Scientists at BelSU University have made a groundbreaking discovery, identifying a unique combination of genes associated with a significantly increased risk of endometrial hyperplasia, a severe gynecological condition. This finding, the first of its kind globally, offers the potential to predict the disease long before the onset of symptoms, according to the university`s press service.
Endometrial hyperplasia is a common gynecological disorder characterized by excessive thickening of the uterine lining. It can lead to serious, life-threatening complications such as endometrial cancer and severe uterine bleeding.
Specialists at Belgorod State National Research University (BelSU) state that hyperplastic processes account for 10% to 50% of gynecological diseases. The condition`s importance is heightened by the fact that approximately 40% of young patients require surgical intervention, which often results in infertility.
Existing diagnostic methods frequently detect the disease only after significant changes in the endometrium have occurred. Furthermore, conventional treatments, including hormonal therapy or surgery, do not always yield the desired outcomes and can be associated with complications. Therefore, research focused on the early identification of predisposition to endometrial hyperplasia is of considerable importance.
According to BelSU researchers, modern medicine is increasingly utilizing genetics for disease prediction. The university`s specialists conducted a study that revealed that the presence of a specific combination of genetic variants (rs11031002-TT in the FSHB gene, rs112295236-CG in the SLC22A10 gene, rs11031005-TT in the FSHB gene, and rs148982377-TT in the ZNF789 gene) significantly elevates the risk of endometrial hyperplasia.
“These data are unique, obtained for the first time worldwide, and enable predicting the risk of the disease at the genetic level,” commented Mikhail Churnosov, Head of the Department of Biomedical Disciplines at BelSU.
The study involved 1493 women, comprising 520 with endometrial hyperplasia and 973 in a control group. The researchers analyzed the polymorphism of genes involved in regulating sex hormone levels.
Churnosov added, “The results pave the way for personalized risk assessment of endometrial hyperplasia. We can identify risk groups among clinically healthy women and implement preventive measures for them, which will enhance the effectiveness of early diagnosis and prevention.”
The scientists emphasized that implementing these findings in clinical practice will not only help prevent the disease but also reduce the need for surgical interventions.
Rupert Blackwood 
Clement Ashworth