Mar 24, 2022
Uterine fibroids are the most common benign tumors in women but difficult to detect until they trigger painful symptoms. A genetic analysis approach published last month in Human Genetics could enable earlier diagnosis of uterine fibroids.
While many women are asymptomatic, one in three women with uterine fibroids experience symptoms, such as heavy and painful periods, abdominal and lower back pain, increased urination or constipation, pain and discomfort during sex, and in severe cases, infertility or pregnancy complications. These symptoms are what lead to further medical tests resulting in a diagnosis and treatment for uterine fibroids.
Despite their high prevalence and health burden, the cause of fibroid tumors is not well understood, which adds barriers in obtaining diagnosis. While there is no single gene responsible for uterine fibroids, genome-wide association studies have identified a number of genes associated with fibroid presentation. In a recent study funded by the National Institutes of Health (NIH), researchers from Vanderbilt University and their collaborators constructed a polygenic risk score that reflects the weighted sum of the effect of such variants.
The researchers used genome-wide scans and health records from people of non-Hispanic, European ancestry, including 2,651 people with fibroids and 4,306 controls. They cross-validated and performed a phenome-wide association study to validate the polygenic risk score, showing that the score indeed captures underlying genetic risk for uterine fibroids. Identifying the genetic associations of uterine fibroids could inform prevention and future treatment strategies.