A Comprehensive Overview of Common Polymorphic Variants in Genes Related to Polycystic Ovary Syndrome
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REVIEW
A Comprehensive Overview of Common Polymorphic Variants in Genes Related to Polycystic Ovary Syndrome Tatiana Castillo-Higuera 1,2 & María Camila Alarcón-Granados 2 & Johana Marin-Suarez 1,2 & Harold Moreno-Ortiz 3 & Clara Inés Esteban-Pérez 3 & Atilio Junior Ferrebuz-Cardozo 4 & Maribel Forero-Castro 2 & Gloria Camargo-Vill alba 4 Received: 2 September 2020 / Accepted: 21 October 2020 # Society for Reproductive Investigation 2020
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. Keywords PCOS . Susceptibility loci . Genetic variants . Genetic associations . Polymorphisms
Introduction Polycystic ovary syndrome (PCOS) is a disorder at the endocrine and metabolic level that affects 6 to 10% of young Maribel Forero-Castro and Gloria Camargo-Villalba are sharing senior authorship. Supplementary Information The online version contains supplementary material available at https://doi.org/10.1007/s43032-02000375-4. * Maribel Forero-Castro [email protected] 1
Maestría en Ciencias Biológicas, Universidad Pedagógica y Tecnológica de Colombia, Tunja 150003, Colombia
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
3
Departamento Biogenética Reproductiva, Invitro Colombia, Bogotá, Colombia
4
Programa de Medicina. Grupo de investigación HYGEA, Universidad de Boyacá, Tunja, Colombia
women [1–4]. It is present in 75% of hirsute women and in 10% of premenopausal women [5]. The syndrome, described in 1935 by Stein and Leventhal, is characterized by the absence of menstruation, irregular menstrual cycles, anovulation, hirsutism, obesity, ovarian cysts, and infertility [6]. In 2003 the Rotterdam Con
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