Genetics and environmental risk factors in mothers with affected offspring with folate-sensitive congenital defects
Keywords:
congenital defects, risk factors, fólic acid, hyperhomocysteinemia, genetic polymorphismAbstract
Introduction: Birth defects are a major global health problem.
Objectives: To identify genetic and environmental factors in pregnant women with offspring affected by folate-sensitive congenital defects.
Methods: It was carried out a case-control study in Villa Clara between 2013-2018. It was applied a previously validated questionnaire to 212 mothers of cases with neural tube defects, conotruncal heart disease, cleft lip and palate, gastroschisis and Down syndrome, in addition they were determined the same number of controls to identify risk factors and serum zinc, copper, calcium, iron and magnesium. They were determined homocysteine levels in 100 mothers, and it was performed genotyping of the C677T polymorphism of the MTHFR gene on 173 mothers.
Results: The bivariate and multivariate analyzes showed an association with extreme maternal ages, risk levels of homocysteine, zinc deficiency, high copper levels, multiple micronutrient deficiency, deficient folate consumption, alterations in maternal weight and short intergenesic period. The allelic association studies of the C677T polymorphism of the MTHFR gene constituted a genetic risk factor in the appearance of these defects, whose risk allelic variant was expressed with greater magnitude in the co-dominance and recessive models.
Conclusions: The identification of genetic and environmental risk factors demonstrates the multifactorial component in the etiology of folate-sensitive congenital defects. Environmental risk factors are potentially modifiable, which would encourage primary preconception prevention of highly frequent congenital defects in our environment.Downloads
Published
How to Cite
Issue
Section
License
The journal Anales de la Academia de Ciencias de Cuba protects copyright, and operates with a Creative Commons License 4.0 (Creative Commons Attribution-NonCommercial License 4.0). By publishing in it, authors allow themselves to copy, reproduce, distribute, publicly communicate their work and generate derivative works, as long as the original author is cited and acknowledged. They do not allow, however, the use of the original work for commercial or lucrative purposes.
The authors authorize the publication of their writings, retaining the authorship rights, and assigning and transferring to the magazine all the rights protected by the intellectual property laws that govern in Cuba, which imply editing to disseminate the work.
Authors may establish additional agreements for the non-exclusive distribution of the version of the work published in the journal (for example, placing it in an institutional repository or publishing it in a book), with recognition of having been first published in this journal.
To learn more, see https://creativecommons.org
