Genetic Aspects of Myoma: From Somatic Mutations to the Markers of Development

Abstract

Study Objective to identify gene markers that influence the development of uterine myoma in patients with family history of this disease and multiple forms of myoma. Design Canadian Task Force: Level II-2. Setting V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology and Perinatology. Patients or Participants 215 patients scheduled for hysterectomy or myomectomy were organized into 3 groups: group 1 with family history of myoma, group 2 without such family history, group 3 – patients with noinformation about their anamnesis. 30 women were included in the control group. Interventions Collection of blood samples and tissue of the myomatous nodules in studied patients was undertaken. DNA isolation was carried out; genotyping of the obtained material was conducted at six loci (rs3020434, rs11742635, rs124577644, rs12637801, rs2861221, rs17677069) of the ESR1, FBN2, CELF4, KCWMB2 genes. Measurements and Main Results Rare alleles of polymorphisms rs3020434 (TT), rs11742635 (TT), rs2861221 (GG) and rs17677069 (GG) were not found in the group of women with a family history. These women, however, had common forms of the following polymorphisms: CC allele of rs3020434 polymorphism, seen in 73 % of patients, GG variant of rs11742635 observed in 82 %, CC allele of rs2861221,and AA allele of rs17677069 identified in 82 % of women with familial predisposition of uterine myoma. Interestingly, homozygosity in CC allele of rs12637801 was observed in 83.5% of women with multiple myoma and may potentially become a marker for this form of the disease. Conclusion Rare alleles of rs3020434, rs11742635, rs2861221 and rs17677069 polymorphisms can be protective variants against the development of familial forms of uterine myoma. The homozygous variant of СС of rs12637801 can be a predictor of the development of multiple uterine fibroids in a single patient.