Incidence of thrombophilic gene polymorphism (MTHFR C677T) in Egyptian COVID-19 patients and its clinical implications
Abstract Background COVID-19 has an important component of organ damage which is COVID-19-associated coagulopathy. It is necessary to assess the risk in patients to develop a thrombophylaxis plan. The higher prevalence of key thrombophilic genetic variants, such as mutation of the C677T-methylenetet...
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| Format: | Article |
| Language: | English |
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SpringerOpen
2023-11-01
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| Series: | The Egyptian Journal of Bronchology |
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| Online Access: | https://doi.org/10.1186/s43168-023-00246-x |
| _version_ | 1797453619293847552 |
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| author | Eman Badawy Abdelfattah Sahar Samir Abdelmaksoud Heba Mohamed Shalaby Saad Shehata Abo-zid Mahmoud M. Aboulmagd M. Youssef Ahmed Ali Elshebiny Hieba Gamal Ezzelregal |
| author_facet | Eman Badawy Abdelfattah Sahar Samir Abdelmaksoud Heba Mohamed Shalaby Saad Shehata Abo-zid Mahmoud M. Aboulmagd M. Youssef Ahmed Ali Elshebiny Hieba Gamal Ezzelregal |
| author_sort | Eman Badawy Abdelfattah |
| collection | DOAJ |
| description | Abstract Background COVID-19 has an important component of organ damage which is COVID-19-associated coagulopathy. It is necessary to assess the risk in patients to develop a thrombophylaxis plan. The higher prevalence of key thrombophilic genetic variants, such as mutation of the C677T-methylenetetrahydrofolate reductase (MTHFR) gene in Eastern Mediterranean countries, makes it challenging to use the same criteria in other world countries with differing thrombophilic panels. Objective To find the incidence of MTHFR gene polymorphism in a cohort of Egyptian patients with COVID-19, and its association with thromboembolic events. Subjects and methods This was a prospective observational cohort study, done at Ain-Shams University isolation Hospitals, Cairo, Egypt. It included 33 patients with COVID-19 and 13 healthy controls. The patients underwent lab investigations: HRCT chest in which the extent of radiological affection was described in terms of severe form (> 50% of lungs are affected) and non-severe form (< 50% of lungs are affected) and assessment of MTHFR-C677T genotypes. Then follow-up for 28 days for vascular thrombotic manifestations. Results Out of 33 patients, MTHFR-gene mutation was found in 10 (incidence rate 30.3%). Severe form of affection in the HRCT chest was significantly related to mutation of the MTHFR gene (P value = 0.009). Patient cure and discharge were significantly related to the absence of mutation of MTHFR-gene (P value = 0.025), whereas death and radiological evidence of thrombosis were significantly related to the presence of MTHFR-gene mutation (P value = 0.027 and 0.022 respectively). Age > 55 years (60% sensitivity, 100% specificity, PPV 100%), albumin ≤ 3.2 gm/dl (50% sensitivity, 95.65% specificity, PPV83.3%), and ferritin > 453 ng/L (70% sensitivity, 82.61% specificity, PPV 63.6%) were predictors of mutation of MTHFR-gene. Conclusion Incidence of mutation of MTHFR-gene was 30.3% in COVID-19 patients. Results suggest a potential association between inherited MTHFR gene mutation and severe form of COVID-19, thromboembolic events, and mortality. Trial registration ClinicalTrials.gov ID: NCT05679414. https://register.clinicaltrials.gov/prs/app/action/SelectProtocol?sid=S000CU2V&selectaction=Edit&uid=U00056R5&ts=2&cx=lrrb7q . Retrospectively registered. 9th Jan 2023. |
| first_indexed | 2024-03-09T15:25:26Z |
| format | Article |
| id | doaj.art-8f851e5b18964a059263774ee9513f88 |
| institution | Directory Open Access Journal |
| issn | 2314-8551 |
| language | English |
| last_indexed | 2024-03-09T15:25:26Z |
| publishDate | 2023-11-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | The Egyptian Journal of Bronchology |
| spelling | doaj.art-8f851e5b18964a059263774ee9513f882023-11-26T12:33:51ZengSpringerOpenThe Egyptian Journal of Bronchology2314-85512023-11-0117111010.1186/s43168-023-00246-xIncidence of thrombophilic gene polymorphism (MTHFR C677T) in Egyptian COVID-19 patients and its clinical implicationsEman Badawy Abdelfattah0Sahar Samir Abdelmaksoud1Heba Mohamed Shalaby2Saad Shehata Abo-zid3Mahmoud M. Aboulmagd M. Youssef4Ahmed Ali Elshebiny5Hieba Gamal Ezzelregal6Chest Department, Faculty of Medicine, Ain Shams UniversityClinical Pathology Department, Ain Shams UniversityChest Department, Faculty of Medicine, Ain Shams UniversityPaediatric Medicine, Damanhur Medical National InstituteMUST Faculty of MedicineAnesthesiology Department. Faculty of Medicine, Ain Shams UniversityChest Department, Faculty of Medicine, Ain Shams UniversityAbstract Background COVID-19 has an important component of organ damage which is COVID-19-associated coagulopathy. It is necessary to assess the risk in patients to develop a thrombophylaxis plan. The higher prevalence of key thrombophilic genetic variants, such as mutation of the C677T-methylenetetrahydrofolate reductase (MTHFR) gene in Eastern Mediterranean countries, makes it challenging to use the same criteria in other world countries with differing thrombophilic panels. Objective To find the incidence of MTHFR gene polymorphism in a cohort of Egyptian patients with COVID-19, and its association with thromboembolic events. Subjects and methods This was a prospective observational cohort study, done at Ain-Shams University isolation Hospitals, Cairo, Egypt. It included 33 patients with COVID-19 and 13 healthy controls. The patients underwent lab investigations: HRCT chest in which the extent of radiological affection was described in terms of severe form (> 50% of lungs are affected) and non-severe form (< 50% of lungs are affected) and assessment of MTHFR-C677T genotypes. Then follow-up for 28 days for vascular thrombotic manifestations. Results Out of 33 patients, MTHFR-gene mutation was found in 10 (incidence rate 30.3%). Severe form of affection in the HRCT chest was significantly related to mutation of the MTHFR gene (P value = 0.009). Patient cure and discharge were significantly related to the absence of mutation of MTHFR-gene (P value = 0.025), whereas death and radiological evidence of thrombosis were significantly related to the presence of MTHFR-gene mutation (P value = 0.027 and 0.022 respectively). Age > 55 years (60% sensitivity, 100% specificity, PPV 100%), albumin ≤ 3.2 gm/dl (50% sensitivity, 95.65% specificity, PPV83.3%), and ferritin > 453 ng/L (70% sensitivity, 82.61% specificity, PPV 63.6%) were predictors of mutation of MTHFR-gene. Conclusion Incidence of mutation of MTHFR-gene was 30.3% in COVID-19 patients. Results suggest a potential association between inherited MTHFR gene mutation and severe form of COVID-19, thromboembolic events, and mortality. Trial registration ClinicalTrials.gov ID: NCT05679414. https://register.clinicaltrials.gov/prs/app/action/SelectProtocol?sid=S000CU2V&selectaction=Edit&uid=U00056R5&ts=2&cx=lrrb7q . Retrospectively registered. 9th Jan 2023.https://doi.org/10.1186/s43168-023-00246-xCOVID-19EgyptMTHFR gene mutationThromboembolismOutcome |
| spellingShingle | Eman Badawy Abdelfattah Sahar Samir Abdelmaksoud Heba Mohamed Shalaby Saad Shehata Abo-zid Mahmoud M. Aboulmagd M. Youssef Ahmed Ali Elshebiny Hieba Gamal Ezzelregal Incidence of thrombophilic gene polymorphism (MTHFR C677T) in Egyptian COVID-19 patients and its clinical implications The Egyptian Journal of Bronchology COVID-19 Egypt MTHFR gene mutation Thromboembolism Outcome |
| title | Incidence of thrombophilic gene polymorphism (MTHFR C677T) in Egyptian COVID-19 patients and its clinical implications |
| title_full | Incidence of thrombophilic gene polymorphism (MTHFR C677T) in Egyptian COVID-19 patients and its clinical implications |
| title_fullStr | Incidence of thrombophilic gene polymorphism (MTHFR C677T) in Egyptian COVID-19 patients and its clinical implications |
| title_full_unstemmed | Incidence of thrombophilic gene polymorphism (MTHFR C677T) in Egyptian COVID-19 patients and its clinical implications |
| title_short | Incidence of thrombophilic gene polymorphism (MTHFR C677T) in Egyptian COVID-19 patients and its clinical implications |
| title_sort | incidence of thrombophilic gene polymorphism mthfr c677t in egyptian covid 19 patients and its clinical implications |
| topic | COVID-19 Egypt MTHFR gene mutation Thromboembolism Outcome |
| url | https://doi.org/10.1186/s43168-023-00246-x |
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