Association between genetic polymorphisms of methylenetetrahydrofolate reductase and congenital heart disease in Slovak population
Authors:
M. Záhorec 1; D. Ilenčíková 2; S. Požgayová 2; P. Olejník 3; P. Škrak 1; Ľ. Kováčiková 1; L. Kovács 2; J. Mašura 3
Authors‘ workplace:
Oddelenie anestéziológie a intenzívnej medicíny, Detské kardiocentrum, Národný ústav srdcových a cievnych chorôb, Bratislava
primárka doc. MUDr. Ľ. Kováčiková, PhD.
1; Laboratórium klinickej a molekulovej genetiky, II. detská klinika Lekárskej fakulty Univerzity Komenského a Detskej fakultnej nemocnice s poliklinikou, Bratislava
prednosta prof. MUDr. L. Kovács, DrSc., MPH
2; Klinika detskej kardiológie Lekárskej fakulty Univerzity Komenského, Detské kardiocentrum, Národný ústav srdcových cievnych chorôb, Bratislava
prednosta prof. MUDr. J. Mašura, CSc.
3
Published in:
Čes-slov Pediat 2015; 70 (5): 267-272.
Category:
Original Papers
Overview
Background:
Maternal periconceptual folic acid supplementation is associated with decreased risk of congenital heart disease (CHD) in offspring. Methylenetetrahydrofolate reductase (MTHFR) gene 677 C→T and 1298 A→C polymorphisms influence folic acid metabolism and in some studies are associated with increased risk of CHD. We sought to determine periconceptual folic acid supplementation in Slovak mothers of offspring with CHD and to investigate association between MTHFR 677 C→T and 1298 A→C polymorphisms and CHD risk.
Methods:
Between 2011 and 2014, 204 children with CHD, 144 mothers of CHD cases and 144 controls were prospectively evaluated for MTHFR 677 C→T and 1298 A→C polymorphisms.
Results:
Among cases with CHD, the 677TT genotype tended to occur less frequently than in control group (OR=0.42, 95% CI 0.18–1.01; p=0.06). Analysis revealed reduced prevalence of 1298CT and 1298CC genotypes in mothers of CHD patients when compared to controls (OR=0.51, 95% CI 0.31–0.84; p=0.009 resp. OR=0.78, 95% CI 0.13–1.04; p=0.06).
Periconceptual supplementation of multivitamins with folic acid content was observed in 18.1 % of case mothers. Multivitamins intake increased to 67.4 % in this group after pregnancy was confirmed (p<0.0001). Maternal periconceptual smoking was associated with lower use of multivitamin supplements compared to non-smokers (6.5% vs. 21.8%; p=0.035).
Conclusion:
We found no evidence that embryonic or maternal MTHFR gene polymorphisms that directly cause lower levels of plasma folate are associated with increased risk of CHD in Slovak population. On the contrary, some of those polymorphisms occurred less frequently in CHD population. Periconceptual multivitamin supplementation was observed in less than one fifth of mothers.
Key words:
folic acid, congenital heart disease, methylenetetrahydrofolate reductase, gene polymorphism, prevention Z.
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Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2015 Issue 5
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