Role of Tumor Suppressor Genes in PCOS. Role of Tumor Suppressor Gene polymorphisms in the pathophysiology of Polycystic Ovary Syndrome

      Аннотация: Polycystic Ovary Syndrome (PCOS) is a heterogeneous multifactorial endocrine metabolic disorder affecting 6–10% of the reproductive age women. Common symptoms of PCOS include oligoanovulation, hyperandrogenism, acne, hirsutism, obesity, infertility and insulin resistance. Women with PCOS are reported to be at increased risk of number of gynecological neoplasias such as endometrial, breast and ovarian cancer. Tumor suppressor genes (TSGs) perform essential function in the maintenance of genomic stability. Single nucleotide polymorphisms (SNPs) are common DNA sequence variants among individuals which play an essential role in the development of several diseases. SNPs, particularly in the gene promoters and protein encoding regions, may modulate gene function and/or transcriptional efficiency. SNPs of tumor suppressor genes such as TP53, BRCA1, BRCA2, PTEN and VDR might have potential to influence the ovarian function. Analysis of polymorphisms in these genes might help to identify patients at high risk for disease outcome.

Ключевые слова: polycystic ovary syndrome, Tumor Suppressor Genes, Single Nucleotide Polymorphism