{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T08:29:44Z","timestamp":1782376184534,"version":"3.54.5"},"reference-count":35,"publisher":"MDPI AG","issue":"17","license":[{"start":{"date-parts":[[2024,8,25]],"date-time":"2024-08-25T00:00:00Z","timestamp":1724544000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Universidad Pedag\u00f3gica y Tecnol\u00f3gica de Colombia (UPTC)","award":["SGI code 3795-VIE 07 of 2024"],"award-info":[{"award-number":["SGI code 3795-VIE 07 of 2024"]}]},{"name":"Universidad Pedag\u00f3gica y Tecnol\u00f3gica de Colombia (UPTC)","award":["SGI code 2386-VIE 05 of 2018"],"award-info":[{"award-number":["SGI code 2386-VIE 05 of 2018"]}]},{"name":"Universidad Pedag\u00f3gica y Tecnol\u00f3gica de Colombia (UPTC)","award":["SGI code 2677-VIE 06 of 2019"],"award-info":[{"award-number":["SGI code 2677-VIE 06 of 2019"]}]},{"name":"Universidad de Boyac\u00e1","award":["SGI code 3795-VIE 07 of 2024"],"award-info":[{"award-number":["SGI code 3795-VIE 07 of 2024"]}]},{"name":"Universidad de Boyac\u00e1","award":["SGI code 2386-VIE 05 of 2018"],"award-info":[{"award-number":["SGI code 2386-VIE 05 of 2018"]}]},{"name":"Universidad de Boyac\u00e1","award":["SGI code 2677-VIE 06 of 2019"],"award-info":[{"award-number":["SGI code 2677-VIE 06 of 2019"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Polycystic ovary syndrome (PCOS) is an endocrine and metabolic disorder with high prevalence in women around the world. The identification of single-nucleotide polymorphisms (SNPs) through genome-wide association studies has classified it as a polygenic disease. Most studies have independently evaluated the contribution of each SNP to the risk of PCOS. Few studies have assessed the effect of epistasis among the identified SNPs. Therefore, this exploratory study aimed to evaluate the interaction of 27 SNPs identified as risk candidates and their contribution to the pathogenesis of PCOS. The study population included 49 control women and 49 women with PCOS with a normal BMI. Genotyping was carried out through the MassARRAY iPLEX single-nucleotide polymorphism typing platform. Using the multifactor dimensionality reduction (MDR) method, the interaction between SNPs was evaluated. The analysis showed that the best interaction model (p &lt; 0.0001) was composed of three loci (rs11692782-FSHR, rs2268361-FSHR, and rs4784165-TOX3). Furthermore, a tendency towards synergy was evident between rs2268361 and the SNPs rs7371084\u2013rs11692782\u2013rs4784165, as well as a redundancy in rs7371084\u2013rs11692782\u2013rs4784165. This pilot study suggests that epistasis may influence PCOS pathophysiology. Large-scale analysis is needed to deepen our understanding of its impact on this complex syndrome affecting thousands of women.<\/jats:p>","DOI":"10.3390\/ijms25179212","type":"journal-article","created":{"date-parts":[[2024,8,26]],"date-time":"2024-08-26T07:53:37Z","timestamp":1724658817000},"page":"9212","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Exploring Genetic Interactions in Colombian Women with Polycystic Ovarian Syndrome: A Study on SNP-SNP Associations"],"prefix":"10.3390","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0038-5580","authenticated-orcid":false,"given":"Maria Camila","family":"Alarc\u00f3n-Granados","sequence":"first","affiliation":[{"name":"Faculty of Sciences, Universidad Pedag\u00f3gica y Tecnol\u00f3gica de Colombia, Tunja 150003, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gloria Eugenia","family":"Camargo-Villalba","sequence":"additional","affiliation":[{"name":"Medicine Program, Faculty of Health Sciences, Universidad de Boyac\u00e1, Tunja 150003, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5205-8891","authenticated-orcid":false,"given":"Maribel","family":"Forero-Castro","sequence":"additional","affiliation":[{"name":"Faculty of Sciences, Universidad Pedag\u00f3gica y Tecnol\u00f3gica de Colombia, Tunja 150003, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,8,25]]},"reference":[{"key":"ref_1","unstructured":"Rasquin, L.I., Anastasopoulou, C., and Mayrin, J.V. 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