Polycystic ovary syndrome (PCOS) is a genetically determined syndrome, accompanied by metabolic
and reproductive disorders. The research of the genetic etiology of PCOS is based on a study of
the possible genes — candidates for diseases that contribute to the syndrome formation, as well as
on the influence of polymorphisms on the current of disease. The goal of research is the study of the relationship between polymorphisms T397C of ERA, G1730A of ERB and endocrine-metabolic disorders in patients with PCOS. In our study we used hormonal, ultrasound methods and general clinical
examination in women with PCOS. Molecular genetic analysis of the relationship of polymorphisms
T397C gene ESR1 and G1730A gene ERB was investigated. A comparative analysis of variants of
genotypes was performed in groups of patients. Based on the results of a study the inheritance of mutant alleles of heterozygous G173A (AluI) gene ERβ could be associated with PCOS. According to the signs of metabolic syndrome in the group with PCOS we can assumed that the defects receptor genes, such as
ERB, cause a cascade of metabolic and hormonal disorders in PCOS.
Изучена взаимосвязь полиморфизмов Т397C гена ERA и G1730A гена ERB и эндокринно-метаболических особенностей у пациенток с синдромом поликистозных яичников (СПКЯ).Основываясь на результатах работы, наследование мутантных гетерозиготных аллелей полиморфизма G173A гена ERB можно рассматривать как ассоциированное с СПКЯ. Учитывая наличие проявлений метаболического синдрома в группе с СПКЯ, можно предположить, что дефекты генов-рецепторов, таких как ERB, являются причиной каскада метаболических и гормональных нарушений при СПКЯ.
