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Maternal homocysteine in pregnancy and offspring birthweight: epidemiological associations and Mendelian

Chittaranjan S Yajnik1, Giriraj R Chandak2, Charudatta Joglekar3

  • 1Diabetes Unit, King Edward Memorial Hospital and Research Centre, Pune, India, CSIR-Centre for Cellular and Molecular Biology (CSIR-CCMB), Hyderabad, India, Adjunct Group Leader, Adjunct Group, Genome Institute of Singapore, Singapore, Persistent Systems Ltd, Pune, India, Department of Nutrition, University of Oslo, Oslo, Norway, Department of Pharmacology, University of Oxford, Oxford, UK, Epidemiology Research Unit, CSI Holdsworth Memorial Hospital, Mysore, India and MRC Lifecourse Epidemiology Unit, University of Southampton, Southampton, UK diabetes@kemdiabetes.org chandakgrc@ccmb.res.in.

International Journal of Epidemiology
|July 24, 2014
PubMed

Insights

High maternal homocysteine, linked to one-carbon metabolism, causally impacts fetal growth. Lowering maternal homocysteine levels may enhance fetal development and birthweight.

Area of Science:

  • Nutritional biochemistry
  • Maternal-fetal medicine
  • Genetics

Background:

  • Maternal one-carbon (1-C) metabolism disturbances are linked to poor fetal growth.
  • The causal relationship between maternal 1-C metabolism and fetal growth remains unestablished.

Purpose of the Study:

  • To investigate the association between maternal total homocysteine and offspring birthweight.
  • To test for causality using a Mendelian randomization framework.

Main Methods:

  • Studied maternal total homocysteine and offspring birthweight in Indian cohorts (Pune Maternal Nutrition Study and Parthenon Cohort Study).
  • Employed Mendelian randomization with the methylenetetrahydrofolatereductase (MTHFR) gene variant rs1801133 (677C→T).
  • Utilized instrumental variable and triangulation analysis, including meta-analysis.

Main Results:

  • Inverse relationship observed between maternal homocysteine and offspring birthweight (meta-analysis: -40 g/SD).
  • Maternal MTHFR risk genotype (rs1801133) predicted higher homocysteine and lower birthweight (meta-analysis: -61 g).
  • Instrumental variable and triangulation analyses supported a causal link.

Conclusions:

  • Findings suggest a causal role for maternal homocysteine in fetal growth.
  • Interventions to reduce maternal homocysteine concentrations may improve fetal development.
Abstract

Keywords:
MTHFR variantMaternal homocysteineMendelian randomization analysiscausalityfolateoffspring birthweightvitamin B12

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