Genetics SIG

SIG name

Genetics

SIG leaders

List of local Investigators (name and affiliation)

  • A/Prof. Rae-Chi Huang , Telethon Kids Institute, UWA
  • Trevor Mori, UWA
  • Lawrie Beilin, UWA
  • Robert Eikelboom, Telethon Kids Institute, UWA
  • Chris Brennan-Jones, Telethon Kids Institute
  • David Mackey, Lion’s Eye Institute, UWA
  • Vijay Panicker, Sir Charles Gardiner Hospital
  • Kimberley Wang, Telethon Kids Institute
  • Seyhan Yazar, UWA
  • Melanie White, UWA
  • Carol Wang, UWA

Overview of the current data resources available in the SIG area

Resources available in the Genetics SIG include genome-wide association microarray genotype data (Illumina 6660W Quad Beadchip and Human ExomeCore beadchip) for the 17 year visit. The 17 year old visit genotype data has been imputed to both HapMap and 1000 genomes. In addition, genome-wide microarray dated (Illumina Human ExomeCore beadchip) will be available for the Raine Parents by the end of 2017.  Epigenome-wide DNA Methylation microarray (Illumina Human Methylation 450K BeadChip) is available for 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 the Pregnancy and Childhood Epigenetic (PACE), and Genetics of DNA Methylation for epigenetic data. The genetic data of the Raine Study has been used in numerous high impact consortia papers (see below for a select view) including EGG (Early Growth Genetics), EAGLE (Early Genetics Lifecourse Epidemiology), ReproGen, CORNET, Twins Eye Study, International Eye Genetics Consortium, PREBIC, CHARGE and the Australian Asthma Genetics Consortium. Participation in these international consortia raises international awareness of the high quality of longitudinal genetic research conducted in Australia.
  • Other researchers in this SIG are involved in the identification of novel genetic variants for cardiometabolic and vascular disease, development of methods for conducting Mendelian Randomization to investigate the potential causal relationship between birth weight and cardiometabolic diseases and correlated traits, investigating the maternal and offspring genetic determinants of birth weight, and using genetics to investigate biological intermediates mediating the relationship between birth weight and cardiometabolic traits and diseases.

Outline of SIG plans for next 5 years

  • Continue to work with International Consortia to understand the genetic and epigenetic underpinnings of complex phenotypes.
  • Integrate the Parent (Generation 1) and offspring (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.

List of National/International Collaborating Investigators (name and affiliation)

  • Alex Hewitt – Menzies Research Institute Tasmania, University of Tasmania, University of Melbourne
  • Nicole Warrington – University of Queensland
  • Stuart MacGregor – QIMER Berghofer Medical Research Institute

Top 5-10 key findings (with reference)

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

List of indicative recent publications

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

List of current/recent grants

  • NHMRC
  1. Genetic and Early Life Predictors of Ectopic Fat and their Association with Cardiometabolic Health and Disease (TA Mori, LJ Beilin, E Moses, G Watts, L Adams). APP1102106
  2. Developmental Origins of Adult Cardiovascular Disease Vascular Health in the Raine Cohort (D Green, L Beilin, L Straker, P Eastwood, T Mori, P Ainslie) APP1126494
  3. Prevalence, phenotype and genotype of common sleep disorders (P. Eastwood, D. Hillman, E. Moses, N. McArdle, P. Melton) APP1084947
  4. Breaking the intergenerational cycle of obesity: a multigeneration population study of obesity (RC Huang, K Lilycrop, G Burdge, J. Craig, L Beilin, T. Mori, W Oddy, K Godfrey, J Holbrook) APP1059711
  • EU
  1. LIFECYCLE: Early-life stressors and LifeCycle health (RC Huang)
  • Telethon
  1. Bedside to bench and back to paediatric obesity clinic: Enabling a powerful West Australian epigenetic resource (RC Huang, E Davis, L Beilin, C Pennell)

Examples of recent media

Pending