PDF(Pubmed)
Abstract：
This comprehensive review explores the genetic contributions to endometriosis and their potential impact on improving diagnostic techniques. The review begins by defining endometriosis and discussing its prevalence, emphasizing the need for a deeper understanding of the genetic basis of the condition. It highlights recent genome-wide association studies (GWAS) that have identified specific genetic variants associated with endometriosis, shedding light on the molecular pathways and mechanisms involved. The review addresses genetic heterogeneity across different populations and ethnicities, emphasizing the importance of considering population-specific markers in diagnostic approaches. It explores the diagnostic implications of genetic insights, including the potential use of genetic markers for precise and early detection, as well as risk prediction. The review also delves into the integration of genetic information with clinical parameters and imaging findings, and the exploration of multi-omics approaches for a comprehensive understanding of endometriosis. It discusses recent studies on genetic and epigenetic biomarkers, their potential as diagnostic tools, and the need for validation in independent cohorts. The review highlights the impact of new genomic technologies, such as next-generation sequencing, in improving diagnostic accuracy and personalized management. It identifies the challenges and future directions in translating genetic findings into diagnostic tools and emphasizes the transformative potential of genetic insights in endometriosis diagnosis. This review provides a roadmap for future research and underscores the significance of genetic insights in improving diagnostic precision and personalized care for individuals with endometriosis.
摘要：
这篇综合综述探讨了子宫内膜异位症的遗传贡献及其对改进诊断技术的潜在影响。该综述首先定义了子宫内膜异位症并讨论了其患病率，强调需要更深入地了解病情的遗传基础。它强调了最近的全基因组关联研究（GWAS），这些研究已经确定了与子宫内膜异位症相关的特定遗传变异。揭示所涉及的分子途径和机制。这篇综述涉及不同人群和种族的遗传异质性，强调在诊断方法中考虑群体特异性标志物的重要性。它探讨了遗传见解的诊断意义，包括潜在的基因标记用于精确和早期检测，以及风险预测。该综述还深入研究了遗传信息与临床参数和影像学发现的整合，以及探索多组学方法以全面了解子宫内膜异位症。它讨论了遗传和表观遗传生物标志物的最新研究，他们作为诊断工具的潜力，以及需要在独立队列中进行验证。这篇综述强调了新基因组技术的影响，比如下一代测序，提高诊断准确性和个性化管理。它确定了将遗传发现转化为诊断工具的挑战和未来方向，并强调了遗传见解在子宫内膜异位症诊断中的转化潜力。这篇综述为未来的研究提供了路线图，并强调了遗传见解在提高子宫内膜异位症患者的诊断精度和个性化护理方面的重要性。
