Abstract:
PURPOSE:To investigate the role of WDR36 and P53 sequence variations in POAG susceptibility. METHODS:The authors performed a case-control genetic association study in 268 unrelated Spanish patients (POAG1) and 380 control subjects matched for sex, age, and ethnicity. WDR36 sequence variations were screened by either direct DNA sequencing or denaturing high-performance liquid chromatography. P53 polymorphisms p.R72P and c.97-147ins16bp were analyzed by single-nucleotide polymorphism (SNP) genotyping and PCR, respectively. Positive SNP and haplotype associations were reanalyzed in a second sample of 211 patients and in combined cases (n = 479). RESULTS:The authors identified almost 50 WDR36 sequence variations, of which approximately two-thirds were rare and one-third were polymorphisms. Approximately half the variants were novel. Eight patients (2.9%) carried rare mutations that were not identified in the control group (P = 0.001). Six Tag SNPs were expected to be structured in three common haplotypes. Haplotype H2 was consistently associated with the disease (P = 0.0024 in combined cases). According to a dominant model, genotypes containing allele P of the P53 p.R72P SNP slightly increased glaucoma risk. Glaucoma susceptibility associated with different WDR36 genotypes also increased significantly in combination with the P53 RP risk genotype, indicating the existence of a genetic interaction. For instance, the OR of the H2 diplotype estimated for POAG1 and combined cases rose approximately 1.6 times in the two-locus genotype H2/RP. CONCLUSIONS:Rare WDR36 variants and the P53 p.R72P polymorphism behaved as moderate glaucoma risk factors in Spanish patients. The authors provide evidence for a genetic interaction between WDR36 and P53 variants in POAG susceptibility, although this finding must be confirmed in other populations.
journal_name
Invest Ophthalmol Vis Scijournal_title
Investigative ophthalmology & visual scienceauthors
Blanco-Marchite C,Sánchez-Sánchez F,López-Garrido MP,Iñigez-de-Onzoño M,López-Martínez F,López-Sánchez E,Alvarez L,Rodríguez-Calvo PP,Méndez-Hernández C,Fernández-Vega L,García-Sánchez J,Coca-Prados M,García-Feijoo J,Escribanodoi
10.1167/iovs.11-7489subject
Has Abstractpub_date
2011-10-31 00:00:00pages
8467-78issue
11eissn
0146-0404issn
1552-5783pii
iovs.11-7489journal_volume
52pub_type
杂志文章abstract:PURPOSE:To search for proprioceptive nerve terminals in human ciliary muscle. METHODS:In 48 human donor eyes, histologic and ultrathin sections cut in different planes and wholemounts of the ciliary muscle were studied. Immunohistochemical staining with antibodies against pan-neuronal antigens and antigens reported as...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.09-3783
更新日期:2009-12-01 00:00:00
abstract:PURPOSE:Regulatory CD4+ T cells (T regs) arise in the spleens of mice with anterior chamber-associated immune deviation (ACAID), an eye-derived tolerance evoked by injection of antigen into the ocular anterior chamber (AC). The current study was conducted to investigate the possibility that these T regs express CD25 an...
journal_title:Investigative ophthalmology & visual science
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doi:10.1167/iovs.05-0110
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1999-10-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
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更新日期:2011-08-05 00:00:00
abstract:PURPOSE:FOXC1 mutations result in Axenfeld-Rieger syndrome, a disorder characterized by a broad spectrum of malformations of the anterior segment of the eye and an elevated risk for glaucoma. A novel FOXC1 W152G mutation was identified in a patient with aniridia. Molecular analysis was conducted to determine the functi...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.08-3032
更新日期:2009-08-01 00:00:00
abstract::Cell cultures derived from trabecular meshworks of human and bovine eyes and from bovine vascular endothelia were incubated at 37 degrees C for 1 hr with ethacrynic acid (ECA, 0.1-0.5 mmol/l) dissolved in culture medium. At 2 hr after the initial exposure, ECA at concentrations up to 0.4 mmol/l induced a reversible al...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1992-08-01 00:00:00
abstract:PURPOSE:Cornea confocal microscopy is emerging as a clinical tool to evaluate the development and progression of diabetic neuropathy. The purpose of these studies was to characterize the early changes in corneal sensitivity and innervation in a rat model of type 1 diabetes in relation to standard peripheral neuropathy ...
journal_title:Investigative ophthalmology & visual science
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doi:10.1167/iovs.12-10826
更新日期:2012-12-07 00:00:00
abstract:PURPOSE:To determine if lens epithelial lines can be established from cryopreserved whole rabbit lenses and from cryopreserved capsule-epithelial preparations (CEPs). METHODS:Lenses or freshly isolated CEPs were cryopreserved and subsequently thawed. Thawed whole lenses were cultured for 48 hours in growth medium and ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1995-02-01 00:00:00
abstract:PURPOSE:To investigate effects of aging on endothelial nitric oxide synthase (eNOS) expression and signaling in angular aqueous plexus (AAP) (functional equivalent to human Schlemm's canal) cells subjected to shear stress. METHODS:The AAP cells were isolated differentially from porcine outflow tissues using puromycin ...
journal_title:Investigative ophthalmology & visual science
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journal_title:Investigative ophthalmology & visual science
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doi:10.1167/iovs.16-19691
更新日期:2016-10-01 00:00:00
abstract::The impact of aging on cell loss in the human retina was examined in foveal and temporal equatorial regions in eyes from 35 donors with ages spanning a 78-yr period from the second to the ninth decade of life. Equatorial cones and retinal pigment epithelial cells (RPE) decreased at uniform rates from the second to the...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1992-01-01 00:00:00
abstract:PURPOSE:To visualize changes in deep optic nerve head (ONH) structures following glaucoma surgery using (3-dimensional [3D]) swept-source optical coherence tomography (SS-OCT) and to determine the clinical and structural factors associated with postoperative lamina cribrosa (LC) and prelaminar neural tissue (PLT) chang...
journal_title:Investigative ophthalmology & visual science
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doi:10.1167/iovs.13-11897
更新日期:2014-01-23 00:00:00
abstract::Purpose. To use optical coherence tomography (OCT) to evaluate the effect of punctal occlusion on tear meniscus volume in dry eye patients. Methods. Occlusion of both upper and lower puncta with collagen plugs was performed on one eye each in 20 dry eye patients and 20 normal subjects. The upper and lower tear menisci...
journal_title:Investigative ophthalmology & visual science
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doi:10.1167/iovs.09-4349
更新日期:2010-04-01 00:00:00
abstract:PURPOSE:Evidence suggests that capillary degeneration in early diabetic retinopathy results from chronic inflammation, and leukotrienes have been implicated in this process. The authors investigated the cellular sources of leukotriene biosynthesis in diabetic retinas and the effects of hyperglycemia on leukotriene prod...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.09-3557
更新日期:2010-03-01 00:00:00
abstract:PURPOSE:To study relationships between glaucoma-sensitive components identified with frequency-domain analysis of global-flash multifocal electroretinogram (mfERG), regional retinal nerve fiber layer thickness (RNFLT), and local visual field sensitivity (VS). METHODS:Eleven macaque monkeys, including four controls and...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.10-6667
更新日期:2011-06-01 00:00:00
abstract:Purpose:To determine age-related alterations in the retinal tissue perfusion (RTP) and volumetric vessel density (VVD) in healthy subjects. Methods:Total 148 healthy subjects (age 18 to 83 years) were enrolled and divided into four groups (G1, <35 years; G2, 35 ∼ 49 years; G3, 50 ∼ 64 years; and G4, ≥65 years). The RT...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.18-25864
更新日期:2019-02-01 00:00:00
abstract:PURPOSE:Research to restore some degree of vision to patients suffering from retinal degeneration is becoming increasingly more promising. Several groups have chosen electrical stimulation of the remaining network of a degenerate retina as a means to generate discrete light percepts (phosphenes). Approaches vary signif...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
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更新日期:2013-06-21 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.09-4129
更新日期:2010-11-01 00:00:00
abstract:PURPOSE:The fibrotic lens disorder posterior capsule opacification (PCO) develops in millions of patients following cataract surgery. PCO characteristics are extensive extracellular matrix (ECM) production and contraction of the posterior lens capsule, resulting in light-scattering ECM modification (wrinkling). The pro...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.12-9457
更新日期:2012-06-26 00:00:00
abstract:PURPOSE:Strabismus is a common eye disorder with a prevalence of 1% to 4%. Comitant strabismus accounts for approximately 75% of all strabismus, yet more is known about the less common incomitant disorders. Comitant strabismus is at least partly inherited, but only one recessive genetic susceptibility locus, on chromos...
journal_title:Investigative ophthalmology & visual science
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doi:10.1167/iovs.07-1631
更新日期:2009-07-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1998-10-01 00:00:00
abstract:PURPOSE:To describe the variation in ocular biometry in adult Chinese individuals in Singapore. METHODS:This study was a population-based, cross-sectional survey of adult Chinese persons aged 40 to 81 years residing in Tanjong Pagar district, Singapore. Axial ocular dimensions, including axial length (AL), anterior ch...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:2001-01-01 00:00:00
abstract:PURPOSE:Mutations in the genes that control cell proliferation in cutaneous melanoma are generally uncommon in uveal melanoma. Despite the absence of known activating mutations, the RAF-MEK-ERK, or mitogen-activated protein kinase (MAPK), pathway is usually activated in uveal melanoma. An assay with increased potential...
journal_title:Investigative ophthalmology & visual science
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更新日期:2008-01-01 00:00:00
abstract:PURPOSE:To determine associations between retinopathy status and detailed serum lipoprotein subclass profiles in the Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications Study (DCCT/EDIC) cohort. METHODS:Persons with type 1 diabetes (440 women, 548 men) from the DCCT/EDIC c...
journal_title:Investigative ophthalmology & visual science
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doi:10.1167/iovs.02-0648
更新日期:2004-03-01 00:00:00
abstract:PURPOSE:The goals of this study were to evaluate the safety of office-based vitreous sampling, and determine the utility of these samples with multiplex cytokine analysis. METHODS:Vitreous samples were collected from office-based needle aspiration and the rate of adverse events during follow-up was reviewed. The vitre...
journal_title:Investigative ophthalmology & visual science
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更新日期:2016-06-01 00:00:00
abstract:PURPOSE:The main purpose of this study was to develop a cell culture model of immortalized epithelium from the human cornea for drug permeability testing. METHODS:Immortalized human corneal epithelial (HCE) cells were grown on filters, with various filter materials and coating procedures. In the optimal case, HCE cell...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:2001-11-01 00:00:00
abstract::Vitrectomy has been shown to halt diabetic retinal neovascularization, but the mechanism of this process is unknown. We propose that vitrectomy improves the oxygen supply to ischemic inner retina by way of fluid currents in the vitreous cavity. In order to test this hypothesis, we induced branch retinal vein occlusion...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1990-02-01 00:00:00
abstract:PURPOSE:To learn whether locally expressed and systemic mediators might modulate the cholinergically induced transepithelial Cl(-) fluxes that underlie lacrimal fluid production. METHODS:Reconstituted epithelial monolayers were exposed to a submaximal dose of the muscarinic agonist, carbachol (CCh), or to one of sever...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.12-10202
更新日期:2013-04-26 00:00:00
abstract:PURPOSE:To compare local functional measures, the multifocal electroretinogram (mfERG) and visual field sensitivity, with a local structural measure, spectral domain (SD) optical coherence tomography (OCT), of receptor damage in patients with retinitis pigmentosa (RP). METHODS:MfERGs, visual fields, and SD-OCT scans w...
journal_title:Investigative ophthalmology & visual science
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doi:10.1167/iovs.11-8410
更新日期:2012-02-21 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.17-21593
更新日期:2017-06-01 00:00:00