Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China.
Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China; Department of Ophthalmology and Visual Sciences, Prince of Wales Hospital, Hong Kong, China; Hong Kong Eye Hospital, Kowloon, Hong Kong, China.
Ophthalmology. 2016 Jun;123(6):1211-21. doi: 10.1016/j.ophtha.2015.12.027. Epub 2016 Feb 4.
Systematic review and meta-analysis of the genetic associations of primary angle-closure disease (PACD).
To confirm the genetic biomarkers for PACD, including primary angle-closure glaucoma (PACG) and related phenotypes.
We searched in the MEDLINE and EMBASE databases for genetic studies of PACG or other PACD published from the start dates of the databases to May 11, 2015. We estimated the summary odds ratios (ORs) and 95% confidence intervals (CIs) for each polymorphism in PACG, primary angle-closure suspect (PACS), and primary angle-closure (PAC) using fixed- or random-effect models. We also performed sensitivity analysis to test the robustness of the results.
Our literature search yielded 6463 reports. Among them, we identified 24 studies that fulfilled the eligibility criteria for meta-analysis, involving 28 polymorphisms in 11 genes/loci. We affirmed the association of PACG and combined PACS/PAC/PACG with 10 polymorphisms in 8 genes/loci, including COL11A1 (rs3753841-G, OR, 1.22; P = 0.00046), HGF (rs17427817-C, OR, 2.02; P = 6.9E-07; rs5745718-A, OR, 2.11; P = 9.9E-07), HSP70 (rs1043618, GG+GC, OR, 0.52; P = 0.0010), MFRP (rs2510143-C, OR, 0.66; P = 0.012; rs3814762-G, OR, 1.40; P = 0.0090), MMP9 (rs3918249-C, OR, 1.35; P = 0.034), NOS3 (rs7830-A, OR, 0.80; P = 0.036), PLEKHA7 (rs11024102-G, OR, 1.24; P = 8.3E-05), and PCMTD1-ST18 (rs1015213-A, OR, 1.59; P = 0.00013). Sensitivity analysis indicated that the results were robust.
In this study, we confirmed multiple polymorphisms in 8 genes/loci as genetic biomarkers for PACD, among which 3 were identified in a genome-wide association study (COL11A1, PLEKHA7, and PCMTD1-ST18), and 5 were identified in candidate gene studies (HGF, HSP70, MFRP, MMP9, and NOS3).
原发性闭角型青光眼（PACG）遗传相关性的系统评价和荟萃分析。
为了确认原发性闭角型青光眼（PACG）的遗传生物标志物，包括原发性闭角型青光眼（PACG）和相关表型。
我们检索了 MEDLINE 和 EMBASE 数据库中从数据库开始日期到 2015 年 5 月 11 日发表的关于 PACG 或其他 PACD 的遗传研究。我们使用固定或随机效应模型估计了 PACG、原发性闭角型青光眼可疑（PACS）和原发性闭角（PAC）中每个多态性的汇总优势比（OR）和 95%置信区间（CI）。我们还进行了敏感性分析，以测试结果的稳健性。
我们的文献检索产生了 6463 份报告。其中，我们确定了 24 项符合荟萃分析纳入标准的研究，涉及 11 个基因/位点的 28 个多态性。我们证实了 PACG 和合并的 PACS/PAC/PACG 与 8 个基因/位点的 10 个多态性有关，包括 COL11A1（rs3753841-G，OR，1.22；P=0.00046）、HGF（rs17427817-C，OR，2.02；P=6.9E-07；rs5745718-A，OR，2.11；P=9.9E-07）、HSP70（rs1043618，GG+GC，OR，0.52；P=0.0010）、MFRP（rs2510143-C，OR，0.66；P=0.012；rs3814762-G，OR，1.40；P=0.0090）、MMP9（rs3918249-C，OR，1.35；P=0.034）、NOS3（rs7830-A，OR，0.80；P=0.036）、PLEKHA7（rs11024102-G，OR，1.24；P=8.3E-05）和 PCMTD1-ST18（rs1015213-A，OR，1.59；P=0.00013）。敏感性分析表明，结果是稳健的。
在这项研究中，我们确认了 8 个基因/位点的多个多态性作为 PACD 的遗传生物标志物，其中 3 个是在全基因组关联研究（COL11A1、PLEKHA7 和 PCMTD1-ST18）中发现的，5 个是在候选基因研究（HGF、HSP70、MFRP、MMP9 和 NOS3）中发现的。
