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Genetic associations in polypoidal choroidal vasculopathy: a systematic review and meta-analysis.

ABSTRACT: PURPOSE: To investigate the genetic associations of polypoidal choroidal vasculopathy (PCV), the genetic difference between PCV and age-related macular degeneration (AMD), and the genotype-phenotype correlation of PCV. METHODS: A systematic review and meta-analysis were performed. Published articles about genetic associations of PCV identified from a literature search were reviewed. The following data from individual studies were extracted and analyzed: 1) comparison of genetic polymorphisms between PCV and controls; 2) comparison of genetic polymorphisms between PCV and AMD; and 3) comparison of phenotypes between different genotype groups. RESULTS: A total of 33 articles fulfilled the inclusion criteria. With meta-analyses, variants in four genes were found to be significantly associated with PCV: LOC387715 rs10490924 (n=9, allelic odds ratio [OR]=2.27, p<0.00001), HTRA1 rs11200638 (n=4, OR=2.72, p<0.00001), CFH rs1061170 (n=4, OR=1.72, p<0.00001), CFH rs800292 (n=5, OR=2.10, p<0.00001), and C2 rs547154 (n=3, OR=0.56, p=0.01). LOC387715 rs10490924 was the only variant showing a significant difference between PCV and wet AMD (n=5, OR=0.66, p<0.00001). The risk genotypes of rs10490924 were associated with larger lesion size, greater chance of vitreous hemorrhage, and worse therapeutic response in PCV. CONCLUSIONS: LOC387715 rs10490924 was associated with PCV and its clinical manifestations, and showed a discrepant distribution between PCV and AMD. Variants in HTRA1, CFH, and C2 were also associated with PCV.

SUBMITTER: Chen H

PROVIDER: S-EPMC3324368 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature

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Genetic associations in polypoidal choroidal vasculopathy: a systematic review and meta-analysis.

Chen Haoyu H Liu Ke K Chen Li Jia LJ Hou Ping P Chen Weiqi W Pang Chi Pui CP

Molecular vision 20120404

<h4>Purpose</h4>To investigate the genetic associations of polypoidal choroidal vasculopathy (PCV), the genetic difference between PCV and age-related macular degeneration (AMD), and the genotype-phenotype correlation of PCV.<h4>Methods</h4>A systematic review and meta-analysis were performed. Published articles about genetic associations of PCV identified from a literature search were reviewed. The following data from individual studies were extracted and analyzed: 1) comparison of genetic poly ...[more]

PMID: 22509112

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Project description:Purpose To evaluate the diagnostic value of spectral-domain optical coherence tomography (SD-OCT) for polypoidal choroidal vasculopathy (PCV). Methods A search of electronic databases was conducted from 2010 to 2021 to review the relevant literature on SD-OCT to identify PCV and other lesions causing serious or serosanguinous retinal pigment epithelial detachment (PED), specifically neovascular age-related macular degeneration (nvAMD). The QUADAS-2 scale was used to evaluate the quality of the literature. We performed a meta-analysis, including heterogeneity tests, analyze and synthesize the study data, meta-regression analysis, subgroup analysis, Fagan's plot, sensitivity analysis and publication bias tests. Results A total of 12 related studies involving 1,348 eyes were included in this study, and the random-effects model was used for meta-analysis. The results showed that the pooled sensitivity of SD-OCT in the diagnosis of PCV was 0.87 (95% CI: 0.84–0.89), the pooled specificity was 0.83 (95% CI: 0.80–0.86), and the pooled positive/negative likelihood ratios were 5.38 (95% CI: 3.28–8.80) and 0.16 (95% CI: 0.10–0.25), respectively. The diagnostic odds ratio (DOR) was 36.07 (95% CI: 15.98–81.40), and the area under the sROC curve (AUC) was 0.9429. When the pre–test probability was set at 20%, the post-test positive and negative probabilities were 58% and 4%, respectively. Meta-regression indicated that race was the primary source of heterogeneity (P <0.05). The Deeks' funnel plot showed no significant publication bias in this study (P>0.05). Conclusion SD-OCT has high sensitivity and specificity for the diagnosis of PCV, as well as significant clinical applicability. Since color fundus photography (CFP) is more clinically available and can improve the diagnostic efficacy, we recommend SD-OCT combined with CFP to diagnose PCV, especially without indocyanine green angiography (ICGA). Systematic Review Registration https://inplasy.com/inplasy-2021-12-0048/, identifier: INPLASY2021120048.

Dataset Information

Genetic associations in polypoidal choroidal vasculopathy: a systematic review and meta-analysis.

Publications

Genetic associations in polypoidal choroidal vasculopathy: a systematic review and meta-analysis.

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