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Title of Journal: Comp Clin Pathol

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Abbravation: Comparative Clinical Pathology

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Springer London

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DOI

10.1007/s10775-008-9143-y

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ISSN

1618-565X

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Maternal and offspring methylenetetrahydrofolate r

Authors: Dina Mohamed ElAbd Reem Nabil Said Baher Matta Hanna Nouran Farouk ELNaggar
Publish Date: 2012/09/25
Volume: 23, Issue: 2, Pages: 317-322
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Abstract

Congenital heart defects CHDs are the most prevalent heart diseases in neonates There is evidence suggesting that the risk of CHDs may be related to the folate status as well as the genetic variants in folaterelated genes Investigating the relationship between methyltetrahydrofolate reductase MTHFR C677T gene polymorphism and CHDs in fullterm neonates and considering the possible protective role of folate supplementation were made This study included 26 cases 18 controls and their biological mothers Echocardiography was performed to all neonates for diagnosis of the type of congenital heart disease Mothers and their off springs were subjected to DNA analysis for MTHFR C677T using polymerase chain reaction restricted fragment length polymorphism An association between maternal p = 0044 and infant p = 0001 MTHFR C677T polymorphism and transposition of great vessels dTGA was found Odds ratio OR for the genotypes CT and TT versus CC was 10 with 95  confidence limits CI 105–9523 and OR 26 with 95  CI 260–25929 respectively Also for the genotypes CT and TT versus CC an association was found between infant MTHFR C677T polymorphism and atrial septal defect p = 0000 OR 364 95  CI 37–35440 ventricular septal defect p = 0025 OR 52 95  CI 12–2304 as well as patent ductus arteriosus p = 0000 OR 338 95  CI 35–33062 Maternal folic acid supplementation proved protective against CHDs MTHFR C677T polymorphism is associated with certain subgroups of CHDs


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