Relationship between the rs1799752 polymorphism of angiotensin-converting enzyme gene and susceptibility to sepsis in Egyptian patients: A single-center prospective study
Eman Mohamed Abdellatif , Emad Hamdy Hamouda Mohammed , Sally Wassfi Zaki Hammad
{"title":"Relationship between the rs1799752 polymorphism of angiotensin-converting enzyme gene and susceptibility to sepsis in Egyptian patients: A single-center prospective study","authors":"Eman Mohamed Abdellatif , Emad Hamdy Hamouda Mohammed , Sally Wassfi Zaki Hammad","doi":"10.1016/j.humgen.2025.201450","DOIUrl":null,"url":null,"abstract":"<div><h3>Background</h3><div>Early diagnosis of sepsis is a crucial component in improving disease prognosis and reducing mortality. The interindividual variations in susceptibility to sepsis, and in disease outcome, can be affected by several interacting elements including genetic factors. We aimed to investigate the relation of the angiotensin converting enzyme 1 (ACE1) gene polymorphism rs1799752 with the risk of sepsis in adult patients, and its relation with disease severity and prognosis.</div></div><div><h3>Methods</h3><div>In this case-control prospective study, we included 65 adult sepsis patients and 65 control subjects. For all study subjects, blood samples were collected for DNA extraction, followed by polymerase chain reaction for ACE1 rs1799752 genotyping. Clinical, laboratory data, and severity scores were recorded. Patients were followed up, and were divided into survivors (<em>n</em> = 40) and non-survivors (<em>n</em> = 25).</div></div><div><h3>Results</h3><div>DD genotype and D allele were significantly more frequent in sepsis patients than in control group, (<em>p</em> = 0.011, <em>p</em> = 0.022, respectively). Although DD genotype was associated with an increased risk of sepsis in univariate analysis, it was an insignificant risk factor in multivariate analysis (OR 1.455, 95 %CI 0.609–3.476, <em>p</em> = 0.399). SOFA scores and APACHEII scores were significantly higher in patients with DD genotype than other genotypes (<em>p</em> < 0.001). Multivariate regression analysis showed that DD genotype was a significant independent predictor of mortality in the included patients.</div></div><div><h3>Conclusion</h3><div>The current observations revealed a potential prognostic role of the ACE1 insertion/deletion polymorphism in sepsis, where the DD genotype was significantly associated with greater disease severity and higher mortality rates, in comparison with other genotypes.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201450"},"PeriodicalIF":0.5000,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Human Gene","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2773044125000762","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
Abstract
Background
Early diagnosis of sepsis is a crucial component in improving disease prognosis and reducing mortality. The interindividual variations in susceptibility to sepsis, and in disease outcome, can be affected by several interacting elements including genetic factors. We aimed to investigate the relation of the angiotensin converting enzyme 1 (ACE1) gene polymorphism rs1799752 with the risk of sepsis in adult patients, and its relation with disease severity and prognosis.
Methods
In this case-control prospective study, we included 65 adult sepsis patients and 65 control subjects. For all study subjects, blood samples were collected for DNA extraction, followed by polymerase chain reaction for ACE1 rs1799752 genotyping. Clinical, laboratory data, and severity scores were recorded. Patients were followed up, and were divided into survivors (n = 40) and non-survivors (n = 25).
Results
DD genotype and D allele were significantly more frequent in sepsis patients than in control group, (p = 0.011, p = 0.022, respectively). Although DD genotype was associated with an increased risk of sepsis in univariate analysis, it was an insignificant risk factor in multivariate analysis (OR 1.455, 95 %CI 0.609–3.476, p = 0.399). SOFA scores and APACHEII scores were significantly higher in patients with DD genotype than other genotypes (p < 0.001). Multivariate regression analysis showed that DD genotype was a significant independent predictor of mortality in the included patients.
Conclusion
The current observations revealed a potential prognostic role of the ACE1 insertion/deletion polymorphism in sepsis, where the DD genotype was significantly associated with greater disease severity and higher mortality rates, in comparison with other genotypes.