Genetics
Meta-analysis identifies two CETP variants among the leading genetic risk factors for polypoidal choroidal vasculopathy in Asians (J Ophthalmol 2018)
Original title: Association of Genes in the High-Density Lipoprotein Metabolic Pathway with Polypoidal Choroidal Vasculopathy in Asian Population: A Systematic Review and Meta-Analysis
A systematic review and meta-analysis searched EMBASE, PubMed and Web of Science through September 2017 for genetic studies of seven SNPs across five HDL-metabolic-pathway genes (CETP, LIPC, LPL, ABCA1, ABCG1) in polypoidal choroidal vasculopathy (PCV), a retinal disease related to age-related macular degeneration (AMD), comparing genetic profiles between PCV and AMD. From 43 identified articles, seven studies qualified for meta-analysis. In Asian populations, CETP rs3764261 (T allele, odds ratio 1.46, 95% CI, 1.28 to 1.665) and CETP rs2303790 (G allele, odds ratio 1.57, 95% CI, 1.258 to 1.96) were significantly associated with PCV, alongside ABCG1 rs57137919, which also showed a different effect size between PCV and AMD. The other four polymorphisms in LIPC, LPL and ABCA1 showed no significant PCV association. The authors conclude CETP (rs3764261, rs2303790) and ABCG1 (rs57137919) are the major susceptibility genes for PCV in Asian populations, though sample sizes for both conditions were small and warrant confirmation in larger cohorts.
Original 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.
Summary written by cetpinhibition.org from the published abstract; figures as published. Page updated 18 August 2026. Methods.