Polymorphisms of the DNA repair genes XPD and XRCC1 and the risk of age-related macular degeneration.

Abstract:

PURPOSE:Oxidative stress seems to be an important factor in the development of age-related macular degeneration (AMD). The role of DNA repair mechanisms has also received attention recently in AMD pathogenesis. This case-control study was conducted to determine the frequency of polymorphisms in two DNA repair enzyme genes, xeroderma pigmentosum complementation group D (XPD), codons 312 and 751, and x-ray cross-complementing group 1 (XRCC1), codons 194 and 399, in patients with AMD and in disease-free control subjects. METHODS:Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) were used to analyze XPD Asp312Asn and Lys751Gln and XRCC1 Arg194Trp and Arg399Gln in 120 patients with AMD (65 with dry type and 55 with wet type) and in age-matched 205 disease-free control subjects. RESULTS:Genotypic and allelic distributions of the polymorphisms were detected. For the XPD polymorphism, although the allele frequencies were not different between the patients and healthy control subjects, there was a significant difference between frequencies for the XPD751 Gln/Gln genotype in AMD patients (9%) and healthy control subjects (19%; P=0.02). The XPD751 Gln/Gln genotype seemed to have a protective effect against development of AMD (odds ratio, 0.41; 95% confidence interval, 0.19-0.88). Stratification by subtype of AMD revealed that the XPD751 Gln/Gln genotype was significantly lower only in the patients with dry type (P=0.02). These interactions remained nearly significant after Bonferroni correction (P<0.0125). Haplotype analysis for the two XPD polymorphisms revealed that the haplotype GC (312Asp-(751)Gln) was a protective haplotype against AMD. No statistically significant difference was found for the genotypic and allelic distributions of the polymorphisms in the XRCC1 gene between the patients and the control subjects. CONCLUSIONS:Polymorphism in XPD codon 751 may be associated with the development of AMD.

authors

Görgün E,Güven M,Unal M,Batar B,Güven GS,Yenerel M,Tatlipinar S,Seven M,Yüksel A

doi

10.1167/iovs.09-4842

subject

Has Abstract

pub_date

2010-09-01 00:00:00

pages

4732-7

issue

9

eissn

0146-0404

issn

1552-5783

pii

iovs.09-4842

journal_volume

51

pub_type

杂志文章
  • Memantine blocks mitochondrial OPA1 and cytochrome c release and subsequent apoptotic cell death in glaucomatous retina.

    abstract:PURPOSE:To determine whether intraocular pressure (IOP) elevation alters OPA1 expression and triggers OPA1 release, as well as whether the uncompetitive N-methyl-d-aspartate (NMDA) glutamate receptor antagonist memantine blocks OPA1 release and subsequent apoptotic cell death in glaucomatous DBA/2J mouse retina. METHO...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.08-2499

    authors: Ju WK,Kim KY,Angert M,Duong-Polk KX,Lindsey JD,Ellisman MH,Weinreb RN

    更新日期:2009-02-01 00:00:00

  • Macrophages are important determinants of acute ocular HSV-1 infection in immunized mice.

    abstract:PURPOSE:To determine the effect of macrophage depletion on herpes simplex virus type (HAV)-1 replication in the eye and on the establishment of latency in trigeminal ganglia (TG) of immunized and ocularly infected mice. METHODS:BALB/c mice were immunized with five HSV-1 glycoprotein DNA genes or were sham immunized. T...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.07-0894

    authors: Mott K,Brick DJ,van Rooijen N,Ghiasi H

    更新日期:2007-12-01 00:00:00

  • Pathogenesis of persistent hyperplastic primary vitreous in mice lacking the arf tumor suppressor gene.

    abstract:PURPOSE:Persistent hyperplastic primary vitreous (PHPV) is an idiopathic developmental eye disease associated with failed involution of the hyaloid vasculature. The present work addressed the pathogenesis of PHPV in a mouse model that replicates many aspects of the human disease. METHODS:Ophthalmoscopic and histologic...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.04-0349

    authors: Martin AC,Thornton JD,Liu J,Wang X,Zuo J,Jablonski MM,Chaum E,Zindy F,Skapek SX

    更新日期:2004-10-01 00:00:00

  • Expression of the blue-light receptor cryptochrome in the human retina.

    abstract:PURPOSE:To analyze the patterns of expression of the cryptochromes, CRY1 and CRY2, in the human retina and to correlate expression of these putative blue-light receptors with nonvisual photoreceptor localization. METHODS:CRY1 and CRY2 mRNA expression was analyzed in 4-mm diameter punches of macula and midperipheral hu...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.03-0303

    authors: Thompson CL,Bowes Rickman C,Shaw SJ,Ebright JN,Kelly U,Sancar A,Rickman DW

    更新日期:2003-10-01 00:00:00

  • A-type potassium current in retinal arteriolar smooth muscle cells.

    abstract:PURPOSE:By their control of membrane potential and intracellular free Ca(2+) ([Ca(2+)](i)), K(+) currents are pivotal in the regulation of arterial smooth muscle tone. The goal of the present study was to identify and characterize the A-type K(+) current in retinal microvascular smooth muscle (MVSM) and to examine its ...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.04-1465

    authors: McGahon MK,Dawicki JM,Scholfield CN,McGeown JG,Curtis TM

    更新日期:2005-09-01 00:00:00

  • Two types of visual dysfunction in autosomal dominant retinitis pigmentosa.

    abstract::Visual thresholds and rhodopsin levels were determined in nine subjects with autosomal dominant retinitis pigmentosa. The subjects fell into two groups, corresponding to two subtypes of the disease revealed by two-color, dark-adapted static perimetry. In the first of these subtypes, rod-mediated function was variably ...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:

    authors: Kemp CM,Jacobson SG,Faulkner DJ

    更新日期:1988-08-01 00:00:00

  • Vitamin D enhances corneal epithelial barrier function.

    abstract:PURPOSE:The purpose of this study was to determine whether 25-hydroxyvitamin D(3) (25(OH)D(3)) and/or its active metabolite, 1α,25-dihydroxyvitamin D(3) (1,25(OH)(2)D(3)), can enhance corneal epithelial barrier function. The authors also determined if corneas contain mRNA for the vitamin D receptor (VDR) and 1α-hydroxy...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.11-7605

    authors: Yin Z,Pintea V,Lin Y,Hammock BD,Watsky MA

    更新日期:2011-09-21 00:00:00

  • Cholera toxin stimulates adenosine 3',5'-monophosphate synthesis and epithelial wound closure in the rabbit cornea.

    abstract::Rabbit corneas were treated in vitro and in vivo with cholera toxin (CTX), a specific and irreversible activator of adenylate cyclase. Tissue pieces incubated in vitro in the presence of 10 mug/ml CTX for 15 min continuously synthesized adenosine 3',5'-monophosphate (cyclic AMP) at an increased rate for 3 hr in the ab...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:

    authors: Jumblatt MM,Fogle JA,Neufeld AH

    更新日期:1980-11-01 00:00:00

  • Retinal Structure and Function in Perinatally HIV-Infected and cART-Treated Children: A Matched Case-Control Study.

    abstract:PURPOSE:Subtle structural and functional neuroretinal changes have been described in human immunodeficiency virus (HIV)-infected adults without retinitis treated with combination antiretroviral therapy (cART). However, studies on this subject in HIV-infected children are scarce. This study aimed to assess the presence ...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.15-16855

    authors: Demirkaya N,Cohen S,Wit FW,Abramoff MD,Schlingemann RO,Kuijpers TW,Reiss P,Pajkrt D,Verbraak FD

    更新日期:2015-06-01 00:00:00

  • Redistribution and reduction of interphotoreceptor retinoid-binding protein during ocular coronavirus infection.

    abstract::Inoculation of the neurotropic coronavirus mouse hepatitis virus strain JHM intravitreally or into the anterior chamber causes acute infection of the retinal pigment epithelium (RPE) and neural retina. Weeks later, many retinas have foci of moderate to severe atrophy. The effect of coronavirus infection (after intravi...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:

    authors: Robbins SG,Wiggert B,Kutty G,Chader GJ,Detrick B,Hooks JJ

    更新日期:1992-01-01 00:00:00

  • Relationship between retinal layer thickness and the visual field in early age-related macular degeneration.

    abstract:PURPOSE:To quantify and compare the structural and functional changes in subjects with early age-related macular degeneration (AMD), using spectral-domain optical coherence tomography (SD-OCT) and microperimetry. METHODS:Twenty-one eyes of 21 subjects with early AMD were examined. MP-1 10-2 visual fields (VFs) and SD-...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.12-10361

    authors: Acton JH,Smith RT,Hood DC,Greenstein VC

    更新日期:2012-11-09 00:00:00

  • Multisampling suprathreshold perimetry: a comparison with conventional suprathreshold and full-threshold strategies by computer simulation.

    abstract:PURPOSE:To compare a multisampling suprathreshold strategy with conventional suprathreshold and full-threshold strategies in detecting localized visual field defects and in quantifying the area of loss. METHODS:Probability theory was applied to examine various suprathreshold pass criteria (i.e., the number of stimuli ...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.02-1036

    authors: Artes PH,Henson DB,Harper R,McLeod D

    更新日期:2003-06-01 00:00:00

  • Violation of the ISNT rule in Nonglaucomatous pediatric optic disc cupping.

    abstract:PURPOSE:To determine whether nonglaucomatous optic disc cupping in children violates the ISNT rule (which states that for normal optic discs the neuroretinal rim width is greatest in the order inferior >or= superior >or= nasal >or= temporal). METHODS:Digital ocular fundus photographs from a random cohort of children w...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.09-3837

    authors: Pogrebniak AE,Wehrung B,Pogrebniak KL,Shetty RK,Crawford P

    更新日期:2010-02-01 00:00:00

  • Severe Dry Eye With Combined Mechanisms is Involved in the Ocular Sequelae of SJS/TEN at the Chronic Stage.

    abstract::Stevens-Johnson syndrome (SJS), and its more severe variant, toxic epidermal necrolysis (TEN), are life-threatening diseases of the skin and mucous membranes. After the acute-stage damage subsides, serious visual impairment and severe dry eye remains as ocular sequelae. At the acute stage, ocular complications occur i...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章,评审

    doi:10.1167/iovs.18-24019

    authors: Sotozono C,Ueta M,Yokoi N

    更新日期:2018-11-01 00:00:00

  • Sunitinib inhibits inflammatory corneal lymphangiogenesis.

    abstract:PURPOSE:To evaluate the antilymphangiogenic potential of multi-target tyrosine kinase inhibitor sunitinib in corneal neovascularization (NV). METHODS:Inflammatory corneal NV was induced by thermal cauterization applied in the central cornea of mice, to which sunitinib malate was daily administered by gavage or not. At...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.12-10856

    authors: Detry B,Blacher S,Erpicum C,Paupert J,Maertens L,Maillard C,Munaut C,Sounni NE,Lambert V,Foidart JM,Rakic JM,Cataldo D,Noël A

    更新日期:2013-05-03 00:00:00

  • A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy.

    abstract:PURPOSE:To conduct clinical and genetic studies in a European family with autosomal dominant Stargardt-like macular dystrophy (adSTGD-like MD) and to investigate the functional consequences of a novel ELOVL4 mutation. METHODS:Ophthalmic examination and mutation screening by direct sequencing of the ELOVL4 gene was per...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.04-0078

    authors: Maugeri A,Meire F,Hoyng CB,Vink C,Van Regemorter N,Karan G,Yang Z,Cremers FP,Zhang K

    更新日期:2004-12-01 00:00:00

  • In vivo assessment of retinal vascular wall dimensions.

    abstract:PURPOSE:Retinal blood vessel diameter and arteriovenous ratio (AVR) are commonly used diagnostic parameters. Because vascular walls are typically not visible in funduscopy, clinical AVR estimation is based on the lumen rather than the entire vessel diameter. Here the authors used a transgenic mouse model to quantify AV...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.09-5139

    authors: Fischer MD,Huber G,Feng Y,Tanimoto N,Mühlfriedel R,Beck SC,Tröger E,Kernstock C,Preising MN,Lorenz B,Hammes HP,Seeliger MW

    更新日期:2010-10-01 00:00:00

  • Recharacterization of the RGC-5 retinal ganglion cell line.

    abstract:PURPOSE:The transformed RGC-5 retinal ganglion cell line is used widely in glaucoma research. Increased resistance to glutamate was noted in published literature and led to the recharacterization of the RGC-5 cell line. METHODS:Characterization of the RGC-5 cell line was performed by sequencing of a region of the nucl...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.09-3484

    authors: Van Bergen NJ,Wood JP,Chidlow G,Trounce IA,Casson RJ,Ju WK,Weinreb RN,Crowston JG

    更新日期:2009-09-01 00:00:00

  • Stromal vascularization prevents corneal ulceration.

    abstract::Experiments were performed with a model of focal, thermal-induced ulceration to test the clinical impression that vascularization prevents ulceration of the corneal stroma. Slow-release polymers containing a vasoproliferase agent (tumor angiogenesis factor) were placed in corneal pockets 2 mm central to the limbus of ...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:

    authors: Conn H,Berman M,Kenyon K,Langer R,Gage J

    更新日期:1980-04-01 00:00:00

  • Mitomycin C-induced reduction of keratocytes and fibroblasts after photorefractive keratectomy.

    abstract:PURPOSE:To investigate the effects of mitomycin C (MMC) on the number of keratocytes and the proliferation of fibroblasts after photorefractive keratectomy (PRK) and exposure to ultraviolet B (UV-B) irradiation. METHODS:The right eyes of New Zealand White rabbits in Groups 1, 2, and 3 (n = 18 each) underwent PRK to co...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.04-0070

    authors: Kim TI,Pak JH,Lee SY,Tchah H

    更新日期:2004-09-01 00:00:00

  • Contrast evoked potentials in strabismic and anisometropic amblyopia.

    abstract::Steady-state visual evoked potentials were elicited by the appearance/disappearance of sinusoidal gratings of varying spatial frequency for both eyes of amblyopic subjects. The amblyopic eyes showed reduced responses and a phase shift relative to the nonamblyopic eyes across a wide range of spatial frequencies. Both t...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:

    authors: Levi DM,Harwerth RS

    更新日期:1978-06-01 00:00:00

  • Regional microvascular anatomy of the rabbit ciliary body.

    abstract::Vascular luminal castings of rabbit eyes were microdissected and studied with the scanning electron microscope to delineate the anatomy of the ciliary body microvasculature. We found regional microvascular differences corresponding to well known gross topographical and ultrastructural differences that may indicate reg...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:

    authors: Morrison JC,DeFrank MP,Van Buskirk EM

    更新日期:1987-08-01 00:00:00

  • A mutant connexin50 with enhanced hemichannel function leads to cell death.

    abstract:PURPOSE:To determine the consequences of expression of a novel connexin50 (CX50) mutant identified in a child with congenital total cataracts. METHODS:The GJA8 gene was directly sequenced. Formation of functional channels was assessed by the two-microelectrode voltage-clamp METHOD:Connexin protein levels and distribu...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.09-3759

    authors: Minogue PJ,Tong JJ,Arora A,Russell-Eggitt I,Hunt DM,Moore AT,Ebihara L,Beyer EC,Berthoud VM

    更新日期:2009-12-01 00:00:00

  • Increase in axial length of the macaque monkey eye after corneal opacification.

    abstract::The cornea of one eye was opacified in two young macaque monkeys by multiple stromal injections of a suspension of polystyrene particles (latex). Ultrasound measurements showed that the eye with opaque cornea grew at a faster rate, so that after 1 year it was more than 1 mm longer than the normal eye. This difference ...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:

    authors: Wiesel TN,Raviola E

    更新日期:1979-12-01 00:00:00

  • Sigma-1 Receptor Regulates Mitochondrial Function in Glucose- and Oxygen-Deprived Retinal Ganglion Cells.

    abstract:Purpose:Understanding the role of mitochondria in retinal ganglion cells (RGCs) is relevant to human disease as studies have shown mitochondrial abnormalities in primary open-angle glaucoma patients. This study seeks to determine the effects of the sigma-1 receptor (σ-1r) and its agonists on mitochondrial function in o...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.16-19199

    authors: Ellis DZ,Li L,Park Y,He S,Mueller B,Yorio T

    更新日期:2017-05-01 00:00:00

  • Retinal vascular caliber, iris color, and age-related macular degeneration in the Irish Nun Eye Study.

    abstract:PURPOSE:To evaluate the relationship between retinal vascular caliber (RVC), iris color, and age-related macular degeneration (AMD) in elderly Irish nuns. METHODS:Data from 1233 participants in the cross-sectional observational Irish Nun Eye Study were assessed from digital photographs with a standardized protocol usi...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章,多中心研究

    doi:10.1167/iovs.14-15523

    authors: McGowan A,Silvestri G,Moore E,Silvestri V,Patterson CC,Maxwell AP,McKay GJ

    更新日期:2014-12-18 00:00:00

  • Visual dysfunction between migraine events.

    abstract:PURPOSE:To evaluate interictal visual dysfunction in persons with migraine in terms of spatiotemporal selectivity and location within the visual pathways. METHODS:The vision of a group of 15 persons who had experienced migraine with aura was compared with that of 15 normal age-matched control subjects. A range of thre...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:

    authors: McKendrick AM,Vingrys AJ,Badcock DR,Heywood JT

    更新日期:2001-03-01 00:00:00

  • Lipid Emulsion-Based OCT Angiography for Ex Vivo Imaging of the Aqueous Outflow Tract.

    abstract:Purpose:Contrast agents applicable for optical coherence tomography (OCT) imaging are rare. The intrascleral aqueous drainage system would be a potential application for a contrast agent, because the aqueous veins are of small diameter and located deep inside the highly scattering sclera. We tested lipid emulsions (LEs...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.18-25223

    authors: Gottschalk HM,Wecker T,Khattab MH,Fischer CV,Callizo J,Rehfeldt F,Lubjuhn R,Russmann C,Hoerauf H,van Oterendorp C

    更新日期:2019-01-02 00:00:00

  • Reduced photoreceptor damage after photodynamic therapy through blockade of nitric oxide synthase in a model of choroidal neovascularization.

    abstract:PURPOSE:To investigate the role of nitric oxide synthase (NOS) in photoreceptor degeneration associated with photodynamic therapy (PDT) in a laser-induced model of choroidal neovascularization (CNV). METHODS:PDT was performed in monkey and Brown Norway rats with laser-induced CNV. L-NAME, a NOS inhibitor, or saline wa...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.06-0979

    authors: She H,Nakazawa T,Matsubara A,Hisatomi T,Young TA,Michaud N,Connolly E,Hafezi-Moghadam A,Gragoudas ES,Miller JW

    更新日期:2007-05-01 00:00:00

  • Iron induced oxidative damage as a potential factor in age-related macular degeneration: the Cogan Lecture.

    abstract::Iron is a potent generator of oxidative damage whose levels increase with age, potentially exacerbating age-related diseases. Several lines of evidence suggest that iron accumulation may be a factor in age-related macular degeneration (AMD). AMD retinas have more iron within the photoreceptors, RPE, and drusen than do...

    journal_title:Investigative ophthalmology & visual science

    pub_type:

    doi:10.1167/iovs.06-0568

    authors: Dunaief JL

    更新日期:2006-11-01 00:00:00