Genetic Association Analysis of Drusen Progression.

Abstract:

PURPOSE:Age-related macular degeneration is a common form of vision loss affecting older adults. The etiology of AMD is multifactorial and is influenced by environmental and genetic risk factors. In this study, we examine how 19 common risk variants contribute to drusen progression, a hallmark of AMD pathogenesis. METHODS:Exome chip data was made available through the International AMD Genomics Consortium (IAMDGC). Drusen quantification was carried out with color fundus photographs using an automated drusen detection and quantification algorithm. A genetic risk score (GRS) was calculated per subject by summing risk allele counts at 19 common genetic risk variants weighted by their respective effect sizes. Pathway analysis of drusen progression was carried out with the software package Pathway Analysis by Randomization Incorporating Structure. RESULTS:We observed significant correlation with drusen baseline area and the GRS in the age-related eye disease study (AREDS) dataset (ρ = 0.175, P = 0.006). Measures of association were not statistically significant between drusen progression and the GRS (P = 0.54). Pathway analysis revealed the cell adhesion molecules pathway as the most highly significant pathway associated with drusen progression (corrected P = 0.02). CONCLUSIONS:In this study, we explored the potential influence of known common AMD genetic risk factors on drusen progression. Our results from the GRS analysis showed association of increasing genetic burden (from 19 AMD associated loci) to baseline drusen load but not drusen progression in the AREDS dataset while pathway analysis suggests additional genetic contributors to AMD risk.

authors

Hoffman JD,van Grinsven MJ,Li C,Brantley M Jr,McGrath J,Agarwal A,Scott WK,Schwartz SG,Kovach J,Pericak-Vance M,Sanchez CI,Haines JL

doi

10.1167/iovs.15-18571

subject

Has Abstract

pub_date

2016-04-01 00:00:00

pages

2225-31

issue

4

eissn

0146-0404

issn

1552-5783

pii

2518412

journal_volume

57

pub_type

杂志文章
  • Dual cognitive task affects reaching and grasping behavior in subjects with macular disorders.

    abstract:PURPOSE:Subjects with macular disorders need longer time to plan and execute a reaching and grasping task compared with normally sighted controls. In everyday life it is normal to perform reaching and grasping movements while simultaneously carrying out a cognitively demanding task. We investigated whether a simultaneo...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.12-11045

    authors: Pardhan S,Zuidhoek S

    更新日期:2013-05-07 00:00:00

  • Retinal cell responses to elevated intraocular pressure: a gene array comparison between the whole retina and retinal ganglion cell layer.

    abstract:PURPOSE:To determine and compare gene expression patterns in the whole retina and retinal ganglion cell layer (RGCL) in a rodent glaucoma model. METHODS:IOP was unilaterally elevated in Brown Norway rats (N = 26) by injection of hypertonic saline and monitored for 5 weeks. A cDNA microarray was used on whole retinas f...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.09-4663

    authors: Guo Y,Cepurna WO,Dyck JA,Doser TA,Johnson EC,Morrison JC

    更新日期:2010-06-01 00:00:00

  • Ciliary body thickness and refractive error in children.

    abstract:PURPOSE:To determine whether ciliary body thickness (CBT) is related to refractive error in school-age children. METHODS:Fifty-three children, 8 to 15 years of age, were recruited. CBT was measured from anterior segment OCT images (Visante; Carl Zeiss Meditec, Inc., Dublin, CA) at 1 (CBT1), 2 (CBT2) and 3 (CBT3) mm po...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.08-2008

    authors: Bailey MD,Sinnott LT,Mutti DO

    更新日期:2008-10-01 00:00:00

  • Gender-related differences in the morphology of the lacrimal gland.

    abstract::Previous research has demonstrated that distinct, gender-related differences exist in the morphology of the rat lacrimal gland. The purpose of the present study was to determine whether this sexual dimorphism is unique to the rat, or extends as well to other species. Lacrimal glands were collected from adult male and ...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:

    authors: Cornell-Bell AH,Sullivan DA,Allansmith MR

    更新日期:1985-08-01 00:00:00

  • Alpha-internexin as a corneal autoantigen in spontaneous autoimmune keratitis mouse model.

    abstract:PURPOSE:The purpose of this study was to identify target antigens of autoimmune keratitis with a disease-prone mouse model. METHODS:BALB/c nude mice grafted with embryonic rat thymi (TG nude mice) develop various organ-localized autoimmune lesions, including keratitis. A hybridoma producing a monoclonal antibody (OT-2...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.05-0774

    authors: Hattori T,Takeuchi M,Ohno K,Ogawara M,Asatani T,Usui Y,Muramatsu R,Inagaki M,Usui M,Taguchi O

    更新日期:2006-01-01 00:00:00

  • Adherence to occlusion therapy in the first six months of follow-up and visual acuity among participants in the Infant Aphakia Treatment Study (IATS).

    abstract:PURPOSE:Achieving good vision in infants born with a unilateral cataract is believed to require early surgery and consistent occlusion of the fellow eye. This article examines the relationship between adherence to patching and grating acuity. METHODS:Data came from the Infant Aphakia Treatment Study, a randomized clin...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章,多中心研究,随机对照试验

    doi:10.1167/iovs.11-8457

    authors: Drews-Botsch CD,Celano M,Kruger S,Hartmann EE,Infant Aphakia Treatment Study.

    更新日期:2012-06-05 00:00:00

  • The role of type III secretion system and lens material on adhesion of Pseudomonas aeruginosa to contact lenses.

    abstract:PURPOSE:To determine the distribution of invasive and cytotoxic genotypes among ocular isolates of P. aeruginosa and investigate the influence of the type III secretion system (T3SS) on adhesion to conventional, cosmetic, and silicone hydrogel contact lenses (CL). METHODS:Clinical isolates from 2001 to 2010 were analy...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.11-8184

    authors: Shen EP,Tsay RY,Chia JS,Wu S,Lee JW,Hu FR

    更新日期:2012-09-21 00:00:00

  • Induction of autophagy and cell death by tamoxifen in cultured retinal pigment epithelial and photoreceptor cells.

    abstract:PURPOSE:We investigated the mechanism of tamoxifen (TAM) retinotoxicity using human retinal pigment epithelial (RPE)-derived (ARPE-19) and photoreceptor-derived (661W) cells. METHODS:Cultured ARPE-19 and 661W cells were treated with 5 to 10 μM TAM, and the resultant cell death was quantified using lactate dehydrogenas...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.12-9827

    authors: Cho KS,Yoon YH,Choi JA,Lee SJ,Koh JY

    更新日期:2012-08-09 00:00:00

  • Mechanical properties of the human posterior lens capsule.

    abstract:PURPOSE:To investigate mechanical properties of the human posterior lens capsule. METHODS:Twenty-five human donor eyes were obtained from an eye bank. The age of the donors ranged from 1 to 94 years. Test specimens were prepared as tissue rings from posterior lens capsules by means of excimer laser. Capsular thickness...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.02-0096

    authors: Krag S,Andreassen TT

    更新日期:2003-02-01 00:00:00

  • Vascular endothelial growth factor-C promotes alloimmunity by amplifying antigen-presenting cell maturation and lymphangiogenesis.

    abstract:PURPOSE:To investigate the role of anti-vascular endothelial growth factor (VEGF)-C therapy in corneal graft survival and concomitant suppression of hem- and lymph-angiogenesis. METHODS:Corneal suture model in BALB/c mice was placed and immunohistochemical staining was performed with CD31/PECAM-1 and LYVE-1 to quantif...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.11-8668

    authors: Hajrasouliha AR,Funaki T,Sadrai Z,Hattori T,Chauhan SK,Dana R

    更新日期:2012-03-09 00:00:00

  • Protein Composition of TGFBI-R124C- and TGFBI-R555W-Associated Aggregates Suggests Multiple Mechanisms Leading to Lattice and Granular Corneal Dystrophy.

    abstract:PURPOSE:Transforming growth factor beta-induced (TGFBI)-related dystrophies constitute the most common heritable forms of corneal dystrophy worldwide. However, other than the underlying genotypes of these conditions, a limited knowledge exists of the exact pathomechanisms of these disorders. This study expands on our p...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.15-16922

    authors: Courtney DG,Poulsen ET,Kennedy S,Moore JE,Atkinson SD,Maurizi E,Nesbit MA,Moore CB,Enghild JJ

    更新日期:2015-07-01 00:00:00

  • Effect of iontophoretic and topical application of antiviral agents in treatment of experimental HSV-1 keratitis in rabbits.

    abstract::Cathodal (-) iontophoresis of 9-beta-D-arabinofuranosyl-adenine 5'-monophosphate (vidarabine monophosphate; Ara-AMP) was performed once daily for 3 days for the treatment of experimental herpes simplex virus type 1 (HSV-1) keratitis in rabbit eyes, and the therapeutic efficacy was compared with that of topical treatme...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:

    authors: Kwon BS,Gangarosa LP,Park NH,Hull DS,Fineberg E,Wiggins C,Hill JM

    更新日期:1979-09-01 00:00:00

  • Pupillometer-based objective chromatic perimetry in normal eyes and patients with retinal photoreceptor dystrophies.

    abstract:PURPOSE:To evaluate a novel objective perimetry using multifocal chromatic pupil light reflex in normal participants and patients with photoreceptor dysfunction, and to relate this new technique with subjective dark-adapted chromatic Goldmann perimetry. METHODS:Thirty-two eyes of 17 retinitis pigmentosa (RP) or cone-r...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.12-11127

    authors: Skaat A,Sher I,Kolker A,Elyasiv S,Rosenfeld E,Mhajna M,Melamed S,Belkin M,Rotenstreich Y

    更新日期:2013-04-17 00:00:00

  • Rhesus monkey lens as an in vitro model for studying oxidative stress.

    abstract::Lenses from young rhesus monkeys were incubated in the presence of H2O2 or oxygen radical generating systems to determine their suitability as a model for investigating lenticular oxidative stress. Additionally, direct comparisons were made between the effects found with the monkey lenses and those observed with cultu...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:

    authors: Zigler JS Jr,Lucas VA,Du XY

    更新日期:1989-10-01 00:00:00

  • Effect of Uveal Melanocytes on Choroidal Morphology in Rhesus Macaques and Humans on Enhanced-Depth Imaging Optical Coherence Tomography.

    abstract:Purpose:To compare cross-sectional choroidal morphology in rhesus macaque and human eyes using enhanced-depth imaging optical coherence tomography (EDI-OCT) and histologic analysis. Methods:Enhanced-depth imaging-OCT images from 25 rhesus macaque and 30 human eyes were evaluated for choriocapillaris and choroidal-scle...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.16-20070

    authors: Yiu G,Vuong VS,Oltjen S,Cunefare D,Farsiu S,Garzel L,Roberts J,Thomasy SM

    更新日期:2016-10-01 00:00:00

  • Cholinergic agonists activate P2X7 receptors to stimulate protein secretion by the rat lacrimal gland.

    abstract:PURPOSE:To determine the interaction of M3 muscarinic receptors (M3AChR) and P2X(7) receptors to increase intracellular [Ca2+] ([Ca2+]i) and stimulate protein secretion in rat lacrimal gland cells. METHODS:Exorbital lacrimal glands from male Sprague-Dawley rats were divided into pieces or digested with collagenase to ...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.11-7210

    authors: Dartt DA,Hodges RR

    更新日期:2011-05-01 00:00:00

  • Contributing factors to corneal deformation in air puff measurements.

    abstract:PURPOSE:Air puff systems have been presented recently to measure corneal biomechanical properties in vivo. In our study we tested the influence of several factors on corneal deformation to an air puff: IOP, corneal rigidity, dehydration, presence of sclera, and in vivo versus in vitro conditions. METHODS:We used 14 fr...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.13-12509

    authors: Kling S,Marcos S

    更新日期:2013-07-26 00:00:00

  • Tear film, contact lens, and patient factors associated with corneal staining.

    abstract:PURPOSE:The purpose of this study was to examine ocular surface and tear film, contact lens, care solution, medical, and patient-related factors that are associated with corneal staining in contact lens wearers. METHODS:In this cross-sectional/nested case-control study, in addition to the assessment of corneal stainin...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.10-5757

    authors: Nichols JJ,Sinnott LT

    更新日期:2011-02-28 00:00:00

  • Activin expression by cultured human retinal pigment epithelial cells.

    abstract:PURPOSE:To determine whether human retinal pigment epithelial (hRPE) cells produce activin, a growth factor in the transforming growth factor beta family, and to characterize growth regulatory effects of activin on retinal pigment epithelium. METHODS:mRNA expression was examined using polymerase chain reaction with pr...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:

    authors: Jaffe GJ,Harrison CE,Lui GM,Roberts WL,Goldsmith PC,Mesiano S,Jaffe RB

    更新日期:1994-06-01 00:00:00

  • Plasminogen activator activity in vitamin A-deficient rat corneas.

    abstract::Plasminogen activator (PA) activity during epithelial wound healing in vitamin A-deficient rats was investigated to determine whether a relationship exists between corneal defect formation and PA activity. Uniform, central 3 mm diameter corneal epithelial wounds were made by scalpel debridement in vitamin A-deficient ...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:

    authors: Hayashi K,Frangieh G,Kenyon KR,Berman M,Wolf G

    更新日期:1988-12-01 00:00:00

  • Characterization of a novel family of ciliary body glycoproteins.

    abstract:PURPOSE:To isolate and characterize ciliary body epithelial antigens reactive with a monoclonal antibody, 2B4.14.1. METHODS:A mouse monoclonal antibody generated against human corneal endothelium, 2B4.14.1 reacts with nonpigmented epithelium of human and guinea pig ciliary bodies. The ciliary body proteins reactive wi...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:

    authors: Howell DN,Ross JR,Miller SE,Sanfilippo FP

    更新日期:1994-07-01 00:00:00

  • Photochemical kinetics of corneal cross-linking with riboflavin.

    abstract:PURPOSE:To model the photochemical kinetics of corneal cross-linking with riboflavin (Rf) and confirm the model through measured oxygen concentration experiments under varying energy input conditions by UV-A irradiance and temperature modulation in ex vivo porcine cornea. METHODS:A theoretical model was developed to d...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.11-9385

    authors: Kamaev P,Friedman MD,Sherr E,Muller D

    更新日期:2012-04-30 00:00:00

  • Impact of vitamin A supplementation on prevalence and incidence of xerophthalmia in Nepal.

    abstract:PURPOSE:To assess the impact of vitamin A supplementation at 4-month intervals on the prevalence and incidence of xerophthalmia among preschool-age children. METHODS:A stratified, random sample of 40 wards with 4766 children in Sarlahi district of Nepal was selected to participate in a randomized, controlled, communit...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:

    authors: Katz J,West KP Jr,Khatry SK,Thapa MD,LeClerq SC,Pradhan EK,Pokhrel RP,Sommer A

    更新日期:1995-12-01 00:00:00

  • Visible-Light Optical Coherence Tomography Angiography for Monitoring Laser-Induced Choroidal Neovascularization in Mice.

    abstract:PURPOSE:This study sought to determine the earliest time-point at which evidence of choroidal neovascularization (CNV) could be detected with visible-light optical coherence tomography angiography (vis-OCTA) in a mouse model of laser-induced CNV. METHODS:Visible light-OCTA was used to study laser-induced CNV at differ...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.15-18891

    authors: Shah RS,Soetikno BT,Yi J,Liu W,Skondra D,Zhang HF,Fawzi AA

    更新日期:2016-07-01 00:00:00

  • The aging Meibomian gland: an in vivo confocal study.

    abstract:PURPOSE:To evaluate age-related Meibomian gland (MG) changes by in vivo laser scanning confocal microscopy (LSCM). METHODS:Asymptomatic healthy subjects (n=100, age range 20-83 years) with an Ocular Surface Disease Index score of less than 13 were consecutively enrolled. Two additional groups, one composed of subjects...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.13-11914

    authors: Villani E,Canton V,Magnani F,Viola F,Nucci P,Ratiglia R

    更新日期:2013-07-16 00:00:00

  • Autoregulation of retinal circulation in response to decrease of perfusion pressure.

    abstract::Autoregulation of the retinal circulation in response to an acute elevation of intraocular pressure was investigated in 17 subjects (23 eyes) with no ocular abnormalities, by means of the blue field entoptic phenomenon. This phenomenon allows a person to observe leukocytes flowing in his own macular capillaries. Subje...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:

    authors: Riva CE,Sinclair SH,Grunwald JE

    更新日期:1981-07-01 00:00:00

  • Evaluation of antiproliferative agents using a cell-culture model.

    abstract::Chinese hamster ovarian (CHO) cells in culture were used to evaluate the relative antiproliferative potential of drugs. These agents have been used to improve the clinical response after glaucoma filtering surgery. The following drugs were evaluated: 5-fluorouracil (5-FU) as the benchmark, 5-fluorouridine (FUR), 5-flu...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:

    authors: Senderoff RI,Weber PA,Smith DR,Sokoloski TD

    更新日期:1990-12-01 00:00:00

  • RDS gene mutations causing retinitis pigmentosa or macular degeneration lead to the same abnormality in photoreceptor function.

    abstract:PURPOSE:To investigate functional abnormalities in mutations in the peripherin (RDS) gene leading to different clinical types of autosomal dominant retinal disease--macular degeneration and retinitis pigmentosa. METHODS:Patients from two families, one with a mutation in codon 167 (Gly167Asp) leading to macular degener...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:

    authors: Kemp CM,Jacobson SG,Cideciyan AV,Kimura AE,Sheffield VC,Stone EM

    更新日期:1994-07-01 00:00:00

  • Suppression of ICAM-1 in retinal and choroidal endothelial cells by plasmid small-interfering RNAs in vivo.

    abstract:PURPOSE:Leukocytes play a critical role in ocular diseases such as uveitis, diabetic retinopathy, and choroidal neovascularization. Intercellular adhesion molecule (ICAM)-1 is essential for the migration of leukocytes. Control of ICAM-1 expression may lead to therapies for these diseases. Small-interfering ribonucleic ...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.09-3457

    authors: Hirano Y,Sakurai E,Matsubara A,Ogura Y

    更新日期:2010-01-01 00:00:00

  • Retinal Glial and Choroidal Vascular Pathology in Donors Clinically Diagnosed With Stargardt Disease.

    abstract:Purpose:The present study investigated retinal glia and choroidal vessels in flatmounts and sections from individuals with clinically diagnosed Stargardt disease (STGD). Methods:Eyes from three donors clinically diagnosed with STGD were obtained through the Foundation Fighting Blindness (FFB). Genetic testing was perf...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.61.8.27

    authors: Edwards MM,Bonilha VL,Bhutto IA,Bell BA,McLeod DS,Hollyfield JG,Lutty GA

    更新日期:2020-07-01 00:00:00