Genetic Determinants of Endometriosis and Uterine Myoma Combinatin

Author Name: Irina V. Ponomarenko, Vladimir F. Kulikovskiy, Irina V. Batlutkaya, Alexey V. Polonikov, Mikhail I. Churnosov
Author Email: Ponomarenko_i@bsu.edu.ru

Abstract

Benign proliferative diseases of the uterus, which include uterine myoma and endometriosis occupy a leading place in the structure of gynecological diseases. The objective of the research was a bioinformatic study of the involvement of candidate genes in the formation of a combination of endometriosis with uterine myoma in women. As a result of the study, 5 molecular-genetic markers were genotyped in 109 patients with a combination of endometriosis with uterine myoma and 981 women of the control group. It has been established that the combinations of molecular genetic markers rs466639 with rs713586 and rs10441737 (OR = 2.45) and rs466639 with rs3756261, rs713586 and rs10980926 (OR = 1.36) are risk factors for the development of a combination of endometriosis and uterine myoma among women of the Central region of Russia.

Introduction

The relevance of benign proliferative diseases of the uterus, which include uterine myoma and endometriosis, is associated with a fairly high prevalence and comorbidity of these pathological conditions due to the common etiology and pathogenesis, which explains a similar in most cases clinical pattern.

Endometriosis is a process when benign proliferation of tissue occurs outside the uterine cavity, similar to the endometrium in the morphological and functional properties [Bruner-Tran K.L. et al., 2013]. This disease occurs in 10% of women of reproductive age [Rahmioglu N. et al., 2015] and is one of the main causes of infertility, dysmenorrhea, dyspareunia, as well as chronic pelvic pain, adhesion of the pelvic organs, which together leads to a general deterioration quality of life of women [Truskinovsky A.M. et al., 2014; Ponomarenko I.V. et al., 2016].

Uterine myoma is one of the most common female genital benign tumors that occurs in 20-40% of women of reproductive age [Churnosov M.I. et al., 2014; Taylor D.K. et al., 2015; Pachomov S.P. et al., 2016]. Clinical manifestations of this disease are associated with uterine bleeding, pain, compression of adjacent organs, miscarriage [Commandeur A.E. et al., 2015; Krivoshei I.V. et al., 2015a]. As a consequence, uterine myoma becomes the main cause of hysterectomy in many countries of the world. Benign proliferative diseases of the uterus have a common pathogenesis and therefore often occur concomitantly. Thus, 27% of women with endometriosis have concomitant uterine myoma [Donato N.D. et al., 2014; Krivoshei I.V. et al., 2015 b]. One of the factors predetermining the development of endometriosis and uterine myoma may be the age of menarche and associated candidate genes [Elks C.E. et al., 2010]. The objective of the study was a bioinformatic study of the involvement of candidate genes in the formation of a combination of endometriosis with uterine myoma in women.

Conclusion

Thus, the results of the study allow us to conclude that the combinations of molecular genetic markers rs466639 with rs713586 and rs10441737 (OR = 2.45) and rs466639 with rs3756261, rs713586 and rs10980926 (OR = 1.36) are risk factors for the development of a combination of endometriosis and uterine myoma among women of the Central region of Russia.

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