PKOS’lu Hastalarda INSR geni Ekzom Dizileme Sonuçları

Abstract

Objective: Polycystic ovary syndrome (PCOS) is an endocrinopathy that includes findings such as insulin resistance, infertility and hyperandrogenism. Its genetic background continues to be investigated with variations and mutations in various genes. Material and Methods: In current study, we evaluated the clinical and laboratory findings of 16 prospective PCOS patients according to AE-PCOS criteria and analyzed the INSR gene by exome sequencing method. Results: We revealed 4 novel variations, 3 of which we named ourselves. These are NM_000208.4:c.974+82_974+83insT, NM_000208.4:c.974+107_974+108insC, NM_000208.4:c.653-79A>G and rs1449625253 and are all intronic variations. In this study, using the 27 informative SNPs that we found in the INSR gene, we detected two different triple tag SNP blocks showing high linkage disequilibrium score (r2 = 1) for the first time. These blocks are rs2963-rs2245649-rs2245655 and rs6413502-rs41509747-rs73498780. We also revealed the MAF values of variations such as rs7508516, which is the most common, and rs2059807, which we observed in our patients and may be responsible for PCOS. Conclusion: The study is the first study in Turkiye in which the INSR genes of PCOS patients were investigated by exome sequencing method. The study, in which the tag SNPs of the INSR gene were revealed for the first time and we found new candidate variations, provides important data to the literature.