title: Association of Genetic Variants with Polypoidal Choroidal Vasculopathy: A Systematic Review and Updated Meta-analysis.
abstract: OBJECTIVE
  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).
  
  
  CONCLUSIONS
  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.affiliation: Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China.
authors.forename: Li
authors.initials: L
authors.lastname: Ma
authors.affiliation: Joint Shantou International Eye Center, Shantou University and the Chinese University of Hong Kong, Shantou, China.
authors.forename: Zhen
authors.initials: Z
authors.lastname: Li
authors.affiliation: Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China; Shenzhen Eye Hospital, Shenzhen, China.
authors.forename: Ke
authors.initials: K
authors.lastname: Liu
authors.affiliation: Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China.
authors.forename: Shi Song
authors.initials: SS
authors.lastname: Rong
authors.affiliation: 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.
authors.forename: Marten E
authors.initials: ME
authors.lastname: Brelen
authors.affiliation: 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.
authors.forename: Alvin L
authors.initials: AL
authors.lastname: Young
authors.affiliation: Narayana Nethralaya, Health City, Bangalore, India.
authors.forename: Govindasamy
authors.initials: G
authors.lastname: Kumaramanickavel
authors.affiliation: 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.
authors.forename: Chi Pui
authors.initials: CP
authors.lastname: Pang
authors.affiliation: Joint Shantou International Eye Center, Shantou University and the Chinese University of Hong Kong, Shantou, China.
authors.forename: Haoyu
authors.initials: H
authors.lastname: Chen
authors.affiliation: 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.
authors.forename: Li Jia
authors.initials: LJ
authors.lastname: Chen
mesh_terms: D020256:Choroidal Neovascularization / Q000235:genetics*; D003937:Diagnosis, Differential; D005136:Eye Proteins / Q000235:genetics; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D011127:Polyps / Q000235:genetics*; D057135:Wet Macular Degeneration / Q000235:genetics*
chemical_list: D005136:Eye Proteins; D005819:Genetic Markers