A phenome-wide association study of uterine fibroids reveals a marked burden of comorbidities
Year: 2025
Type: article
Study design: Observational Study
Abstract: BACKGROUND: The burden of comorbidities in those with uterine fibroids compared to those without fibroids is understudied. We performed a phenome-wide association study to systematically assess the association between fibroids and other conditions. METHODS: Vanderbilt University Medical Center's Synthetic Derivative and Geisinger Health System Database, two electronic health record databases, were used for discovery and validation. Non-Hispanic Black and White females were included. Fibroid cases were identified through a previously validated algorithm. Race-stratified and multi-population phenome-wide association analyses, adjusting for age and body mass index, were performed before statistically significant, validated results were meta-analyzed. RESULTS: There were 52,295 and 26,918 (9022 and 10,232 fibroid cases) females included in discovery and validation analyses. In multi-population meta-analysis, 389 conditions were associated with fibroid risk, with evidence of enrichment of circulatory, dermatologic, genitourinary, musculoskeletal, and sense organ conditions. The strongest associations within and across racial groups included conditions previously associated with fibroids. Numerous novel diagnoses, including cancers in female genital organs, were tied to fibroid status. CONCLUSIONS: Overall, individuals with fibroids have a marked increase in comorbidities compared to those without fibroids. This approach to evaluate the health context of fibroids highlights the potential to understand fibroid etiology through studying the common biology of comorbid diagnoses and through disease networks.
Source: Communications Medicine
Language: English
Subfield: Obstetrics and Gynecology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,690
Funders: U.S. Department of Health and Human Services, Vanderbilt University, Vanderbilt Institute for Clinical and Translational Research, National Institutes of Health, National Cancer Institute, National Center for Research Resources, National Center for Advancing Translational Sciences, Eunice Kennedy Shriver National Institute of Child Health and Human Development
Awards: G10823147, G1753371864, Understanding the genetic risk underlying racial disparities in uterine fibroids, G2335737663, G3053989509, G3509423882, G3792309522, Using the Exome to Discover Genetic Determinants of Fibroids in African Americans, G5412787015, The Vanderbilt Institute for Clinical and Translational Research (VICTR) KL2, Building Interdisciplinary Research Careers in Women's Health, G7017580557, Large-scale studies in eMERGE to discover the genetic determinants of uterine fibroids, Evaluating the impact of altered gene expression on uterine fibroid risk in African ancestry populations, Vanderbilt Training Program in Molecular and Genetic Epidemiology of Cancer
OpenAlex ID: W4410383115
