Shi Song Rong1, Fang Yao Tang1, Wai Kit Chu1, Li Ma1, Jason C S Yam2, Shu Min Tang1, Jian Li1, Hong Gu1, Alvin L Young3, Clement C Tham2, Chi Pui Pang1, Li Jia Chen4. 1. Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China. 2. 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. 3. 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. 4. 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. Electronic address: lijia_chen@cuhk.edu.hk.
Abstract
TOPIC: Systematic review and meta-analysis of the genetic associations of primary angle-closure disease (PACD). CLINICAL RELEVANCE: To confirm the genetic biomarkers for PACD, including primary angle-closure glaucoma (PACG) and related phenotypes. METHODS: 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. 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. CONCLUSIONS: 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).
TOPIC: Systematic review and meta-analysis of the genetic associations of primary angle-closure disease (PACD). CLINICAL RELEVANCE: To confirm the genetic biomarkers for PACD, including primary angle-closure glaucoma (PACG) and related phenotypes. METHODS: 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. 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. CONCLUSIONS: 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).
Authors: Lauren K Wareham; Ana C Dordea; Grigorij Schleifer; Vincent Yao; Annabelle Batten; Fei Fei; Joseph Mertz; Meredith Gregory-Ksander; Louis R Pasquale; Emmanuel S Buys; Rebecca M Sappington Journal: Neurobiol Dis Date: 2018-09-10 Impact factor: 5.996
Authors: Shi Song Rong; Sarah Tsz Ue Ma; Xin Ting Yu; Li Ma; Wai Kit Chu; Tommy Chung Yan Chan; Yu Meng Wang; Alvin L Young; Chi Pui Pang; Vishal Jhanji; Li Jia Chen Journal: Sci Rep Date: 2017-07-04 Impact factor: 4.379