The Study of Polymorphisms Rs3020434, Rs11742635, Rs124577644, Rs12637801, Rs2861221, and Rs17677069 in Women with Familial Uterine Myoma

Study Objective To find genetic markers of family forms of myomas for the optimization of diagnostics, management of patients, and prediction of the risk of recurrence. Design Canadian Task Force: Level II-2. Setting Department of Operative Gynecology, V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology and Perinatology, Ministry of Health of the Russian Federation. Patients or Participants 106 patients with uterine myoma scheduled for hysterectomy or myomectomy were organized into 3 groups: group 1 with family history of myoma; group 2 without such history; group 3 - patients who did not have information about their anamnesis. 24 women represented the control group. Interventions Patients underwent hysterectomy or myomectomy for symptomatic uterine myoma. Individual fibroids and blood of all patients were collected during the surgery. DNA extraction and genotyping of six loci (rs3020434, rs11742635, rs124577644, rs12637801, rs2861221, rs17677069) of the ESR1, FBN2, CELF4, KCWMB2 genes was undertaken. Measurements and Main Results 130 patients were included in the study (51, 36, and 19 women in the first, second, and third groups respectively and 24 patients in the control group). While rare alleles of polymorphisms rs3020434 (TT), rs11742635 (TT), rs2861221 (GG) and rs17677069 (GG) were not found in patients with familial myoma; common forms of these polymorphisms were found in this group and included: CC allele of rs3020434 polymorphism in 73 % (p=0.003), GG variant of rs11742635 in 82 % (p=0.008), and CC allele of rs2861221 and AA allele of rs17677069 in 82 % of these women (p=0.02 and p=0.001, respectively). Conclusion Rare alleles of rs3020434, rs11742635, rs2861221, and rs17677069 polymorphisms can potentially be protective variants in the development of family forms of uterine myoma. Common alleles identified could increase the risk of development of familial myoma. It may be possible to use these alleles as genetic markers for predicting the development of myoma in women with a family history of this disease.