Department of Environmental Science, University of Calcutta, 35, Ballygunge Circular Road, Kolkata, 700019, India.
Department of Biotechnology, St. Xavier's College (Autonomous), 30, Mother Teresa Sarani, Kolkata, 700016, India.
Reprod Sci. 2022 Feb;29(2):480-496. doi: 10.1007/s43032-021-00752-7. Epub 2021 Oct 25.
Polycystic ovary syndrome (PCOS) is a multifactorial endocrinopathy of indistinguishable etiopathogenesis that is liable to entail genetic and environmental machinery synergistically interacting with its phenotypic expression. It has been hypothesized that the environment secondarily interacts with genes to define the quantifiable phenotype in a primary, genetically determined, hyper-androgenic ovarian defect. The severity and prevalence of the disease are escalating due to uncontrolled diet and lifestyle, the influence of multiple environmental factors as well as genetic disorders. Many candidate genes have been identified to be one of the causes of PCOS. Different studies have been carried out to find the genetic correlation of PCOS. The mutational landscape analysis scans the entire genes for SNPs which usually occurs more frequently in patients and not in healthy individuals. In this study, an extensive computational analysis of all reported nsSNPs of the 27 selected PCOS-related genes was performed to infer the most pathogenic forms associated with PCOS. As a result, 28 genetic variants from 11 genes were predicted to be most harmful. Results of the present study can be useful for building an integrative genotype-phenotype database for further studies.
多囊卵巢综合征（PCOS）是一种病因不明的多因素内分泌疾病，易受遗传和环境机制的协同作用及其表型表达的影响。有人假设，环境与基因的相互作用可以在主要的、遗传决定的、高雄激素卵巢缺陷中定义可量化的表型。由于饮食和生活方式不受控制、多种环境因素以及遗传疾病的影响，该病的严重程度和流行率正在上升。许多候选基因被认为是 PCOS 的原因之一。已经进行了许多研究来寻找 PCOS 的遗传相关性。突变景观分析扫描整个基因中的 SNPs，这些 SNPs 通常在患者中比在健康个体中更频繁地发生。在这项研究中，对 27 个选定的 PCOS 相关基因的所有报告的 nsSNP 进行了广泛的计算分析，以推断与 PCOS 相关的最具致病性形式。结果，从 11 个基因中预测了 28 种遗传变异是最有害的。本研究的结果可用于建立综合的基因型-表型数据库，以进一步研究。
