A Yale-led study published in JAMA Network Open is the first large-scale analysis to investigate phenotypic and genetic factors contributing to the psychiatric comorbidity of endometriosis, a complex gynecologic disease.
Despite the 10 percent prevalence of endometriosis worldwide, this disease is still underdiagnosed, and only invasive treatment options are available to date.
Endometriosis is strongly associated with increased depression and anxiety symptoms that lead to worse health outcomes, poor prognosis, and lower quality of life.
To investigate shared genetic effects and possible causal relationships between endometriosis and psychiatric comorbidities, the authors used genetic and phenotypic data on approximately 270,000 female participants from the UK Biobank together with genome-wide information generated from the Million Veteran Program and the Psychiatric Genomics Consortium.
The study highlights that depression, anxiety, and eating disorders are strongly associated with endometriosis. Chronic pain plays an important role in explaining these associations, but it is not the only contributing factor. The authors showed that when accounting for chronic pain, these psychiatric comorbidities were still strongly associated with endometriosis.
“Our findings support that endometriosis is a chronic systemic disease with complex links to women’s mental health rather than a classic gynecological disease,” said Dora Koller, PhD, postdoctoral fellow at Yale School of Medicine and first author of the study.
The authors also showed that the psychiatric comorbidities of endometriosis can partly be explained by genetic factors. Indeed, there is high genetic correlation between these traits with also possible causal effects of depression and anxiety on endometriosis.
The study also identified a genetic risk variant that is shared between endometriosis and depression. The variant was mapped to a gene that is highly expressed in several brain regions and female reproductive tissues.
The results support that endometriosis is a medical condition strongly affecting women’s mental and physical health and it may require more integrated care going beyond treating its physical symptoms.
“Although our study provides important insights into the epidemiology and the genetics of the psychiatric comorbidities of endometriosis, the limited availability of large-scale datasets did not permit us to fully explore the impact of endometriosis on women’s health,” said Renato Polimanti, PhD, associate professor of psychiatry and the study’s senior author.