Genetics SIG

SIG leaders

List of Investigators


  • Dr Chris Brennan-Jones, Telethon Kids Institute
  • Professor David Mackey, University of Western Australia
  • Dr Kimberley Wang, Telethon Kids Institute
  • Emeritus Prof Lawrie Beilin, University of Western Australia
  • Ms Melanie White, University of Western Australia
  • A/Professor Rae-Chi Huang , Telethon Kids Institute & University of Western Australia
  • Adj.Professor Robert Eikelboom, Telethon Kids Institute & University of Western Australia
  • Dr Seyhan Yazar, University of Western Australia
  • Professor Trevor Mori, University of Western Australia
  • Dr Vijay Panicker, Sir Charles Gardiner Hospital


  • Dr Alex Hewitt, University of Tasmania & University of Melbourne
  • Dr Nicole Warrington, University of Queensland
  • A/Professor Stuart MacGregor – QIMER Berghofer Medical Research Institute


  • Professor Keith Godfrey, University of Southampton, United Kingdom
  • Professor Karen Lilycrop, University of Southampton, United Kingdom
  • Dr Anne Justice Geisinger Institute, Danville PA, United States
  • Dr Janine Felix, Erasmus Medical Centre, Rotterdam, Netherlands
  • Dr Sylvain Sebert, The University of Oulu, Oulu Finland

Overview of the current data resources available in the SIG area

The genetics SIG has access to unique resources to address the association of genetic and epi-genetic variation throughout the life-course including:

Generation 1

  • Genome-wide microarray data (Illumina Human ExomeCore beadchip) the Raine Parents.

Generation 2

  • Genome-wide association micro-array genotype data (Illumina 6660W Quad BeadChip and Human ExomeCore beadchip) for the 17 year visit.
  • Epigenome-wide DNA Mehylation microarray (Illumina Human Methylation 450K BeadChip) is available for the 17 year old visit
  • Telomere length from the 17 year old visit

Overview of current/recent SIG activity

The Genetics SIG of the Raine Study is involved in several international consortia investigating both genetic and epigenetic data. These include:

  • Pregnancy and Childhood Epigenetic (PACE)
  • Genetics of DNA Methylation
  • EGG (Early Growth Genetics)
  • EAGLE (Early Genetics Lifecourse Epidemiology)
  • ReproGen
  • Twins Eye Study
  • International Eye Genetics Consortium
  • Australian Asthma Genetics Consortium

Current/recent activity includes:

  • Identification of novel genetic and epigenetic variants
  • Cardio-metabolic and vascular disease
  • Development of methods for conducting Mendelian Randomization to investigate the potential causal relationship between birth weight and cardio-metabolic diseases and correlated traits
  • Investigating the maternal and offspring genetic determinants of birth weight
  • Using genetics to investigate biological intermediates mediating the relationship between birth weight and cardio-metabolic traits and diseases
  • Environmental impacts of early-life exposures including maternal smoking, maternal BMI
  • Epigenetic age acceleration

Outline of SIG plans for next 5 years

  • Continue to work with International Consortia to understand the genetic and epigenetic underpinnings of complex phenotypes.

– Through the PACE consortium we are currently investigating the association of early life exposures from birth through adolescence through the examination of maternal factors including smoking and BMI, early life exposures and risk factors for later-life complex disease including blood pressure, childhood BMI, etc

– In several genetic consortium we are investigating the genetic association of individual variants with a number of complex traits that may provide greater understanding of the development of later life complex diseases as well as the underlying genes influencing growth and development.

  • Integrate the Generation 1 and Generation 2 genotype data.

Brief list of potential student/early career researcher projects

Please contact the Genetics SIG Leaders if you are interested in a research project incorporating genetic or epigenetic data and they will coordinate whom to contact within the group.

Top 5-10 key findings (with reference)

  • Genomic architecture of human height involves several genes and both common and rare variation.  Marouli et al. Rare and low-frequency coding variants alter human adult height. Nature, 2017;542:186-190.
  • Risk of obesity influenced by epigenetic changes in our genes.  Lilycrop et al.  ANRIL Promoter DNA Methylation: A Perinatal Marker for Later Adiposity. EBioMedicine, 2017; 19:60-72.
  • Discovery of two new gene variants associated with reading and language abilities.  Gialluisi, A., et al. “Genome-wide screening for DNA variants associated with reading and language traits.” Genes, Brain and Behavior, 2014 13(7): 686-701.
  • Shared genetic basis for blood pressure and depression in adolescent boys.  Louise, S., et al. “Monoamine oxidase a gene polymorphisms common to blood pressure and depression scores in Caucasian children.” Journal of Genetics Study, 2014; 2(2).
  • Identification of genes contributing to the control of blood cortisol levels.  Bolton, J. L., et al.  “Genome wide association identifies common variants at the SERPINA6/SERPINA1 locus influencing plasma cortisol and corticosteroid binding globulin.” PLoS Genetics, 2014;10(7): e1004474.
  • Childhood intelligence is determined by many genes.   Benyamin, B, Bst Pourcain, O S Davis, G Davies, N K Hansell, M-J a Brion, R M Kirkpatrick, et al.  “Childhood Intelligence Is Heritable, Highly Polygenic and Associated with FNBP1L.” Molecular Psychiatry, 2014;19:  253-8.

List of indicative recent publications

  • Horikoshi et al. Genome-wide associations for birth weight and correlations with adult disease. Nature. 2017;538:248.252.
  • Lilycrop et al. ANRIL Promoter DNA Methylation: A Perinatal Marker for Later Adiposity. EBioMedicine.  2017;19:60-72.
  • Marouli et al. Rare and low-frequency coding variants alter human adult height. Nature.  2017;542:186-190.
  • Wain et al. Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets. Nature Genetics 2017;49: 416-42.
  • Felix et al. Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index. Human Molecular Genetics 2016;25:389-403.
  • Parmar et al. International Genome-Wide Association Study Consortium Identifies Novel Loci Associated With Blood Pressure in Children and Adolescents. Circulation: Cardiovascular Genetics 2016; 9:266-278.
  • Anderson et al. Genome-wide association study of IgG1 responses to the choline-binding protein PspC of Streptococcus pneumoniae. Genes Immun.  2015;16:289-296.
  • Huang et al. Genome-wide methylation analysis identifies differentially methylated CpG loci associated with severe obesity in childhood. Epigenetics  2015;10:995-1005.
  • Warrington et al. A genome-wide association study of body mass index across early life and childhood. International Journal of Epidemiology 2015;44:700-712.
  • Yazar et al. Genetic and environmental factors in conjunctival UV autofluorescence. JAMA Ophthalmol. 2015;133:406-412.

List of current/recent grants

  • 2016-2020 TA Mori, LJ Beilin, E Moses, G Watts, L Adams; Genetic and Early Life Predictors of Ectopic Fat and their Association with Cardiometabolic Health and Disease; NHMRC; APP1102106 $1,760,732
  • 2015-2017  P. Eastwood, D. Hillman, E. Moses, N. McArdle, P. Melton; Prevalence, phenotype and genotype of common sleep disorders; NHMRC; APP1084947, $1,465,164.65
  • 2013-2016  RC Huang, K Lilycrop, G Burdge, J. Craig, L Beilin, T. Mori, W Oddy, K Godfrey, J Holbrook; Breaking the intergenerational cycle of obesity: a multigeneration population study of obesity; NHMRC; APP1059711 $1,086,102.00
  • 2017-2021  RC Huang; LIFECYCLE: Early-life stressors and LifeCycle health; EU $459,714.54
  • 2014-2016  RC Huang, E Davis, L Beilin, C Pennell; Bedside to bench and back to paediatric obesity clinic: Enabling a powerful West Australian epigenetic resource; Telethon $469,540.00

Other data

The Raine Study has extensive data on cardio-metabolic, phenotypes, biological and senses outcomes that can be linked with Genetic data.  For example, there is data on birth weight, BMI and lung function.