The largest genetic study for PCOS to date of over 200,000 women published in Nature Communications reveals the underlying mechanisms of polycystic ovary syndrome, as well as potential interventions. The study, co-lead by Dr John Perry (MRC-EU), and ten other institutions, including 23andMe, has identified genetic variants and causal links associated with PCOS, some of which might be relevant to informing positive lifestyle and treatment choices for women.

“Our study identified some of the first genetic markers for PCOS in European populations, but more crucially has helped us better understand the underlying biology of the disease in more detail.” said Dr Perry. The study found that the risk of PCOS was increased by genetic variants that are known to act by increasing body mass index (BMI) and insulin resistance. The findings indicate that therapies that counteract these mechanisms could be beneficial in women with PCOS.

In additional to these causal mechanisms, the study also identified new genetic variants that implicate three of the four epidermal growth factor receptors, which are known targets of some modern cancer therapies.