Li Ma1, Zhen Li2, Ke Liu3, Shi Song Rong1, Marten E Brelen4, Alvin L Young4, Govindasamy Kumaramanickavel5, Chi Pui Pang6, Haoyu Chen2, Li Jia Chen7. 1. Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China. 2. Joint Shantou International Eye Center, Shantou University and the Chinese University of Hong Kong, Shantou, China. 3. Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China; Shenzhen Eye Hospital, Shenzhen, 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. 5. Narayana Nethralaya, Health City, Bangalore, India. 6. Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China; Joint Shantou International Eye Center, Shantou University and the Chinese University of Hong Kong, Shantou, China; Department of Ophthalmology and Visual Sciences, Prince of Wales Hospital, Hong Kong, China. 7. Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China; Joint Shantou International Eye Center, Shantou University and the Chinese University of Hong Kong, Shantou, China; Department of Ophthalmology and Visual Sciences, Prince of Wales Hospital, Hong Kong, China. Electronic address: lijia_chen@cuhk.edu.hk.
Abstract
TOPIC: A systematic review and meta-analysis of the genetic association with polypoidal choroidal vasculopathy (PCV) and the genetic difference between PCV and neovascular age-related macular degeneration (nAMD). CLINICAL RELEVANCE: To identify genetic biomarkers that are potentially useful for genetic diagnosis of PCV and for differentiating PCV from nAMD. METHODS: We performed a literature search in EMBASE, PubMed, Web of Science, and the Chinese Biomedical Database for PCV genetic studies published before February 6, 2015. We then conducted a meta-analysis of all polymorphisms that had sufficient genotype/allele data reported in ≥2 studies and estimated the summary odds ratio (OR) and 95% confidence intervals (CIs) for PCV. We also compared the association profiles between PCV and nAMD, and performed a sensitivity analysis. RESULTS: A total of 66 studies were included in the meta-analysis, involving 56 polymorphisms in 19 genes/loci. In total, 31 polymorphisms in 10 genes/loci (age-related maculopathy susceptibility 2 [ARMS2], high-temperature requirement factor A1 [HTRA1], complement factor H [CFH], complement component 2 [C2], CFB, RDBP, SKIV2L, CETP, 8p21, and 4q12) were significantly associated with PCV. Another 25 polymorphisms in 13 genes (ARMS2, HTRA1, C2, CFB, ELN, LIPC, LPL, ABCA1, VEGF-A, TLR3, LOXL1, SERPING1, and PEDF) had no significant association. Twelve polymorphisms at the ARMS2-HTRA1 locus showed significant differences between PCV and nAMD. The sensitivity analysis validated the significance of our analysis. CONCLUSIONS: This study revealed 31 polymorphisms in 10 genes/loci that contribute to PCV susceptibility. Among them, ARMS2-HTRA1 also showed allelic diversity between PCV and nAMD. Our results confirm the gene variants that could affect the phenotypic expressions of PCV and nAMD.
TOPIC: A systematic review and meta-analysis of the genetic association with polypoidal choroidal vasculopathy (PCV) and the genetic difference between PCV and neovascular age-related macular degeneration (nAMD). CLINICAL RELEVANCE: To identify genetic biomarkers that are potentially useful for genetic diagnosis of PCV and for differentiating PCV from nAMD. METHODS: We performed a literature search in EMBASE, PubMed, Web of Science, and the Chinese Biomedical Database for PCV genetic studies published before February 6, 2015. We then conducted a meta-analysis of all polymorphisms that had sufficient genotype/allele data reported in ≥2 studies and estimated the summary odds ratio (OR) and 95% confidence intervals (CIs) for PCV. We also compared the association profiles between PCV and nAMD, and performed a sensitivity analysis. RESULTS: A total of 66 studies were included in the meta-analysis, involving 56 polymorphisms in 19 genes/loci. In total, 31 polymorphisms in 10 genes/loci (age-related maculopathy susceptibility 2 [ARMS2], high-temperature requirement factor A1 [HTRA1], complement factor H [CFH], complement component 2 [C2], CFB, RDBP, SKIV2L, CETP, 8p21, and 4q12) were significantly associated with PCV. Another 25 polymorphisms in 13 genes (ARMS2, HTRA1, C2, CFB, ELN, LIPC, LPL, ABCA1, VEGF-A, TLR3, LOXL1, SERPING1, and PEDF) had no significant association. Twelve polymorphisms at the ARMS2-HTRA1 locus showed significant differences between PCV and nAMD. The sensitivity analysis validated the significance of our analysis. CONCLUSIONS: This study revealed 31 polymorphisms in 10 genes/loci that contribute to PCV susceptibility. Among them, ARMS2-HTRA1 also showed allelic diversity between PCV and nAMD. Our results confirm the gene variants that could affect the phenotypic expressions of PCV and nAMD.
Authors: Eleftherios I Agorogiannis; Ian A Pearce; Sohraab Yadav; David G Parry; Nicholas A V Beare Journal: Eye (Lond) Date: 2018-07-12 Impact factor: 3.775
Authors: Li Ma; Fang Yao Tang; Wai Kit Chu; Alvin L Young; Marten E Brelen; Chi Pui Pang; Li Jia Chen Journal: Sci Rep Date: 2016-01-22 Impact factor: 4.379