Polycystic Ovarian Syndrome: A Complex Disease with a Genetics Approach

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dc.authoridAl-Abbasi, Fahad/0000-0001-5609-4913
dc.authoridImam, Syed Sarim/0000-0002-8913-0826
dc.authoridKazmi, Imran/0000-0003-1881-5219
dc.authoridKazmi, Imran/0000-0003-1881-5219
dc.authoridAfzal, Muhammad/0000-0003-2570-3223
dc.authoridGhoneim, Mohammed M./0000-0002-9179-4373
dc.authoridAlzarea, Sami/0000-0003-4007-4023
dc.authorwosidAl-Abbasi, Fahad/GQP-6183-2022
dc.authorwosidImam, Syed Sarim/Z-3769-2019
dc.authorwosidKazmi, Imran/GRJ-9647-2022
dc.authorwosidKazmi, Imran/GSD-2298-2022
dc.authorwosidKazmi, Imran/AAO-3922-2020
dc.authorwosidAfzal, Muhammad/I-6313-2019
dc.authorwosidGhoneim, Mohammed M./ABE-7965-2021
dc.contributor.authorNautiyal, Himani
dc.contributor.authorImam, Syed Sarim
dc.contributor.authorAlshehri, Sultan
dc.contributor.authorGhoneim, Mohammed M.
dc.contributor.authorAfzal, Muhammad
dc.contributor.authorAlzarea, Sami I.
dc.contributor.authorGüven, Emine
dc.date.accessioned2023-07-26T11:50:43Z
dc.date.available2023-07-26T11:50:43Z
dc.date.issued2022
dc.departmentDÜ, Mühendislik Fakültesi, Biyomedikal Mühendisliği Bölümüen_US
dc.description.abstractPolycystic ovarian syndrome (PCOS) is a complex endocrine disorder affecting females in their reproductive age. The early diagnosis of PCOS is complicated and complex due to overlapping symptoms of this disease. The most accepted diagnostic approach today is the Rotterdam Consensus (2003), which supports the positive diagnosis of PCOS when patients present two out of the following three symptoms: biochemical and clinical signs of hyperandrogenism, oligo, and anovulation, also polycystic ovarian morphology on sonography. Genetic variance, epigenetic changes, and disturbed lifestyle lead to the development of pathophysiological disturbances, which include hyperandrogenism, insulin resistance, and chronic inflammation in PCOS females. At the molecular level, different proteins and molecular and signaling pathways are involved in disease progression, which leads to the failure of a single genetic diagnostic approach. The genetic approach to elucidate the mechanism of pathogenesis of PCOS was recently developed, whereby four phenotypic variances of PCOS categorize PCOS patients into classic, ovulatory, and non-hyperandrogenic types. Genetic studies help to identify the root cause for the development of this PCOS. PCOS genetic inheritance is autosomal dominant but the latest investigations revealed it as a multigene origin disease. Different genetic loci and specific genes have been identified so far as being associated with this disease. Genome-wide association studies (GWAS) and related genetic studies have changed the scenario for the diagnosis and treatment of this reproductive and metabolic condition known as PCOS. This review article briefly discusses different genes associated directly or indirectly with disease development and progression.en_US
dc.description.sponsorshipDeanship of Scientific Research at Jouf University, Saudi Arabia [DSR-2021-01-0319]en_US
dc.description.sponsorshipThis work was funded by the Deanship of Scientific Research at Jouf University, Saudi Arabia under the grant number (DSR-2021-01-0319).en_US
dc.identifier.doi10.3390/biomedicines10030540
dc.identifier.issn2227-9059
dc.identifier.issue3en_US
dc.identifier.pmid35327342en_US
dc.identifier.scopus2-s2.0-85125490076en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.urihttps://doi.org/10.3390/biomedicines10030540
dc.identifier.urihttps://hdl.handle.net/20.500.12684/12412
dc.identifier.volume10en_US
dc.identifier.wosWOS:000776970400001en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.indekslendigikaynakScopusen_US
dc.institutionauthorGüven, Emine
dc.language.isoenen_US
dc.publisherMdpien_US
dc.relation.ispartofBiomedicinesen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.snmz$2023V1Guncelleme$en_US
dc.subjectPolycystic; Biochemical; Hyperandrogenism; Multigene; Ovulatoryen_US
dc.subjectAndrogen Receptor Gene; Genome-Wide Association; Cag Repeat Polymorphism; Mullerian-Inhibiting Substance; Bone Morphogenetic Protein-15; X-Chromosome Inactivation; Lh Beta-Subunit; Binding Globulin; Luteinizing-Hormone; Insulin-Resistanceen_US
dc.titlePolycystic Ovarian Syndrome: A Complex Disease with a Genetics Approachen_US
dc.typeArticleen_US

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