Genetics

Our Genetics Special Interest is able to investigate areas of human genetic and epigenetics. The group has a range of measures on our participants genetic makeup, that is,  their DNA, as well as epigenetics, which relates to  how experiences and external factors in life impact which parts of your DNA code are turned on and off at different time points. This information is available across different ages and generations within the Raine Study.

SIG Leaders:

Dr Phillip Melton, The University of Western Australia

Prof Craig Pennell, The University of Newcastle

Key findings over the last 30 years have included:

Using information collected from the Raine Study participants, researchers found that childhood intelligence is determined by many genes. The Raine Study data contributed to larger studies that discovered new genes related to human height, reading and language abilities, middle ear infection and others. Researchers also found a new gene related to the onset of puberty in boys, and that the age of puberty in girls is influenced by which parent their genes come from. Additionally, researcher 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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