Title : Genetic determinants of uterus combined proliferative diseases in endometriosis
Abstract:
The aim of the study was to study the participation of GWAS-significant polymorphic loci of sex hormone genes in the development of mixed proliferative diseases of the uterus in patients with endometriosis. Materials and methods. The sample for the study included 395 women, including 103 patients with isolated endometriosis and 292 patients with endometriosis in combination with uterine fibroids and/or endometrial hyperplasia. The women were examined at the Perinatal Center of the St. Joseph Regional Clinical Hospital in Belgorod. Molecular genetic testing of seven GWAS-significant variants of single-nucleotide polymorphism of sex hormone genes (rs11031002, rs112295236, rs34670419, rs1641549, rs117585797, rs11031005, rs148982377) was performed for all women. The associations of polymorphic variants with the risk of concomitant proliferative diseases of the uterus in patients with endometriosis were analyzed. The online programs HaploReg and Gtex Portal were used to evaluate the functional effects of SNP associated with the formation of combined proliferative uterine diseases in women with endometriosis. Results. Genetic variant A rs117585797 of the ANO2 gene is a risk factor for combined proliferative diseases of the uterus in women with endometriosis (p=0.05, ?perm=0.05, OR=4.29). According to the data obtained in silico, the rs117585797 locus localized in the intron of the ANO2 gene affects the affinity of the regulatory DNA motif to the transcription factors Crx and Gsc. Conclusion. SNP rs117585797 of the ANO2 gene is related to a high risk of the formation of combined proliferative diseases of the uterus in women with endometriosis.
