Analysis of gene-gene interactions among patients with endometriosis

Abstract

Endometriosis is a process when benign growth of tissue is found outside of the uterus, the morphological and functional properties of such are alike endometrial [1-4]. The purpose of the study is an analysis of the role of a combination of four genes rs1514175, rs2241423, rs13111134 and rs5930973 in the formation of endometriosis among the population of the Central Cher- nozem Region of Russia.

Material and methods: 1376 individuals were involved in the study group: 395 patients with endometriosis and 981 female control group. Women of Russian nationality who are native of the Central Chernozem Region of the Russian Federation and who aren’t rela- tives were included in the samples of patients and controls. Venous blood was material for the study in a volume of 6 ml taken from the median cubital vein of the proband. The alloca- tion of genomic DNA from peripheral blood was carried out by phenol-chloroform extraction. Study of the polymorphism was carried out using the method of polymerase chain reaction using appropriate primers and probes on the thermocycler IQ5. Results: genotyping of the four studied molecular-genetic markers was conducted. Studying of the distribution of genotypes at the studied loci among the patients with endometriosis and in the control group revealed that Hardy-Weinberg equilibrium (p>0.05) is performed for them. It was found that amongpatients with endometriosis was the lowest frequency of combinations of genetic variants with rs1514175 with A rs2241423 with A rs13111134 and G rs5930973 (of 8.55%) compared to the con- trol group (13,54%, p=0.006; ОR=0,60, 95% CI: 0,40-0,89). Conclusions. In the study it was found that the combination of genetic markers with rs1514175 with A rs2241423 with A rs13111134 and G rs5930973 (ОR=0,60) reduces the risk of developing endometriosis among women of the Cen- tral Chernozem Region of Russia.