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Congenital heart defects and biomarkers of methylation in children: a case-control study

Sylvia A Obermann-Borst1, Lydi M J W van Driel, Willem A Helbing

  • 1Department of Obstetrics and Gynaecology/Division of Obstetrics and Prenatal Medicine, Erasmus MC, University Medical Centre, Rotterdam, the Netherlands.

European Journal of Clinical Investigation
|September 28, 2010
PubMed

Insights

Maternal methylation pathway derangements are linked to congenital heart defects (CHD). Studies show higher methylation biomarkers in children with complex CHD, suggesting a potential link to global hypomethylation, especially in Down syndrome cases.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Maternal methylation pathway disruptions, including hypomethylation and hyperhomocysteinemia, are associated with congenital heart defect (CHD) risk.
  • The role of periconception exposure to these metabolic issues in fetal chromosome segregation and metabolic programming remains unclear.

Purpose of the Study:

  • To investigate the association between maternal methylation pathway biomarkers and CHD in offspring.
  • To explore potential differences in methylation status between children with and without CHD, including specific subtypes like Down syndrome.

Main Methods:

  • A Dutch population-based case-control study involving 143 children with CHD and 186 controls.
  • Analysis of S-adenosylmethionine (SAM), S-adenosylhomocysteine (SAH), total homocysteine (tHcy), folate, vitamin B12, and MTHFR gene polymorphisms.
  • Statistical comparisons between cases and controls, adjusting for relevant covariates.

Main Results:

  • Children with CHD exhibited significantly higher median concentrations of SAM and folate compared to controls.
  • Complex CHD cases showed elevated SAM, SAH, and serum folate, independent of MTHFR polymorphisms.
  • Children with Down syndrome and CHD displayed higher SAH and a lower SAM:SAH ratio, indicating potential global hypomethylation.

Conclusions:

  • Elevated methylation biomarker concentrations in young children correlate with complex CHD.
  • A global hypomethylation status may be linked to CHD, particularly in Down syndrome, warranting further investigation in specific tissues and DNA methylation levels.
Abstract

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