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下一代基因测序基因研究的诊断准确性用于原发性玻璃眼:系统性审查和元分析

Yong Liu¹, Di Gong¹, Kuanrong Dang¹

¹Jinan University, Guangdong, China; Shenzhen Eye Hospital, Shenzhen Eye Medical Center, Southern Medical University, China.

Survey of ophthalmology

|October 3, 2025

概括

下一代测序 (NGS) 有助于初级玻璃眼遗传研究. 整体外基因组测序 (WES) 在PCG,POAG和JOAG中表现出色,而面板测序在PACG中是最好的,改善了诊断.

科学领域:

眼科医生眼科眼科
遗传学遗传学是一个
基因组医学是基因组医学.

背景情况:

初级玻璃眼包括几个亚型,包括初级闭角玻璃眼 (PACG),初级先天性玻璃眼 (PCG),初级开角玻璃眼 (POAG) 和青少年开角玻璃眼 (JOAG).
遗传因素在初级绿眼病的病因学中起着至关重要的作用,需要先进的分子技术来进行全面的遗传分析.
了解不同青光眼亚型的遗传情景对于准确的诊断和开发向疗法的发展至关重要.

研究的目的:

系统地审查和评估各种下一代测序 (NGS) 技术在原发性玻璃眼遗传研究中的诊断效用.
为了比较整个外基因组测序 (WES),整个基因组测序 (WGS) 和面板测序在不同初级青光眼亚型的性能.
识别与原发性玻璃眼相关的亚型特定基因和遗传位置.

主要方法:

使用PubMed,Scopus和Web of Science进行了系统审查,数据收集时间为2025年1月19日.
通过QUADAS-2检查表来评估研究质量.
包括19项使用WES,WGS和面板测序进行PACG,PCG,POAG和JOAG遗传分析的研究.

主要成果:

使用NGS技术对原发性玻璃眼的整体诊断率为26.2% (95%CI:15.9%-36.5%).
整体外基因组测序 (WES) 在PCG (46.7%),POAG (8.9%) 和JOAG (12.4%) 中显示出更高的诊断产量.
面板测序显示了PACG中更高的诊断率 (56.4%). 发现的关键基因包括CYP1B1 (PCG),MYOC (JOAG) 和WDR36 (POAG/PACG),其中CYP1B1变异局部于2号染色体上的两个特定区域.

结论:

下一代测序 (NGS) 技术是初级青光眼遗传研究的宝贵工具,具有显著的诊断潜力.
特定亚型的测序策略,如PCG,POAG和JOAG的WES和PACG的面板测序,可以提高诊断精度.
根据亚型特定的方法,进一步研究青光眼遗传学,将促进更准确的诊断和个性化治疗策略.

关键词:

诊断的准确性诊断的准确性基因研究是基因研究.进行元分析分析.这是下一代测序.主要的玻璃眼 glaucoma 是一个主要的玻璃眼.

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