The ARMS2 A69S variant and bilateral advanced age-related macular degeneration.

Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida, USA.
Retina (Philadelphia, Pa.) (Impact Factor: 2.93). 04/2012; 32(8):1486-91. DOI: 10.1097/IAE.0b013e318240a540
Source: PubMed

ABSTRACT To identify genetic associations between specific risk genes and bilateral advanced age-related macular degeneration (AMD) in a retrospective, observational case series of 1,003 patients: 173 patients with geographic atrophy in at least 1 eye and 830 patients with choroidal neovascularization in at least 1 eye.
Patients underwent clinical examination and fundus photography. The images were subsequently graded using a modified grading system adapted from the Age-Related Eye Disease Study. Genetic analysis was performed to identify genotypes at 4 AMD-associated variants (ARMS2 A69S, CFH Y402H, C3 R102G, and CFB R32Q) in these patients.
There were no statistically significant relationships between clinical findings and genotypes at CFH, C3, and CFB. The genotype at ARMS2 correlated with bilateral advanced AMD using a variety of comparisons: unilateral geographic atrophy versus bilateral geographic atrophy (P = 0.08), unilateral choroidal neovascularization versus bilateral choroidal neovascularization (P = 9.0 × 10(-8)), and unilateral late AMD versus bilateral late AMD (P = 5.9 × 10(-8)).
In this series, in patients with geographic atrophy or choroidal neovascularization in at least 1 eye, the ARMS2 A69S substitution strongly associated with geographic atrophy or choroidal neovascularization in the fellow eye. The ARMS2 A69S substitution may serve as a marker for bilateral advanced AMD.

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    ABSTRACT: To evaluate the relationships between plasma malondialdehyde (MDA) level and ARMS2 variants and phenotypes in patients with polypoidal choroidal vasculopathy (PCV) and neovascular age-related macular degeneration (nAMD). This study is a retrospective case-control study. Plasma MDA was measured in 84 controls, 62 patients with PCV, and 42 patients with nAMD. Participants were genotyped for ARMS2 polymorphism. Phenotypes including bilaterality and greatest linear dimension based on fluorescein angiography (FA-GLD) and indocyanine green angiography (ICGA-GLD), were evaluated. Plasma MDA in the PCV and nAMD groups was higher than in the control group (P < 0.001, respectively). For ARMS2 variants, plasma MDA of homozygous high-risk genotype (TT) was higher than that of homozygous low-risk genotype (GG) in all groups (P < 0.001, respectively). Plasma MDA was higher in homozygous high-risk genotype than in heterozygous genotype in the control, PCV, and nAMD groups (P = 0.021, 0.002, and 0.004, respectively). In the nAMD group, there was a correlation between plasma MDA and both FA-GLD (r = 0.418, P = 0.006) and ICGA-GLD (r = 0.329, P = 0.033). There was a difference in plasma MDA between patients with unilateral and bilateral lesions in both PCV and nAMD (P = 0.017 and 0.019, respectively). This study revealed significant relationships between the plasma MDA level and ARMS2 variants and phenotypes in PCV and nAMD.
    Retina (Philadelphia, Pa.) 11/2013; · 2.93 Impact Factor


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May 28, 2014