INSR gene Exome Sequencing Results in patients with PCOS

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dc.contributor.authorArıkan, Yunus
dc.contributor.authorOnat, Taylan
dc.date.accessioned2024-08-04T19:42:52Z
dc.date.available2024-08-04T19:42:52Z
dc.date.issued2023
dc.departmentİnönü Üniversitesien_US
dc.description.abstractObjective: 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.en_US
dc.identifier.doi10.34087/cbusbed.1358355
dc.identifier.endpage419en_US
dc.identifier.issn2147-9607
dc.identifier.issue4en_US
dc.identifier.startpage411en_US
dc.identifier.trdizinid1218823en_US
dc.identifier.urihttps://doi.org/10.34087/cbusbed.1358355
dc.identifier.urihttps://search.trdizin.gov.tr/yayin/detay/1218823
dc.identifier.urihttps://hdl.handle.net/11616/88770
dc.identifier.volume10en_US
dc.indekslendigikaynakTR-Dizinen_US
dc.language.isoenen_US
dc.relation.ispartofCelal Bayar Üniversitesi Sağlık Bilimleri Enstitüsü Dergisien_US
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.titleINSR gene Exome Sequencing Results in patients with PCOSen_US
dc.typeArticleen_US

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