In the largest genetic study to date on Polycystic ovary syndrome (PCOS), a leading cause of female infertility, an international team of scientists found new genetic associations for the condition and further evidence of its associations with metabolic disorders, menopause and depression.
Published in the journal PLOS Genetic, the study found 14 genetic variants associated with the condition, three of which were identified for the first time.
The Genetics of Polycystic Ovary Syndrome
The study also found correlations between PCOS and obesity, insulin response and coronary artery disease. The researchers also confirmed a causal link with depression, which had only before been hypothesized.
“The links between PCOS and mental health suggest the importance of a holistic approach where the social and psychosocial dimensions of the disease are considered,” said Felix Day, Ph.D., senior research associate in Growth and Development at the Medical Research Council Epidemiology Unit at the University of Cambridge, England and contributing author on the study. “The next steps are to further characterize the causes of this understudied disease that affects many women worldwide.”
The genetic underpinnings of the condition implicate neuroendocrine, metabolic and reproductive pathways, and a follow-up analysis found that the genetic pathways identified in this study also appear to be linked to other conditions including metabolic disorders such as type 2 diabetes, and menopause.
PCOS affects nearly one in ten women of reproductive age. While the condition has been known by the medical community since the 1930s, treatments remain limited. Patients are often misdiagnosed. In fact, less than 50 percent of patients are diagnosed correctly. Many women spend years searching for a definitive answer on what’s causing their symptoms, which can vary widely from patient to patient.
The researchers working on this study, the International PCOS Consortium, explored the genetic basis of for the condition by conducting a whole genome association study. The researchers looked at genetic data from more than 10,000 women with PCOS and other 100,000 women without the condition who were used as controls.
The data came from seven different studies of women in Europe and North American, all with European ancestry who also were clinically verified to have PCOs. The data also included information from 23andMe customers who consented to participate in research. 23andMe previously contributed to a study on PCOS in 2015, and this new research builds on those findings.
“Patients often go from doctor to doctor before they get a diagnosis,”said Corrine K. Welt, a co-author of the paper who works at the Division of Endocrinology, Metabolism and Diabetes, University of Utah, Salt Lake City, Utah. “(This is) because medical professionals may not be familiar with PCOS and providers from dermatology to obstetrics and gynecology to endocrinology may diagnose PCOS differently. As a community, we turned to genetics to understand the initiating cause of this disorder.”