ABCA1 rs1883025 Polymorphism Shows No Association with Neovascular Age-Related Macular Degeneration or Polypoidal Choroidal Vasculopathy in a Northern Chinese Population

Abstract

Purpose: To analyze the association between ABCA1 rs1883025 variants with neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV) in a northern Chinese population. Methods: The study enrolled 900 subjects, including 300 controls, 300 cases with nAMD and 300 cases with PCV. Genomic DNA was extracted from venous blood leukocytes. Single-nucleotide polymorphisms in the ABCA1 (rs1883025) gene were genotyped by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Results: The ABCA1 rs1883025 polymorphism was not significantly associated with nAMD (22.5%; p > 0.05) or PCV (20.8%; p > 0.05) in a northern Chinese population. The association remained insignificant after adjustment for age and gender differences (p > 0.05). Conclusions: This study suggests that ABCA1 rs1883025 variants are not associated with nAMD or PCV in a Chinese population, which is likely due to an ethnic difference.

The association study of lipid metabolism gene polymorphisms withAMDidentifies a protective role forAPOE‐E2 allele in the wet form in a Northern Spanish population

“…The ABCA1 gene encodes the ABC transporter A1 (ABCA1), a cholesterol efflux pump in the cellular lipid removal pathway (Cavelier et al 2006;Liu & Tang 2012b) expressed in human retina and RPE (Tserentsoodol et al 2006;Duncan et al 2009;Zheng et al 2012 andStorti et al 2017). Although many authors have found an association between ABCA1 rs1883025 and AMD (Chen et al 2010b;Wang et al 2016 andRajendran et al 2018), in the present study no statistical differences were found in the Northern Spanish cohort, in agreement with other reports in Caucasian (Neale et al 2010;Fauser et al 2011 andPeter et al 2011) or Asian populations (Tian et al 2012;Zhang et al 2013 andLi et al 2014). On the other hand, the ABCA4 encodes a protein implicated in the clearance of all-trans-retinal aldehyde from photoreceptors completing the photo-cycle (Papermaster et al 1982;Azarian &Travis 1997 andMolday et al 2000), in which mutations are responsible for Stargardt macular dystrophy, related retinal degenerative diseases and may predispose to AMD (Allikmets 2000;Beharry et al 2004;Ratnapriya & Chew 2013).…”

High-Density Lipoprotein Function in Exudative Age-Related Macular Degeneration

“…Although there have been reports of HDL-related loci associated with AMD [ 3 – 6 , 14 , 15 ], some studies could not confirm these results [ 2 , 16 , 17 ]. Common genetic variants have been found on the cholesteryl ester transfer protein (CETP) gene, which promotes the transfer of cholesteryl-ester from HDL to very low-density and low-density lipoprotein (LDL), the hepatic lipase gene, which is involved in the metabolism of HDL, the apolipoprotein E (apoE) gene, an apolipoprotein of HDL, and the ATP-binding cassette transporter 1 gene, which mediates the efflux of cholesterol and phospholipids to poorly lipidated HDL [ 15 , 18 , 19 ].…”