Abstract

Purpose To assess the association of genes in the high-density lipoprotein metabolic pathway (HDLMP) with polypoidal choroidal vasculopathy (PCV) and the genetic difference in the HDLMP between PCV and age-related macular degeneration (AMD). Methods We performed a literature search in EMBASE, PubMed, and Web of Science for genetic studies on 7 single nucleotide polymorphisms (SNPs) from 5 genes in the HDLMP including cholesteryl ester transfer protein (CETP), hepatic lipase (LIPC), lipoprotein lipase (LPL), ATP-binding cassette transporter A1 (ABCA1), and ATP-binding cassette transporter G1 (ABCG1) in PCV. All studies were published before September 30, 2017, without language restriction. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) of each polymorphism were estimated. We also compared the association profiles between PCV and AMD and performed a sensitivity analysis. Results Our result is based on 43 articles. After excluding duplicates and articles without complete information, 7 studies were applicable to meta-analysis. 7 polymorphisms were meta-analyzed: CETP rs2303790/rs3764261, LIPC rs10468017/rs493258, LPL rs12678919, ABCA1 rs1883025, and ABCG1 rs57137919. We found that in Asian population, CETP rs3764261 (T allele; OR = 1.46; 95% CI: 1.28–1.665, P < 0.01), CETP rs2303790 (G allele; OR = 1.57; 95% CI: 1.258–1.96, P < 0.01), and ABCG1 rs57137919 (A allele; OR = 1.168; 95% CI: 1.016–1.343, P < 0.01) were significantly associated with PCV, and ABCG1 rs57137919 (A allele; OR = 1.208, 95% CI: 1.035–1.411, P < 0.01) has different effects in PCV and AMD. The other 4 polymorphisms in LIPC/LPL/ABCA1 had no significant association with PCV (P > 0.05). The sensitivity analysis validated the significance of our analysis. Conclusions Our study revealed 7 polymorphisms in 5 genes. Among them, CETP (rs3764261/rs2303790) and ABCG1 (rs57137919) were the major susceptibility genes for PCV in Asian population and ABCG1 (rs57137919) showed allelic diversity between PCV and AMD. Since the size for PCV and AMD was small, we need to study these genes genotyping in larger samples.

Highlights

  • Polypoidal choroidal vasculopathy (PCV) is a choroidal vascular disease of first described in the early 1980s as polypoidal subretinal vascular lesions associated with serous or hemorrhagic detachment of the retinal pigment epithelium (RPE) [1]

  • Regarding the other 4 single nucleotide polymorphisms (SNPs), LIPC rs10468017/rs493258, lipoprotein lipase (LPL) rs12678919, and ATP-binding cassette transporter A1 (ABCA1) rs1883025, the pooled odds ratios (ORs) were not statistically signi cant in PCV in the allelic (P > 0.05)

  • Meta-Analysis of cholesteryl ester transfer protein (CETP)/LIPC/LPL/ABCA1/ATP-binding cassette transporter G1 (ABCG1) Polymorphisms Compared between PCV and age-related macular degeneration (AMD)

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Summary

Introduction

Polypoidal choroidal vasculopathy (PCV) is a choroidal vascular disease of first described in the early 1980s as polypoidal subretinal vascular lesions associated with serous or hemorrhagic detachment of the retinal pigment epithelium (RPE) [1]. PVC is considered as a subtype of AMD because of some similarities like neovascularization, subretinal hemorrhage and fluid, pigment epithelial detachment (PED), vision loss owing to bleeding, leakage, scar formation, and other similarities in phenotypic features [3,4,5,6]. Many controversial studies demonstrate that PCV should be classified as a distinct disease entity of AMD for their different epidemiological, clinical characteristics, natural history, and treatment outcomes [8,9,10,11]. Recent researches in the field of genetics suggest that

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