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Epigenetic state and expression of imprinted genes in umbilical cord correlates with growth parameters in human pregnancy
  1. Ai Lin Lim1,
  2. Shilen Ng1,
  3. Suet Ching Pamela Leow1,
  4. Robin Choo1,
  5. Mitsuteru Ito2,
  6. Yiong Huak Chan3,
  7. Siew Kheng Goh1,
  8. Emilia Tng1,
  9. Kenneth Kwek4,
  10. Yap Seng Chong5,
  11. Peter D Gluckman1,6,
  12. Anne C Ferguson-Smith1,2
  1. 1Department of Growth Development and Metabolism, Singapore Institute for Clinical Sciences, Agency for Science Technology and Research (A-STAR), Singapore, Singapore
  2. 2Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge, UK
  3. 3Department of Obstetrics and Gynaecology, Yong Loo Lin School of Medicine, Biostatistics Unit, National University of Singapore, Singapore, Singapore
  4. 4Department of Maternal Fetal Medicine, KKH Women's and Children's Hospital, Singapore, Singapore
  5. 5Yong Loo Lin School of Medicine, Department of Obstetrics and Gynaecology, National University of Singapore, Singapore, Singapore
  6. 6Liggins Institute, University of Auckland, Auckland, New Zealand
  1. Correspondence to Professor Anne C Ferguson-Smith, Department of Physiology, Development and Neuroscience, University of Cambridge, Downing Street, Cambridge CB2 3EG, UK; afsmith{at}


Background Genomic imprinting is a process causing genes to be expressed according to parental origin. Imprinting acts to coordinate fetal and prenatal growth, as well as control postnatal adaptations. Studies on human imprinting are confounded by tissue availability, sampling variability and limitations posed by tissue-specific expression and cellular heterogeneity within tissues. The human umbilical cord is an easily available, embryonic-derived fetal tissue with the potential to overcome many of these limitations.

Methods In a sensitive, gene-specific quantitative expression analysis, we show for the first time robust imprinted gene expression combined with methylation analysis in cords isolated from Asian Chinese full-term births.

Results Linear regression analyses revealed an inverse correlation between expression of pleckstrin homology-like domain, family A, member 2 (PHLDA2) with birth weight (BW). Furthermore, we observed significant down-regulation of the paternally expressed gene 10 (PEG10) in low BW babies compared to optimum BW babies. This change in PEG10 gene expression was accompanied by concomitant methylation alterations at the PEG10 promoter.

Conclusions These data are the first to demonstrate relative expression of an imprinted gene associated with epigenetic changes in non-syndromic fetal growth restriction in babies. They show that perturbed expression in compromised fetal growth may be associated with in utero modulation of the epigenetic state at the imprinting control regions and implicate specific imprinted genes as new biomarkers of fetal growth.

  • Epigenetics
  • Genetics
  • Imprinting
  • Obstetrics and Gynaecology
  • Reproductive medicine
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