A systems-based approach to uterine fibroids identifies differential splicing associated with abnormal uterine bleeding.

ABSTRACT:

Background

Uterine fibroids (UFs), benign tumours prevalent in up to 80% of women of reproductive age, are associated with significant morbidity, including abnormal uterine bleeding, pain and infertility. Despite identification of key genomic alterations in MED12 and HMGA2, the pathogenic mechanisms underlying UFs and heavy menstrual bleeding (HMB) remain poorly understood.

Methods

To correlate systematically genetic, transcriptional and proteomic phenotypes, we conducted an integrative multi-omic approach utilising targeted DNA sequencing, RNA sequencing and proteomic methodologies, encompassing fibroid, myometrium, and endometrium tissues from 91 patients.

Results

In addition to confirming the presence of MED12 mutations, we identify variants in AHR and COL4A6. Mult

SUBMITTER: Wang CY 

PROVIDER: S-EPMC12311048 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature