Exploration of sex differences in the genetic susceptibility of glioma
Using real-world data, the group have established a framework to quantify the population health economic impact of new cancer treatments for colorectal cancer, non-small cell lung cancer and melanoma.
ASSOCIATE PROFESSOR ENES MAKALIC
Senior Research Fellow
Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health
KAREN ALPEN
PhD Student
Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health
Prior genome-wide association studies (GWAS) have identified 34 susceptibility genomic loci for glioma, a rare and fatal brain cancer. These regions account for around a third of the familial risk of glioma, leaving a large proportion of familial risk of glioma undiscovered. Males have a higher incidence of glioma and this trend persists across all ages and ethnicities and even across species into canines. The brain is one of the most sexually dimorphic organs in the body, displaying sex differences in both structure and function. Is a portion of glioma's missing heritability hidden in sex-specific genomic risk regions?
We performed a sex-stratified GWAS using a machine learning algorithm that we have developed and identified novel sex-specific genomic risk regions that may have been missed by conventional GWAS analyses. A better understanding of the reasons for sex differences could provide biological insight into the cause of glioma with implications for prevention, risk prediction and potentially treatment.
Enes Makalic is the Head of the High Dimensional Analytics Unit at the Centre for Epidemiology & Biostatistics, Melbourne School of Population and Global Health. He completed a PhD in data science from Monash University in 2007 and has been at the University of Melbourne in both research and teaching capacity since 2009. His research interests include statistical genomics, information theory and application of Bayesian statistics to public health.
Karen Alpen is a third year PhD student with the Centre of Epidemiology & Biostatistics, Melbourne School of Population and Global Health. She completed a Bachelor of Medical Science from Charles Sturt University with Honours in 2014 and a Master of Epidemiology from University of Melbourne in 2019. Her research project investigates genetic susceptibility of glioma with a particular interest in sex differences.