Advancing Women’s Health: BelSU Researchers Develop Genetic Tools for Fibroid Risk Prediction

Uterine fibroids, the most common type of benign tumour, affect 30-35% of women of reproductive age. The risk of developing fibroids significantly increases with age, with diagnoses occurring in up to 60% of women aged 45 to 47. For many women, this condition can severely impact quality of life, leading to issues such as abnormal bleeding, anaemia, pain, infertility, miscarriage, and dysfunction of surrounding organs. Approximately half of all cases require surgical intervention to remove the tumours. In Russia, uterine fibroids are implicated in 50-70% of hysterectomies or uterus amputations, highlighting the urgent need for improved methods of early risk prediction.

Under the guidance of Professor Mikhail Churnosov, scientists at BelSU conducted extensive molecular genetic studies to identify significant genetic factors associated with uterine fibroids in women with both normal and excess weight.

Over five years, more than 1,500 unrelated women from the Central Black Earth Region of Russia participated in these comprehensive studies. From the analysis of 1,542 participants, the researchers identified specific "hazardous" gene combinations that indicate a high risk of developing uterine fibroids in clinically healthy women.

For those with normal weight, a particular combination of genotypes (rs440837-AG from the ZBTB10 gene, rs3779195-TA from the BAIAP2L1 gene, rs780093-CT from the GCKR gene, and rs17496332-AA from the PRMT6 gene) signals an elevated risk. In contrast, a different set of genotypes (rs8023580-TC from the NR2F2 gene, rs7910927-GT from the JMJD1C gene, and rs3779195-TA from the BAIAP2L1 gene) indicates a high risk for those who are overweight or obese. According to the study authors, this research marks the first time in Russia that the role of these specific polymorphic markers has been linked to the development of uterine fibroids in both overweight and normal-weight women.

Professor Churnosov explained that these genes serve as genetic determinants for sex hormone globulin transport levels, thus influencing the hormonal profile (including testosterone and oestrogens) critical for fibroid development.

“The forecasting methods we propose will enable us to identify at-risk groups among women long before any symptoms appear. This will allow for preventive measures aimed at reducing fibroid development and will also be valuable when planning pregnancies or treating other health conditions,” said Professor Churnosov.