OBJECTIVES The retinoic acid receptor (RAR)-related orphan receptor α gene (RORA) is implicated as a candidate for age-related macular degeneration (AMD) through a previous microarray expression study, linkage data, biological plausibility, and 2 clinic-based cross-sectional studies. We aimed to determine if common variants in RORA predict future risk of neovascular AMD. METHODS We measured g...

PURPOSE To investigate polymorphisms in a candidate gene of interleukin (IL) in unrelated Taiwan Chinese patients with late age-related macular degeneration (AMD) and control subjects without AMD. METHODS In this retrospective, case-control study, 312 unrelated Taiwan Chinese patients with late AMD and 180 age- and sex-matched control subjects were enrolled. Late AMD was classified as either ...

OBJECTIVE A novel locus in the hepatic lipase (LIPC) gene was found to be significantly related to advanced age-related macular degeneration (AMD) in our genome-wide association study. We evaluated its association and interaction with previously identified genetic variants and modifiable factors. METHODS Participants in the Age-Related Eye Disease Study with advanced AMD (n=545 cases) or no A...

To better understand the mechanisms of ischemia-reperfusion (I/R) injury, we tested the hypothesis that protein synthesis is involved in the production of tumor necrosis factor (TNF) and in the microvascular transport changes in I/R. To evaluate the hypothesis, we inhibited protein synthesis with topically applied actinomycin D (AMD), measured I/R-induced changes in microvascular transport, and...

PURPOSE To examine the mtDNA control regions in normal and age-related macular degeneration (AMD) retinas. To identify the mtDNA variations associated with AMD. METHODS Retinas from 10 normal and 11 AMD globes were isolated and analyzed for mtDNA rearrangements by long extension-polymerase chain reaction (LX-PCR) and for the nature and frequency of single-nucleotide polymorphisms (SNPs) in th...

BACKGROUND Age-related macular degeneration (AMD), a most common eye disease, can lead to irreversible visual impairment. Age, genetic and environmental factors have been implicated in AMD. Chemokine (C-X3-C motif) receptor 1 (CX3CR1) gene polymorphisms could influence the susceptibility of AMD. METHODS We tested the association between AMD and single nocleotide polymorphisms (SNPs) of CX3CR1...

AIM This study aimed to explore the prevalence of and risk factors for age-related macular degeneration (AMD) in an elderly population in Nepal. SUBJECTS AND METHODS This is a population-based, cross-sectional study. A sample size of 2,100 was calculated. A total of 1,860 (88.6%) subjects aged >60 years were enrolled for the study from 30 clusters in the district. Detailed history, visual acu...

PURPOSE Nonsynonymous coding single nucleotide polymorphisms (nsSNPs) in complement component 3 (C3) alter the risk of age-related macular degeneration (AMD). This was a study of the effect of haplotypes across C3 on AMD risk. METHODS Nine SNPs tagging haplotypes across C3 were genotyped on 738 subjects at the Mayo Clinic. Haplotype analyses were performed with and without conditioning on ind...

Accelerated molecular dynamics (aMD) has been shown to enhance conformational space sampling relative to classical molecular dynamics; however, the exponential reweighting of aMD trajectories, which is necessary for the calculation of free energies relating to the classical system, is oftentimes problematic, especially for systems larger than small poly peptides. Here, we propose a method of ac...

PURPOSE To examine the effect of apolipoprotein E (APOE) alleles on age-related macular degeneration (AMD) risk and on age at diagnosis of AMD in a large patient cohort recruited from a single center. METHODS The frequency of APOE alleles was analyzed in 632 unrelated AMD patients and 206 unrelated controls, all of whom were of white ancestry. The presence or absence of disease symptoms in al...