Abstract

Study Objective Study of role of the combination genetic polymorphisms rs7759938, rs7766109 and rs13111134 in formation of endometriosis. Design Prospective cohort study. Setting Perinatal center St. Joasaph Belgorod Regional Clinic Hospital. Patients or Participants The research group consisted of 688 women between 2010 and 2013, of which 252 endometriosis patients and 436 persons of the control group. Main group and control group included Russian women who were native of Central Region of Russia and who were not relatives to each other. Patients with endometriosis were provided with clinical and gynecological examination, ultrasound investigation if pelvic floor, laparoscopic inspection with histologic confirmation after biopsy. Interventions Typing of single nucleotide polymorphism of the following genes was performed for patients with endometriosis women from control group: rs7759938, rs7766109 and rs13111134. Analysis of roles of combinations of genetic variants in occurrence of endometriosis was performed with the help of APSampler software. Measurements and Main Results It has been discovered that combination of genetic variants C rs7759938 with A rs7766109 and A rs13111134 occur in 10.89% of sick women, respectively, which is 1.86 times lower than that occur in control group (20.23%, pbonf=0.03). When there are these combination of polymorphic markers, pathology risk of endometriosis is significantly lower (OR=0.48, CI 0.35-0.66). Conclusion Protective meaning at formation of endometriosis belongs to combination of genetic variants C rs7759938 with A rs7766109 and A rs13111134 (OR=0.48).

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