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The Peri/Postnatal Epigenetic Twins Study (PETS)

  • Yuk Jing Loke (a1), Boris Novakovic (a2) (a3), Miina Ollikainen (a4), Euan M. Wallace (a5), Mark P. Umstad (a6), Michael Permezel (a7), Ruth Morley (a1), Anne-Louise Ponsonby (a8), Lavinia Gordon (a9), John C. Galati (a10), Richard Saffery (a2) (a3) and Jeffrey M. Craig (a1)
  • DOI:
  • Published online: 22 November 2012

The Peri/postnatal Epigenetic Twins Study (PETS) is a longitudinal cohort of 250 pairs of Australian twins and their mothers, who were recruited mid-way through pregnancy from January 2007 to September 2009. The study is centered on the developmental origins of health and disease paradigm (DOHaD) in which an adverse intrauterine environment predisposes the individual to complex disease in later life by reducing growth in utero and adversely altering developmental plasticity. Data concerning diet and lifestyle were collected from mothers during pregnancy, and samples of plasma and serum taken at 28 weeks’ gestation. We attended 75% of all births, at which time we collected multiple biological samples including placenta, cord blood, and neonatal cheek cells, the latter from 91% of pairs. Chorionicity was recorded and zygosity was determined by DNA testing where necessary. Approximately 40% of the twins are monozygotic, two-thirds of which are dichorionic. Twins were seen again at 18 months of age and repeat blood and cheek swabs taken where possible. Studies of gene expression and the epigenetic marks of DNA methylation have so far revealed that twins exhibit a wide range of epigenetic discordance at birth, that one-third of the epigenome changes significantly between birth and 18 months; shared (maternal) environment, genetic factors, and non-shared intrauterine environment contribute to an increasing proportion of epigenetic variation at birth, respectively, and affect tissues differently, and that within-pair birth weight discordance correlates with epigenetic discordance in genes associated with lipid metabolism, supporting an epigenetic mechanism for DOHaD.

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Corresponding author
address for correspondence: Dr. Jeffrey M. Craig, Early Life Epigenetics Group, Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia. E-mail
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Twin Research and Human Genetics
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