Research Projects
Collaborative genetics research on polycystic ovary syndrome

Principal Investigator: Adjunct Associate Professor Scott Wilson

Polycystic ovary syndrome (PCOS) is one of the leading causes of infertility in women and affects 8-12% of reproductive aged women in the general population in Australia. Despite the prevalence of the condition, the physiological basis of the disorder is poorly understood, although a strong genetic component for the disease is well recognised. PCOS causes significant distress to women and accounts for significant healthcare costs; up to $400 million per year in Australia.

Over the past decade our group has performed numerous studies to clarify the causes or contributing factors of the disease, and explore the genetic basis of the disorder, with significant progress being made for these goals. However, across the field of complex disease genetics the single most successful experimental design for finding novel genes, uncovering signal transduction pathways and generating knowledge on aetiology of disease has proven to be the collaborative Genome-Wide Association Study (GWAS) meta-analysis. To date there have been only a small number of PCOS-GWAS published, as individual research groups are generally not able to achieve the required sample sizes for the discovery and replication cohorts that are needed. Recently we saw the formation of the International PCOS consortium, comprising more than fifteen research groups that have merged around an interest for dissecting out the genetics of PCOS; an initiative that we consider has a genuine prospect of achieving significant progress towards understanding this disease.

In this study we aim to recruit 800 individuals from our existing database of well characterised PCOS patients, to complement our current DNA and data collection (n=200 PCOS and 180 controls), and achieve a sample size of 1000 PCOS and 1000 controls, sufficient to participate in this PCOS consortium and thereby facilitate large scale gene discovery and validation.