BIOLOGICAL ASPECTS OF MYOMETRIAL HYPERPLASIA: THE POSSIBLE ROLE OF CLINICALLY SIGNIFICANT GENE VARIANTS

A.B. Chukhlovin1, 3, Areg A.Totolian2, 3
1First I.P. Pavlov St. Petersburg State Medical University, L’va Tolstogo Str., 6/8, St. Petersburg, Russian Federation, 197089;
2St. Petersburg Pasteur Institute of Epidemiology and Microbiology, Mira Str., 14, St. Petersburg, Russian Federation, 197101;
3V.А. Almazov Federal Research Medical Center, Akkuratova Str., 2, St. Petersburg, Russian Federation, 197341

The aim of our review article was to analyze different biological effects associated with functional allelic variants of certain genes upon the incidence and clinical course of uterine leiomyoma (UL) and some other hyperplastic uterine disorders. Based on a number of representative studies devoted to the assessment the frequency of a set of functional allelic variants in LM cases there was performed the search for the most sound in the pathogenetical view genes influencing on the prevalence and clinical manifestations of this socially significant disease. When studying different female populations, we have yielded data on possible modulating effects of polymorphic genes-regulators controlling synthesis and degradation of steroid hormones, and also estrogen, androgen and progesterone receptors, cytokine genes and matrix metalloproteinases upon the relative risk of the development of UL, its rate of the growth and focality. In general, functional variants of estrogen and progesterone receptor genes, as well as those of matrix metalloproteinases may sufficiently influence the risks of UL evolution and the character of its clinical course. However, clinical effects of these genes differ for various ethnic groups, thus limiting their general predictive value.
Keywords: 
uterine leiomyoma, gene polymorphism, estrogen receptors, cytokines, matrix metalloproteinases