Genetic Research


The Genetics Special Interest Group investigates areas of human genetic and epigenetic information. The group has a range of measures on for each Raine Study participant, with detailed information on the genetic sequence (code) as well as how the genetic information is packaged (epigenetics). Epigenetic information relates to how experiences and external factors in life impact which parts of the DNA code may be turned on and off at different time points or in different cells in the body.

A person’s genetic profile is constant throughout life, while the epigenetic profile is subjected to changes as a result of the environment and what they are exposed to throughout their life. Genetic data is available across different generations within the Raine Study; epigenetic data is only available for the Raine Study Gen2 at age 17.

The Genetics Special Interest Group has been highly productive with more than 100 publications and participation in multiple global consortiums designed to uncover the role of genetics and epigenetics in health and disease.

SIG Leaders:

Dr Phillip Melton, Menzies Institute for Medical Research, University of Tasmania, University of Western Australia

Prof Craig Pennell, The University of Newcastle, John Hunter Hospital

Key findings over the last 30 years have included:

Using information collected from the Raine Study participants, researchers found that genetics and epigenetics play a crucial role in determining various characteristics and abilities including birth weight, childhood and adulthood height and weight, the risk of obesity and its related disease in adulthood, childhood intelligence, reading and language abilities, the timing of onset of puberty in boys and girls, middle ear infection and others. Potential has also been discovered to identify a subset of the population at risk for developing disease (based on genetics), allowing clinicians to provide targeted treatment for the best possible treatment outcome. Additionally, researchers found that DNA methylation (a mechanism that can change the activity of a DNA segment without changing its sequence) has long-term effects on body size and the distribution of fat, muscle and bone in the body.

  • Childhood intelligence is determined by many genes. Benyamin B, Pourcain Bst, Davis OS, Davies G, Hansell NK, Brion M-JA, Kirkpatrick RM, et al. Childhood Intelligence Is Heritable, Highly Polygenic and Associated with FNBP1L. Molecular Psychiatry. 2014;19(2): 253-8.
  • The identification of a new gene involved in the onset of puberty in boys.  Cousminer DL, Stergiakouli E, Berry DJ, Ang W, Groen-Blokhuis MM, Körner A, Widén E. Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty. Human Molecular Genetics. 2014;23(16):4452-64.
  • The age of puberty in girls is influenced by which parent their genes come from. Perry JR, Day F, Elks CE, Sulem P, Thompson DJ, Ferreira T, et al. Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. Nature. 2014;514(7520):92-7.
  • The shared genetic basis for blood pressure and depression in adolescent boys. Louise S, Briollais L, Mori TA, Mattes E, McCaskie PA, Pennell CE, et al. Monoamine oxidase a gene polymorphisms common to blood pressure and depression scores in Caucasian children. Journal of Genetics Study. 2014;2(2).
  • DNA methylation (a mechanism that can change the activity of a DNA segment without changing its sequence) has long-term effects on body size and the distribution of fat, muscle and bone in the body. Huang R, Galati JC, Burrows S, Beilin LJ, Li X, Pennell CE, van Eekelen JA, Mori TA, Adams LA, and Craig JM. DNA Methylation of the IGF2/H19 Imprinting Control Region and Adiposity Distribution in Young Adults. Clinical Epigenetics. 2012;4(1): 21.
  • DNA methylation in an area relevant to gene function may be a robust marker of later body fat. Lillycrop K, Murray R, Cheong C, Teh AL, Clarke-Harris R, Barton S, et al.  ANRIL Promoter DNA Methylation: A Perinatal Marker for Later Adiposity. EBioMedicine. 2017;19:60-72.
  • The discovery of new genes for human height. Marouli E, Graff M, Medina-Gomez C.Lo KS, Wood AR, Kjaer TR, et al. Rare and low-frequency coding variants alter human adult height. Nature. 2017;542:186-190.
  • The discovery of new genes for reading and language abilities. Gialluisi A, Newbury DF, Wilcutt EG, Olson RK, DeFries JC, Brandler WM, et al. Genome-wide screening for DNA variants associated with reading and language traits. Genes, Brain and Behavior. 2014;13(7):686-701.
  • Discovery of a new gene for otitis media (middle ear infection). Rye MS, Warrington NM, Scaman ESH, Vijayasekaran S, Coates HL, Anderson D, Pennell CE, Blackwell JM and Jamieson SE. Genome-Wide Association Study to Identify the Genetic Determinants of Otitis Media Susceptibility in Childhood. PLoS ONE. 2012;7(10).

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