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A Comprehensive Overview of Common Polymorphic Variants in Genes Related to Polycystic Ovary Syndrome

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Abstract

Polycystic ovary syndrome (PCOS) is one of the most common endocrine-metabolic disorders in women of reproductive age. It is characterized by an increase in the biosynthesis of androgens, anovulation, and infertility. PCOS has been reported as a polygenic entity in which multiple single nucleotide polymorphisms (SNPs) are associated with the clinical features of the pathology. Herein, we describe the common polymorphic variants in genes related to PCOS, their role in its pathogenesis, and etiology. Whole-genome association studies have been focused on women from Asian and European populations. The most common genes associated with PCOS are DENND1A, THADA, FSHR, and LHCGR. However, other genes have been associated with PCOS such as AMH, AMHR2, ADIPOQ, FTO, HNF1A, CYP19, YAP1, HMGA2, RAB5B, SUOX, INSR, and TOX3. Nevertheless, the relationship between the biological functions of these genes and the development of the pathology is unclear. Studies in each gene in different populations do not always comply with a general pattern, so researching these variants is essential for better understanding of this polygenic syndrome. Future population studies should be carried out to evaluate biological processes, incidence rates, allelic and genotypic frequencies, and genetic susceptibility factors that predispose PCOS.

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Acknowledgments

This work was developed within the framework of the institutional agreement between the Research Group in Biomedical Sciences of the UPTC (GICBUPTC) and the Group of Public Health Research (HYGEA) at the Universidad de Boyacá.

Funding

This work was supported in part by a grant from the Vice-Rector for Research and Extension and Research direction of the Universidad Pedagógica y Tecnológica de Colombia (UPTC) and the Universidad de Boyacá, Tunja-Colombia, as part of the ID research project SGI 2386 and SGI 2677.

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Author notes

  1. Maribel Forero-Castro and Gloria Camargo-Villalba are sharing senior authorship.

Authors and Affiliations

  1. Maestría en Ciencias Biológicas, Universidad Pedagógica y Tecnológica de Colombia, Tunja, 150003, Colombia

    Tatiana Castillo-Higuera  & Johana Marin-Suarez

  2. Escuela de Ciencias Biológicas. Grupo de investigación en Ciencias Biomédicas (GICBUPTC), Universidad Pedagógica y Tecnológica de Colombia, Avenida Central del Norte 39-115, Tunja, 150003, Colombia

    Tatiana Castillo-Higuera , María Camila Alarcón-Granados , Johana Marin-Suarez  & Maribel Forero-Castro

  3. Departamento Biogenética Reproductiva, Invitro Colombia, Bogotá, Colombia

    Harold Moreno-Ortiz  & Clara Inés Esteban-Pérez

  4. Programa de Medicina. Grupo de investigación HYGEA, Universidad de Boyacá, Tunja, Colombia

    Atilio Junior Ferrebuz-Cardozo  & Gloria Camargo-Vill alba

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  1. Tatiana Castillo-Higuera
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Contributions

Conceptualization: TC-H, MCA-G, JM-S, and MF-C. Writing—original draft preparation: TC-H, MCA-G, and JM-S. Writing—review and editing: All authors. Project administration: All authors. Supervision: MF-C and GC-V. MF-C and GC-V approved the final version of the manuscript.

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Correspondence to Maribel Forero-Castro .

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Castillo-Higuera , T., Alarcón-Granados , M.C., Marin-Suarez , J. et al. A Comprehensive Overview of Common Polymorphic Variants in Genes Related to Polycystic Ovary Syndrome. Reprod. Sci. 28, 2399–2412 (2021). https://doi.org/10.1007/s43032-020-00375-4

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