Molecular genetic factors of uterine fibroids formation

Uterine fibroids are benign tumors of the myometrium that affect more than 70% of women worldwide. Due to the high prevalence, the economic costs of the health system and the significant impact on women’s quality of life, uterine fibroids pose a serious problem both for each individual woman with this diagnosis and for the health care system as a whole. Genetic factors play a significant role in the formation of uterine fibroids. The article examines current data on the genetic determinants of uterine fibroids, obtained as a result of the analysis of full-genomic studies (GWAS) and subsequent replicative studies. At this point in time, materials from 8 GWAS and 5 replicative studies of uterine fibroids are presented in the literature. According to GWAS data, more than 50 different candidate genes involved in the development of the disease have been identified. However, only 19 genes (CDC42/WNT4, GREB1, ACTRT3/TERC/MYNN/LRRC34, SCFD2/LNX1, SULT1B1, TERT, FGFR4, SYNE1/ESR1, KANK1/ DMRT1, SLK/OBFC1, WT1/CD44/PDHX, BET1L/RIC8A/SIRT3/PSMD13, ATM/C11orf65, SLC38A2, LINC0/FOXO1/FLJ42392, SHBG/TP53, MCM8/TRMT6, TNRC6B, MED12/TEX11/SLC7A3) have shown an association with uterine fibroids in two or more GWAS studies. In 5 conducted replicative studies of uterine fibroids, the involvement in the formation of the disease was confirmed for only 2 (BET1L and TNRC6B) of more than 50 significant candidate genes for uterine fibroids known to date by GWAS. This dictates the need to continue further genetic and epidemiological studies of uterine fibroids in different ethno-territorial groups.