Allelic disparities in the extra cellular–super oxide dismutase (EC-SOD) gene and risk of ischemic heart diseases
Abstract Background Superoxide dismutase enzymes (SOD) mainly the extracellular (EC-SOD) are considered prime antioxidants against superoxide anions (O2 •−). EC-SOD R213G mutation has a deleterious effect that disrupts its vascular displacement and allows atherogenesis. Data regarding the EC-SOD gen...
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SpringerOpen
2025-05-01
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| Series: | The Egyptian Journal of Internal Medicine |
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| Online Access: | https://doi.org/10.1186/s43162-025-00452-7 |
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| author | Amal Mackawy |
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| author_sort | Amal Mackawy |
| collection | DOAJ |
| description | Abstract Background Superoxide dismutase enzymes (SOD) mainly the extracellular (EC-SOD) are considered prime antioxidants against superoxide anions (O2 •−). EC-SOD R213G mutation has a deleterious effect that disrupts its vascular displacement and allows atherogenesis. Data regarding the EC-SOD gene with cardiovascular diseases (CVD) and ischemic heart disease (IHD) are scarce. The study aimed to clarify the role of EC-SOD-R213G polymorphism and allelic disparities on its levels as an indicator of arterial wall antioxidant status and vascular integrity to provide insights on its role in IHD among Egyptian patients. A case–control study included eighty subjects categorized into four groups: Group I: 20 controls. Group II:20 with chronic angina. Group III:20 with myocardial infarction (MI) without hypertension (HTN). Group IV:20 MI patients with HTN. Restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) and ELISA techniques were applied. Results A significant association of EC-SOD + 213G genotype and allele frequencies in all patient groups when compared to controls (G allele frequency was 42%, 52%, 57%, and 10%, respectively, P < 0.05) with an odds ratio (OR) of 95% CI = 6.0 (1.6–24.43), 9.0 (2.42–36.47), and 12.18 (3.26–49.7), respectively (P < 0.05). The R and RR genotype frequencies were significantly lower in groups II, III, and IV than in controls (R allele 58%, 48%, 43%, and 90%, respectively, P < 0.05). Plasma EC-SOD levels were significantly increased in IHD patients than in controls, with a nonsignificant change between the two MI patient groups (t = 1.51, P = 0.147). Notably, EC-SOD levels recorded variant values with different R213G allelic variants in all IHD groups (P < 0.01), with a higher increase in GG and RG than RR carriers. Conclusion The EC-SOD gene Arg (213) Gly substitution was associated with an increased risk of IHDs among Egyptian patients. The EC-SOD + 213 R allele was significantly associated with protection from IHDs compared to the G allele. In addition, the EC-SOD heterozygous RG and the homozygous GG carriers were detected to have higher plasma EC-SOD levels with decreased arterial wall concentrations than in noncarriers, which reduces the anti-oxidative protection and increases atherogenic risk, increasing the susceptibility of IHD among Egyptian patients. |
| format | Article |
| id | doaj-art-9fa204d051f74f62a0720cfbe41ebd6f |
| institution | OA Journals |
| issn | 2090-9098 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | SpringerOpen |
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| series | The Egyptian Journal of Internal Medicine |
| spelling | doaj-art-9fa204d051f74f62a0720cfbe41ebd6f2025-08-20T02:34:15ZengSpringerOpenThe Egyptian Journal of Internal Medicine2090-90982025-05-013711910.1186/s43162-025-00452-7Allelic disparities in the extra cellular–super oxide dismutase (EC-SOD) gene and risk of ischemic heart diseasesAmal Mackawy0Department of Medical Laboratories, College of Applied Medical Sciences, Qassim UniversityAbstract Background Superoxide dismutase enzymes (SOD) mainly the extracellular (EC-SOD) are considered prime antioxidants against superoxide anions (O2 •−). EC-SOD R213G mutation has a deleterious effect that disrupts its vascular displacement and allows atherogenesis. Data regarding the EC-SOD gene with cardiovascular diseases (CVD) and ischemic heart disease (IHD) are scarce. The study aimed to clarify the role of EC-SOD-R213G polymorphism and allelic disparities on its levels as an indicator of arterial wall antioxidant status and vascular integrity to provide insights on its role in IHD among Egyptian patients. A case–control study included eighty subjects categorized into four groups: Group I: 20 controls. Group II:20 with chronic angina. Group III:20 with myocardial infarction (MI) without hypertension (HTN). Group IV:20 MI patients with HTN. Restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) and ELISA techniques were applied. Results A significant association of EC-SOD + 213G genotype and allele frequencies in all patient groups when compared to controls (G allele frequency was 42%, 52%, 57%, and 10%, respectively, P < 0.05) with an odds ratio (OR) of 95% CI = 6.0 (1.6–24.43), 9.0 (2.42–36.47), and 12.18 (3.26–49.7), respectively (P < 0.05). The R and RR genotype frequencies were significantly lower in groups II, III, and IV than in controls (R allele 58%, 48%, 43%, and 90%, respectively, P < 0.05). Plasma EC-SOD levels were significantly increased in IHD patients than in controls, with a nonsignificant change between the two MI patient groups (t = 1.51, P = 0.147). Notably, EC-SOD levels recorded variant values with different R213G allelic variants in all IHD groups (P < 0.01), with a higher increase in GG and RG than RR carriers. Conclusion The EC-SOD gene Arg (213) Gly substitution was associated with an increased risk of IHDs among Egyptian patients. The EC-SOD + 213 R allele was significantly associated with protection from IHDs compared to the G allele. In addition, the EC-SOD heterozygous RG and the homozygous GG carriers were detected to have higher plasma EC-SOD levels with decreased arterial wall concentrations than in noncarriers, which reduces the anti-oxidative protection and increases atherogenic risk, increasing the susceptibility of IHD among Egyptian patients.https://doi.org/10.1186/s43162-025-00452-7Cardiovascular diseaseIschemic heart diseaseAngina pectorisHypertensionCellular antioxidantsSuperoxide anions (O2 −) |
| spellingShingle | Amal Mackawy Allelic disparities in the extra cellular–super oxide dismutase (EC-SOD) gene and risk of ischemic heart diseases The Egyptian Journal of Internal Medicine Cardiovascular disease Ischemic heart disease Angina pectoris Hypertension Cellular antioxidants Superoxide anions (O2 −) |
| title | Allelic disparities in the extra cellular–super oxide dismutase (EC-SOD) gene and risk of ischemic heart diseases |
| title_full | Allelic disparities in the extra cellular–super oxide dismutase (EC-SOD) gene and risk of ischemic heart diseases |
| title_fullStr | Allelic disparities in the extra cellular–super oxide dismutase (EC-SOD) gene and risk of ischemic heart diseases |
| title_full_unstemmed | Allelic disparities in the extra cellular–super oxide dismutase (EC-SOD) gene and risk of ischemic heart diseases |
| title_short | Allelic disparities in the extra cellular–super oxide dismutase (EC-SOD) gene and risk of ischemic heart diseases |
| title_sort | allelic disparities in the extra cellular super oxide dismutase ec sod gene and risk of ischemic heart diseases |
| topic | Cardiovascular disease Ischemic heart disease Angina pectoris Hypertension Cellular antioxidants Superoxide anions (O2 −) |
| url | https://doi.org/10.1186/s43162-025-00452-7 |
| work_keys_str_mv | AT amalmackawy allelicdisparitiesintheextracellularsuperoxidedismutaseecsodgeneandriskofischemicheartdiseases |