Erin E DiPietro, Sara M Sarasua, Casey S Hopkins, Satishkumar Ranganathan Ganakammal, Luigi Boccuto, Joshua Hurwitz
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引用次数: 0
Abstract
Background: The genetic components of the etiologies of ovulatory dysfunction-related infertility (ODRI) are poorly characterized.
Objectives: This paper aimed to comprehensively identify, compile, and categorize published research on relationships between genetics and ovulatory-related infertility in humans.
Methods: A 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.
Results: Sources 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.
Conclusions: In 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症（ODRI）病因的遗传成分特征不明显。目的：本文旨在全面识别、汇编和分类已发表的关于遗传学与人类排卵相关性不孕症之间关系的研究。方法：对从PubMed和Web of Science数据库中检索的有关人类基因、排卵功能障碍和不孕症的研究文章进行范围审查。本研究共纳入45篇文章。根据相关发现将数据分为三类：多囊卵巢综合征（PCOS）、卵巢功能不全（POI）以及与排卵功能障碍和不孕症相关的其他诊断。结果：资料显示235种不同的基因与排卵功能障碍和不孕症有关，包括促卵泡激素受体（FSHR）、促黄体生成素/绒毛膜促性腺激素受体（LHCGR）和骨形态发生蛋白15 （BMP15）。与pcos相关的文章揭示了功能集中于雄激素产生的基因的变异，如LHCGR和FSHR。poi相关文章揭示了与卵泡发生和青春期发育有关的基因变异，如BMP15和STAG3，基质抗原3。“其他”类别揭示了导致酶缺陷的基因与广泛的功能相互作用。结论：在这篇综述中，我们通过整理和分类文献中与ODRI及其相关亚型相关的基因，强调了已知的ODRI遗传学的极端可变性。我们还提供了一份全面的ODRI基因清单，这些基因是专门在人类中鉴定出来的。本综述的研究结果，特别是ODRI基因列表，可用于辅助生殖技术的靶向基因面板开发，以提高临床检测和诊断，以及制定针对ODRI患者的个性化治疗策略。
期刊介绍：
Frontiers in Endocrinology is a field journal of the "Frontiers in" journal series.
In today’s world, endocrinology is becoming increasingly important as it underlies many of the challenges societies face - from obesity and diabetes to reproduction, population control and aging. Endocrinology covers a broad field from basic molecular and cellular communication through to clinical care and some of the most crucial public health issues. The journal, thus, welcomes outstanding contributions in any domain of endocrinology.
Frontiers in Endocrinology publishes articles on the most outstanding discoveries across a wide research spectrum of Endocrinology. The mission of Frontiers in Endocrinology is to bring all relevant Endocrinology areas together on a single platform.
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