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由于子宫内膜拷贝数变异,患者反复植入失败和不孕与整合素β3升高密切相关。

Repeated implantation failures and infertility in patients are strongly associated with elevated integrin B3 due to endometrial copy number variation.

作者信息

Xu Hong-Xia, Liu Sheng-Ni, Xiang Xiaoyi, Lei Yan, Li Yun-Xiu, Tang Xiang-Jing, Yu Jian-Mei, Tao Li-Mei, Wu Ze, Li Li

机构信息

H Xu, Department of Reproductive Medicine, First People's Hospital of Yunnan Province, Kunming, China.

S Liu, Medicine, University of Bristol, Bristol, United Kingdom of Great Britain and Northern Ireland.

出版信息

Reprod Fertil. 2025 Feb 1;6(1). doi: 10.1530/RAF-24-0088.

Abstract

This study reveals the association between gene copy number variants (CNVs) and integrin expression in endometrial tissue, especially focusing on patients with repeated implantation failure and unexplained infertility. The CNV expression, integrin αVβ3 (by real-time quantitative polymerase chain reaction and protein immunoblotting), and related clinical indicators were investigated by analyzing endometrial samples from 48 patients with repeated implantation failures and 10 patients with infertility and with no history of implantation issues. The results revealed the presence of CNVs in approximately 31.04% of patients with infertility, mainly affecting chromosomes 2, 5, 6, 7, 10, 11, 15, 19, and X. Age was associated with CNV occurrence. Integrin β3 expression was significantly higher in the CNV group than in the non-CNV group among patients with repeated implant failure. Clinical indicators related to coagulation were significantly different between the CNV and non-CNV groups. The study indicated a potential association between CNVs, increased integrin β3 expression, and recurrent implant failure. The study provides new information for understanding the complex interactions between genetic variants, integrin function, and coagulation factors by integrating advanced molecular diagnostic techniques, thereby emphasizing the need for a personalized approach in reproductive medicine. These results may redefine the diagnostic paradigm for recurrent implantation failure, laying the foundation for future translational applications.

摘要

本研究揭示了基因拷贝数变异(CNV)与子宫内膜组织中整合素表达之间的关联,尤其关注反复种植失败和不明原因不孕症患者。通过分析48例反复种植失败患者和10例无种植问题病史的不孕症患者的子宫内膜样本,研究了CNV表达、整合素αVβ3(通过实时定量聚合酶链反应和蛋白质免疫印迹法)及相关临床指标。结果显示,约31.04%的不孕症患者存在CNV,主要影响2号、5号、6号、7号、10号、11号、15号、19号染色体和X染色体。年龄与CNV的发生有关。在反复种植失败的患者中,CNV组的整合素β3表达显著高于非CNV组。CNV组和非CNV组之间与凝血相关的临床指标存在显著差异。该研究表明CNV、整合素β3表达增加与反复种植失败之间可能存在关联。该研究通过整合先进的分子诊断技术,为理解基因变异、整合素功能和凝血因子之间的复杂相互作用提供了新信息,从而强调了生殖医学中个性化方法的必要性。这些结果可能会重新定义反复种植失败的诊断范式,为未来的转化应用奠定基础。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ae48/11949522/84ff1675ab22/RAF-24-0088fig1.jpg

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