Fibroids affect 77% of women by onset of menopause in the U.S. and account for $2.1 billion in healthcare costs each year. Fibroids negatively impact reproductive health causing heavy and painful menses, pelvic pain and pressure, pregnancy complications, and interventions including myomectomy and hysterectomy. Until recently, tumor tissue and cell culture studies investigating fibroid growth have been the primary sources for understanding fibroid pathophysiology. Genetic analysis can provide a powerful and cost effective tool to identify etiological and causal factors, especially since a genetic predisposition to fibroids has already been documented from twin studies. As much as 69% of risk is explained by genetic factors. Racial disparities also support a role for genetics with fibroid risk. African American women have earlier age of onset, more numerous and larger fibroids with a greater lifetime incidence compared to European Americans. We have a funded projects to conduct large-scale genetic studies of fibroids that include GWAS and a large-scale sequencing (whole and exome sequencing) experiment in collaboration with Geisinger Health Systems. We have also collaborated with the eMERGE Network, 23andMe, and the UKBiobank to conduct these studies. This studies also include evaluation of genetically predicted gene expression and phenome-wide association analyses.
- Edwards TL, Hartmann KE, Velez Edwards DR. Variants in BET1L and TNRC6B associate with increasing fibroid volume and fibroid type among European Americans. Hum Genet. 2013 Dec;132(12):1361-9. doi: 10.1007/s00439-013-1340-1. Epub 2013 Jul 28. PMID:23892540