Twin and Family Studies of Epigenetics

Dr Shuai Li has long-term experience in analyzing data from twin and family studies, including the novel epigenomic data. His PhD uses twin and family studies to research DNA methylation. He has published more than 10 papers on epigenetic epidemiological studies, specializing in twin and family designs. Professor John Hopper, AM, was one of the nine inaugural Australia Fellows awarded by NHMRC in 2007 and is currently a NHMRC Senior Principal Research Fellow. He is a Professorial Fellow with a PhD in Mathematical Statistics, and is currently Director (Research) of the Centre for Epidemiology and Biostatistics in the School of Population Global Health at The University of Melbourne. He has published more than 700 papers, specializing in the statistical methodology and its application for analyzing twin and family data, and addressing the genetic and environmental aetiology of diseases and health. He is principal or co-investigator on a number of case-control-family studies across a range of diseases and conditions, particularly breast cancer and colorectal cancer (both funded by the National Institutes of Health (USA)), prostate cancer, melanoma, childhood cancer and asthma. He is a co-investigator on several cohort studies, including Health 2020 and long term follow-up of the 1968 Tasmanian Asthma Study. Professor Hopper has been Director of the Australian Twin Registry (Now is Twins Research Australia) since 1990 and has been awarded a NHMRC CRE grant in Twin Research in 2014. Dr. Tollefsbol is a Distinguished Professor of Biology and a Senior Scientist in the O’Neal Comprehensive Cancer Center, Integrative Center for Aging Research, Nutrition Obesity Research Center, University Wide Microbiome Center, and the Comprehensive Diabetes Center at the University of Alabama at Birmingham (UAB). He is Director of the UAB Cell Senescence Culture Facility which he established in 1999. Dr. Tollefsbol trained as a Postdoctoral Fellow and Assistant Research Professor with members of the National Academy of Science at Duke University and the University of North Carolina. He earned doctorates in molecular biology and osteopathic medicine from the University of North Texas Health Sciences Center and his bachelor’s degree in Biology from the University of Houston. He has received prior funding from the NCI, NHLBI, NIMH and other federal institutes as well as the Glenn Foundation for Medical Research, Susan G. Komen for the Cure, the American Federation for Aging Research (AFAR), and the American Institute for Cancer Research (AICR) among many other sources.

ART 1 Introduction 1. Value of twin and family study designs for epigenetic research 2. Evaluation and measurement of epigenetic modifications in population-based studies

PART 2 Human health applications 3. Discordant monozygotic twin studies of epigenetic mechanisms in mental health 4. DNA methylation and breast cancer risk: value of twin and family studies 5. Twin and family studies on epigenetics and oral health 6. Twin and family epigenetic studies of type 2 diabetes 7. Twin and family studies on epigenetics and obesity 8. DNA methylation and blood pressure in Chinese adult twins 9. Twin and family studies on epigenetics of autoimmune diseases 10. Twin studies on the epigenetics of selected neurological disorders and carotid artery disease 11. Disease-discordant twin studies of epigenetics and cancer 12. Sex differences in epigenetic profiles: The value of twin studies

PART 3 Emerging approach 13. Combining twin-family designs with measured genetic variants to study the causes of epigenetic variation 14. Imaging epigenetics and the radiogenomics 15. DNA methylation changes specific to environmental exposures: The strengths of twin studies using cigarette smoking as an example 16. Time trends in epigenetic signatures and population health risks 17. Ambient air pollution and human epigenetic modifications