by Leigh MacMillan

Uterine fibroids — common benign pelvic tumors — can cause pain, heavy menstrual bleeding, infertility and pregnancy complications. The causes of uterine fibroids remain elusive. 

Using data from previous genome-wide association studies that identified genomic regions associated with increased risk for uterine fibroids, Digna Velez Edwards, PhD, and colleagues have constructed a uterine fibroid polygenic risk score (PRS). They developed the PRS with data from the eMERGE Network, optimized it in a separate clinical population from BioVU, and validated it with two different methods in another subset of individuals from eMERGE. 

The researchers report in Human Genetics that the uterine fibroid PRS has predictive ability: higher PRS values are associated with increased risk for uterine fibroids. A phenome-wide association study identified clinical phenotypes including ‘benign neoplasm of uterus’ (as expected) and other electronic health record codes for pregnancy complication and menstrual phenotypes. 

The PRS will be useful for exploring the genetic architecture of uterine fibroids and could identify novel drug targets and therapies.

Other Vanderbilt authors of the study included Jacqueline Piekos, Jacklyn Hellwege, PhD, Eric Torstenson, Dan Roden, MD, and Todd Edwards, PhD. The research was supported by grants from the National Institutes of Health (HD074711, HD078567, HD093671, GM080178, HG006378, HD004348) and by additional NIH grants supporting the eMERGE Network.