Association between Fetal MTHFR A1298C (rs1801131) Polymorphism and Neural Tube Defects Risk: A Systematic Review and Meta-Analysis

Soleimani-Jadidi, Sara; Meibodi, Bahare; Javaheri, Atiyeh; Tabatabaei, Razieh Sadat; Hadadan, Amaneh; Zanbagh, Leila; Abbasi, Hajar; Bahrami, Reza; Mirjalili, Seyed Reza; Karimi-Zarchi, Mojgan; Neámatzadeh, Hossein

doi:10.1080/15513815.2020.1764682

Cited by 4 publications

(2 citation statements)

References 44 publications

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“…C677T homozygosity and compound heterozygosity in the mother increase the risk of developing neural tube defects [9]. MTHFR A1298C may also be associated with neural tube defects, especially in the presence of low folate levels [1], but this mutation alone has no significant increase in the risk [9]; recent meta-analysis suggested no association between these conditions [13]. Orofacial clefts, congenital heart defects, and fetal anticonvulsant syndrome could also be associated with MTHFR C677T mutation, but more data are required [2,9,11].…”

Section: Introductionmentioning

confidence: 99%

Consistent Correlation between MTHFR and Vascular Thrombosis in Neonates—Case Series and Clinical Considerations

Cîrstoveanu

Calin

Herișeanu

et al. 2023

JCM

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Background: MTHFR polymorphism has been inconsistently linked to thrombotic events—some studies have shown its contribution to venous thrombosis, arterial thrombosis, and ischemic stroke, whereas others have found no statistically significant correlation between them. Methods: A descriptive case series study was performed in the Neonatal Intensive Care Unit of “Marie Sklodowska Curie” Emergency Clinical Hospital for Children in Bucharest, Romania. Results: All patients had positive results for MTHFR variants; 14 patients were positive for compound heterozygosity, 13 patients for MTHFR C677T (seven of which were homozygous), and 13 patients for MTHFR A1298C (three of which were homozygous). Eighteen patients received anticoagulants (heparin, enoxaparin, or bivalirudin), and thrombolytics (alteplase) were administered in six cases. In one case, a thrombectomy was performed; in another, vascular plasty was undertaken. Only in six cases was complete revascularization possible. Incomplete revascularization occurred for one patient with a negative outcome. Conclusion: The particularity of this case series is that every patient in our unit who developed thrombi had a positive genetic result for MTHFR mutations. MTHFR mutations should be regarded as a thrombotic risk factor for critically ill patients, and screening for MTHFR mutations should be performed in every admitted patient to intensive care units, thus achieving the prevention of thrombi.

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Section: Introductionmentioning

confidence: 99%

Consistent Correlation between MTHFR and Vascular Thrombosis in Neonates—Case Series and Clinical Considerations

Cîrstoveanu

Calin

Herișeanu

et al. 2023

JCM

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show abstract

“…Folate and other B vitamins play important roles in the one-carbon metabolism pathway, which is associated with DNA methylation, synthesis and impaired DNA repair (Pan et al, 2019). The enzyme 5,10-methylenetetrahydrofolate reductase (MTHFR) is involved in the circulation form of folate as it catalyzes the irreversible reduction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate (Maruti et al, 2009;Soleimani-Jadidi et al, 2020;Tabatabaei et al, 2020).…”

Section: Introductionmentioning

confidence: 99%

Associations of MTHFR rs1801133 (677C>T) and rs180113 (1298A>C) Polymorphisms with Susceptibility to Bladder Cancer: A Systematic Review and Meta-Analysis

Farshid

Alijanpour

Barahman

et al. 2022

Asian Pac J Cancer Prev

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MTHFR and ERVFRD-1 polymorphisms and preeclampsia risk in Iran population: A case-control study

Farahani,

Zargar,

Ameri

et al. 2023

Gene Reports

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Association between Fetal MTHFR A1298C (rs1801131) Polymorphism and Neural Tube Defects Risk: A Systematic Review and Meta-Analysis

Cited by 4 publications

References 44 publications

Consistent Correlation between MTHFR and Vascular Thrombosis in Neonates—Case Series and Clinical Considerations

Consistent Correlation between MTHFR and Vascular Thrombosis in Neonates—Case Series and Clinical Considerations

Associations of MTHFR rs1801133 (677C>T) and rs180113 (1298A>C) Polymorphisms with Susceptibility to Bladder Cancer: A Systematic Review and Meta-Analysis

MTHFR and ERVFRD-1 polymorphisms and preeclampsia risk in Iran population: A case-control study

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