Jasper Elizabeth A, Mautz Brian S, Hellwege Jacklyn N, Piekos Jacqueline A, Jones Sarah H, Zhang Yanfei, Torstenson Eric S, Pendergrass Sarah A, Lee Ming Ta Michael, Edwards Todd L, Velez Edwards Digna R
Division of Quantitative and Clinical Sciences, Department of Obstetrics and Gynecology, Vanderbilt University Medical Center, Nashville, TN, USA.
Center for Precision Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Commun Med (Lond). 2025 May 15;5(1):174. doi: 10.1038/s43856-025-00884-w.
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.
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.
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.
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.
与无子宫肌瘤者相比，子宫肌瘤患者的合并症负担研究不足。我们进行了一项全表型关联研究，以系统评估子宫肌瘤与其他疾病之间的关联。
利用范德比尔特大学医学中心的综合衍生数据库和盖辛格健康系统数据库这两个电子健康记录数据库进行发现和验证。纳入非西班牙裔黑人和白人女性。通过先前验证的算法识别子宫肌瘤病例。在进行种族分层和多人群全表型关联分析时，对年龄和体重指数进行了调整，在具有统计学意义的验证结果进行荟萃分析之前进行了这些分析。
发现分析和验证分析分别纳入了52295名和26918名女性（子宫肌瘤病例分别为9022例和10232例）。在多人群荟萃分析中，389种疾病与子宫肌瘤风险相关，有证据表明循环系统、皮肤、泌尿生殖系统、肌肉骨骼系统和感觉器官疾病有所富集。种族组内和种族组间最强的关联包括先前与子宫肌瘤相关的疾病。许多新的诊断，包括女性生殖器官癌症，都与子宫肌瘤状态有关。
总体而言，与无子宫肌瘤者相比，子宫肌瘤患者的合并症显著增加。这种评估子宫肌瘤健康背景的方法凸显了通过研究合并诊断的共同生物学特性以及通过疾病网络来理解子宫肌瘤病因的潜力。
