The relationship between primary ovarian insufficiency and gene variations: a prospective case-control study

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dc.contributor.authorGündüz, Reyhan
dc.contributor.authorTekeş, Selahaddin
dc.contributor.authorÖzpak, Lütfiye
dc.contributor.authorAğaçayak, Elif
dc.contributor.authorTunç, Senem Yaman
dc.contributor.authorİçen, Mehmet Sait
dc.contributor.authorEvsen, Mehmet Siddik
dc.date.accessioned2024-04-24T16:24:36Z
dc.date.available2024-04-24T16:24:36Z
dc.date.issued2024
dc.departmentDicle Üniversitesi, Tıp Fakültesi, Kadın Hastalıkları ve Doğum Ana Bilim Dalıen_US
dc.description.abstractAround 70 percent of cases of Primary Ovarian Insufficiency (POI) etiology remain unexplained. The aim of our study is to contribute to the etiology and genetic background of POI. A total of 37 POI patients and 30 women in the reproductive period were included in this prospective, case-control study between August 2020 and December 2021. The women were examined for 36 genes with next-generation sequencing (NGS) panel. Gene variations were detected in 59.5 percent of the patients in the case group. FSHR p.S680N (rs6166, c.2039 G>A) and FSHR p.A307T (rs6165, c.919 G>A) gene variants, which are most frequently located in exon 10 of the FSHR gene, were detected in both groups. Although it was not found that these gene variants were significantly different between the groups, it was also found that they were significantly different in POI patients under 30 years of age and in those with a family history of POI. Variations were detected in 12 genes in POI patients. Two gene variants (FGFR1 [c.386A>C, rs765615419] and KISS1 [c.58 G>A, rs12998]) were detected in both groups, and the remaining gene variants were detected only in POI patients. No differences were detected between the groups in terms of gene variations. However, the gene variations detected only in POI patients may play a role in the etiology of POI.en_US
dc.description.sponsorshipDUBAP project [TIP.20.039]en_US
dc.description.sponsorshipThis study was carried out with the support of the DUBAP project numbered TIP.20.039.en_US
dc.identifier.citationGündüz, R., Tekeş, S., Özpak, L., Ağaçayak, E., Tunç, S. Y., İçen, M. S. ve diğerleri.(2024). The relationship between primary ovarian insufficiency and gene variations: a prospective case-control study. Women and Health, 64(4), 308-316.
dc.identifier.doi10.1080/03630242.2024.2324319
dc.identifier.endpage316
dc.identifier.endpage
dc.identifier.endpage316
dc.identifier.issn0363-0242
dc.identifier.issn1541-0331
dc.identifier.issue4
dc.identifier.issue4
dc.identifier.pmid38468162
dc.identifier.scopus2-s2.0-85188052590
dc.identifier.scopusqualityQ2
dc.identifier.startpage308
dc.identifier.startpage308
dc.identifier.urihttps://doi.org/10.1080/03630242.2024.2324319
dc.identifier.urihttps://hdl.handle.net/11468/16782
dc.identifier.volume64
dc.identifier.volume64
dc.identifier.wosWOS:001184512000001
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherRoutledge Journals, Taylor & Francis Ltden_US
dc.relation.ispartofWomen & Health
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectFshren_US
dc.subjectGene variationsen_US
dc.subjectPrimary ovarian insufficiencyen_US
dc.titleThe relationship between primary ovarian insufficiency and gene variations: a prospective case-control studyen_US
dc.titleThe relationship between primary ovarian insufficiency and gene variations: a prospective case-control study
dc.typeArticleen_US

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