Table 1_Genetics of ovulatory dysfunction and infertility: a scoping review and gene ontology analysis.xlsx

BackgroundThe genetic components of the etiologies of ovulatory dysfunction-related infertility (ODRI) are poorly characterized.
ObjectivesThis paper aimed to comprehensively identify, compile, and categorize published research on relationships between genetics and ovulatory-related infertility in humans.
MethodsA scoping review was performed on research articles relating human genes, ovulatory dysfunction, and infertility retrieved from PubMed and Web of Science databases. A total of 45 articles were included in the study. The data has been organized into three categories based on relevant findings: polycystic ovary syndrome (PCOS), premature ovarian insufficiency (POI), and other diagnoses related to ovulatory dysfunction and infertility.
ResultsSources revealed 235 different genes linked to ovulatory dysfunction and infertility including follicle-stimulating hormone receptor (FSHR), luteinizing hormone/choriogonadotropin receptor (LHCGR), and bone morphogenic protein 15 (BMP15). PCOS-related articles revealed variants in genes with functions focused on androgen production, such as LHCGR and FSHR. POI-related articles revealed variants in genes with functions focused on folliculogenesis and pubertal development, such as BMP15 and STAG3, stromal antigen 3. The “other” category revealed genes resulting in enzyme deficiencies interacting with a wide range of functions.
ConclusionsIn this review, we have highlighted the extreme variability in what is known about the genetics of ODRI by compiling and categorizing genes identified in the literature as associated with ODRI and its associated subtypes. We have also provided a comprehensive list of ODRI genes specifically identified in humans. The findings from this review, specifically the list of ODRI genes, can be used for targeted gene panel development in assisted reproductive technology to improve clinical testing and diagnosis, as well as in developing individualized treatment strategies for ODRI patients.

背景：排卵功能障碍相关性不孕（ovulatory dysfunction-related infertility, ODRI）的病因遗传基础尚未得到充分阐明。
研究目的：本研究旨在全面识别、整理并分类已发表的关于人类遗传学与排卵功能障碍相关性不孕之间关联的研究成果。
研究方法：本研究针对从PubMed及Web of Science数据库中检索到的、涉及人类基因、排卵功能障碍与不孕的研究文献开展范围综述。最终纳入45篇相关文献。根据研究结果，所整理的数据被划分为三类：多囊卵巢综合征（polycystic ovary syndrome, PCOS）、早发性卵巢功能不全（premature ovarian insufficiency, POI），以及其他与排卵功能障碍和不孕相关的病症。
研究结果：本次检索共发现235个与排卵功能障碍及不孕相关的基因，包括促卵泡激素受体（follicle-stimulating hormone receptor, FSHR）、黄体生成素/绒毛膜促性腺激素受体（luteinizing hormone/choriogonadotropin receptor, LHCGR）以及骨形态发生蛋白15（bone morphogenic protein 15, BMP15）。与PCOS相关的文献显示，部分基因变异参与雄激素生成过程，例如LHCGR与FSHR。与POI相关的文献显示，部分基因变异参与卵泡发生与青春期发育过程，例如BMP15及基质抗原3（stromal antigen 3, STAG3）。“其他”类别则涵盖了与多种生理功能相关的酶缺陷相关基因。
结论：本范围综述通过整理并分类文献中报道的与ODRI及其亚型相关的基因，阐明了当前关于ODRI遗传学认知的极大异质性。本研究同时提供了一份专门针对人类的ODRI相关基因的全面列表。本综述的研究结果，尤其是ODRI相关基因列表，可用于辅助生殖技术领域的靶向基因检测组合开发，以优化临床检测与诊断流程，同时可为ODRI患者制定个体化治疗策略提供参考。