603675, comorbidity, and sex are the primary predictors of COVID-19 severity","volume":"5","author":"G Villapalos-Garc\u00eda","year":"2022","journal-title":"Life Sci Alliance"},{"key":"pone.0343590.ref025","doi-asserted-by":"crossref","first-page":"102039","DOI":"10.1016\/j.genrep.2024.102039","article-title":"Missense variant rs75603675 within TMPRSS2 gene is associated with the increased risk of severe form of COVID-19","volume":"37","author":"AA Saba","year":"2024","journal-title":"Gene Rep"},{"key":"pone.0343590.ref026","doi-asserted-by":"crossref","first-page":"1335963","DOI":"10.3389\/fimmu.2024.1335963","article-title":"The fatal contribution of serine protease-related genetic variants to COVID-19 outcomes","volume":"15","author":"LE Mart\u00ednez-G\u00f3mez","year":"2024","journal-title":"Front Immunol"},{"key":"pone.0343590.ref027","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.biochi.2024.05.004","article-title":"In silico evidence that substitution of glycine for valine (p.G8V) in a common variant of TMPRSS2 isoform 1 increases accessibility to an endocytic signal: Implication for SARS-cov-2 entry into host cells and susceptibility to COVID-19","volume":"225","author":"M Calcagnile","year":"2024","journal-title":"Biochimie"},{"issue":"3","key":"pone.0343590.ref028","doi-asserted-by":"crossref","first-page":"112","DOI":"10.5603\/AH.a2021.0018","article-title":"ACE gene I\/D polymorphism and severity of SARS-CoV-2 infection in hospitalized patients: a meta-analysis","volume":"25","author":"TJ Oscanoa","year":"2021","journal-title":"Arterial Hypertension"},{"key":"pone.0343590.ref029","doi-asserted-by":"crossref","first-page":"4540287","DOI":"10.1155\/2023\/4540287","article-title":"The relation between ACE gene polymorphism and the severity of COVID-19 infection","volume":"2023","author":"Y El-Sayed Marei","year":"2023","journal-title":"Int J Microbiol"},{"issue":"3","key":"pone.0343590.ref030","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.jobb.2023.07.005","article-title":"Allelic and genotypic analysis of the ACE I\/D polymorphism for the possible prediction of COVID-19-related mortality and morbidity in Jordanian Arabs","volume":"5","author":"LN Al-Eitan","year":"2023","journal-title":"J Biosaf Biosecur"},{"issue":"4","key":"pone.0343590.ref031","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1007\/s40615-020-00853-0","article-title":"Ethnic Prevalence of Angiotensin-Converting Enzyme Deletion (D) Polymorphism and COVID-19 Risk: Rationale for Use of Angiotensin-Converting Enzyme Inhibitors\/Angiotensin Receptor Blockers","volume":"8","author":"R Sarangarajan","year":"2021","journal-title":"J Racial Ethn Health Disparities"},{"issue":"5","key":"pone.0343590.ref032","doi-asserted-by":"crossref","first-page":"1174","DOI":"10.2353\/ajpath.2008.070762","article-title":"Angiotensin II up-regulates angiotensin I-converting enzyme (ACE), but down-regulates ACE2 via the AT1-ERK\/p38 MAP kinase pathway","volume":"172","author":"V Koka","year":"2008","journal-title":"Am J Pathol"},{"key":"pone.0343590.ref033","doi-asserted-by":"crossref","first-page":"335","DOI":"10.3389\/fmed.2020.00335","article-title":"ACE\/ACE2 ratio: a key also in 2019 coronavirus disease (Covid-19)?","volume":"7","author":"P Pagliaro","year":"2020","journal-title":"Front Med (Lausanne)"},{"key":"pone.0343590.ref034","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/j.ejim.2020.04.037","article-title":"The pivotal link between ACE2 deficiency and SARS-CoV-2 infection","volume":"76","author":"P Verdecchia","year":"2020","journal-title":"Eur J Intern Med"},{"key":"pone.0343590.ref035","doi-asserted-by":"crossref","first-page":"117905","DOI":"10.1016\/j.lfs.2020.117905","article-title":"Protective role of ACE2 and its downregulation in SARS-CoV-2 infection leading to Macrophage activation syndrome: therapeutic implications","volume":"256","author":"N Banu","year":"2020","journal-title":"Life Sci"},{"issue":"1","key":"pone.0343590.ref036","doi-asserted-by":"crossref","first-page":"9658","DOI":"10.1038\/s41598-021-88944-8","article-title":"Association between ACE2 and TMPRSS2 nasopharyngeal expression and COVID-19 respiratory distress","volume":"11","author":"\u00c1D Rossi","year":"2021","journal-title":"Sci Rep"},{"key":"pone.0343590.ref037","doi-asserted-by":"crossref","unstructured":"Grisard HBDS, Sch\u00f6rner MA, Barazzetti FH, Wachter JK, Valmorbida M, Wagner G. 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