Abstract:
Purpose:This study evaluates the associations of haplotype-tagging single nucleotide polymorphisms (SNPs) in the PARL-ABCC5-HTR3D-HTR3C region with primary angle closure glaucoma (PACG), with a view to identify the responsible SNP in this region. Methods:Thirty SNPs from the PARL-ABCC5-HTR3D-HTR3C region were genotyped in a Hong Kong Chinese cohort of 422 PACG patients and 400 control subjects, using TaqMan SNP genotyping assays. Single marker and haplotype-based association analyses were performed. Results:Two synonymous ABCC5 SNPs, namely rs939336 (p.Cys594=; P = 0.013; odds ratio [OR] = 1.46; 95% confidence interval [CI], 1.08 to 1.97) and rs1132776 (p.Ala395=; P = 0.009; OR = 1.47; 95% CI: 1.10 to 1.95), were associated with PACG. Mild associations were detected for ABCC5 rs9838667 (P = 0.024) and HTR3D rs12493550 (P = 0.035). Conditional analysis revealed that no SNPs remained significant after adjusting for other SNPs, suggesting none of these tagging SNPs is fully responsible for the association in this region. In subgroup analysis, ABCC5 SNPs rs939336, rs1132776, and rs983667 and HTR3D rs12493550 were associated only with the chronic form of PACG. However, these associations could not withstand the correction for multiple testing. Conclusions:These findings enrich the allelic spectrum of ABCC5 in PACG. We identified no tagging SNP responsible for the association of the whole region. Further deep sequencing analysis of this region should be warranted to uncover whether there is still disease associated variant in this region.
journal_name
Invest Ophthalmol Vis Scijournal_title
Investigative ophthalmology & visual scienceauthors
Tang FY,Ma L,Tam POS,Pang CP,Tham CC,Chen LJdoi
10.1167/iovs.17-22304subject
Has Abstractpub_date
2017-08-01 00:00:00pages
4384–4389issue
10eissn
0146-0404issn
1552-5783pii
2649246journal_volume
58pub_type
杂志文章abstract:PURPOSE:To establish the regulatory roles that pericytes have in coordinating retinal endothelial cell (EC) growth and angiogenic potential. METHODS:Pericytes were derived from donor diabetic (DHuRP) or normal (NHuRP) human retinae, and characterized using vascular markers, coculture, contraction, morphogenesis, and p...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.14-13945
更新日期:2015-06-01 00:00:00
abstract:PURPOSE:Glaucoma is an optic neuropathy caused by the chronic and progressive death of retinal ganglion cells (RGCs), resulting in irreversible blindness. Ocular hypertension is a major risk factor, but RGC death often continues after ocular hypertension is normalized, and can take place with normal tension. Continuous...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.10-6691
更新日期:2011-07-15 00:00:00
abstract:PURPOSE:To investigate the alterations in gene expression when human retinal pigment epithelial (RPE) cells in culture are treated with vitreous as a model for the changes that occur in proliferative vitreoretinopathy. METHODS:Human RPE cells were cultured with or without human vitreous or collagen. RNA was extracted ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.02-0528
更新日期:2003-04-01 00:00:00
abstract:PURPOSE:The purpose of the study was to assess vision-related quality of life (QoL) in patients with visual field loss (VFL) after lesions of the postchiasmatic visual pathway and to investigate the influence of VFL and reduced visual acuity (VA) on vision-related QoL. METHODS:In 312 patients with postchiasmatic damag...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.08-2519
更新日期:2009-06-01 00:00:00
abstract:PURPOSE:We described the optical coherence tomography (OCT) features of diabetic macular ischemia (DMI), and correlate these findings with visual acuity (VA). METHODS:Clinical and imaging data were collected from 100 patients with type 2 diabetes. Qualitative grading of DMI severity was determined according to criteri...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.13-12677
更新日期:2014-01-21 00:00:00
abstract:PURPOSE:To investigate the expression pattern of claudins in human corneal endothelium, and to evaluate the functional role of the claudin-10b subtype. METHODS:Corneal endothelium with Descemet's membrane and the corneal epithelium were stripped from donor human corneal stroma. Reverse transcription-polymerase chain r...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.13-12022
更新日期:2013-11-08 00:00:00
abstract:PURPOSE:Previous work from the authors' laboratory has shown that Hsp27 is specifically upregulated after retinal ischemic preconditioning (IPC), and this upregulation acts as a key cytoprotective factor in preventing retinal ischemic damage. The regulatory mechanisms involved in the upregulation of Hsp27 after IPC are...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.04-0043
更新日期:2005-03-01 00:00:00
abstract:PURPOSE:This study was performed to investigate motion perception in patients with glaucoma. METHODS:A random dot motion test was used to measure three aspects of central motion perception: minimum displacement threshold (Dmin), maximum displacement threshold (Dmax), and coherence threshold (signal to noise). Motion p...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1993-12-01 00:00:00
abstract:Purpose:Conjunctival squamous cell carcinoma (SCC), a type of ocular surface neoplasia, is primarily treated by surgical resection and topical immuno- or chemotherapy. Metastatic disease may be treated with systemic chemo- or immunotherapy, albeit with variable response. The purpose of this study was to determine wheth...
journal_title:Investigative ophthalmology & visual science
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doi:10.1167/iovs.19-26894
更新日期:2019-05-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:2002-04-01 00:00:00
abstract::In order to investigate the effect of traction of the vasculature on induction or acceleration of neovascularization, the chorioallantoic membranes (CAMs) of the developing chick embryo were placed under tension with 10-0 nylon sutures and subsequently examined histologically. In the initial phase of the study, CAMs f...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1989-04-01 00:00:00
abstract::Upper eyelid movements were recorded in nine human subjects by mounting a miniature coil of wire directly on the eyelid and subjecting the search coil to a vertically directed alternating magnetic field. The metrics of blinks and lid movements accompanying saccades were described by "main sequence" relationships, link...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1991-12-01 00:00:00
abstract::The activities of Mg(2+)-dependent and Na(+)-K(+)-stimulated ATPase in homogenates of rat retina were measured in the presence of increasing concentrations of oxidized glutathione (GSSG). The Mg(2+)-ATPase was not inhibited by GSSG at any of the concentrations tested. The Na(+)-K(+)-stimulated ATPase was not inhibited...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1991-09-01 00:00:00
abstract::Substance P (SP)--like immunoreactivity has been localized to distinct retinal cell populations in the primate Macaca nemestrina by means of immunohistochemical techniques with a well-characterized monoclonal antiserum directed to SP. The specificity of the immunoreactive staining was established by absorption of the ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1982-08-01 00:00:00
abstract::An animal model of chronic cicatrizing trachoma has been produced by repeated ocular inoculation with Chlamydia trachomatis serotype E, a genitally transmitted strain. We have now produced a chronic follicular conjunctivitis on cynomolgus monkeys by repeated inoculation with C. trachomatis serotype A, which has been i...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1982-10-01 00:00:00
abstract:Purpose:To analyze the anti-inflammatory and antioxidative effects of Camellia japonica (CJ) on human corneal epithelial (HCE) cells and its therapeutic effects in a mouse model of experimental dry eye (EDE). Methods:Camellia japonica extracts of varying concentrations (0.001%, 0.01%, and 0.1%) were used to treat HCE ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.16-20634
更新日期:2017-02-01 00:00:00
abstract:PURPOSE:To determine whether complement-derived SC5b-9, the soluble nonlytic-fluid phase of the membrane attack complex, can be generated in normal human corneas when they are injured with lipopolysaccharide (LPS), ribitol teichoic acid (RTA) immune complexes, acid, or alkali. METHODS:The experimental cornea of each d...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1996-07-01 00:00:00
abstract::Epidermal growth factor (EGF), which has been shown to stimulate epidermal proliferation and keratinization and to induce regeneration of rabbit corneal epithelium, was studied for its immunogenic potential in rabbits. Mouse-derived EGF was administered topically, subconjunctivally, intrastromally, and systemically. S...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1981-01-01 00:00:00
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
更新日期:2003-06-01 00:00:00
abstract:PURPOSE:Alcohol produces changes in the electro-oculogram (EOG) similar to those caused by light, but indirect evidence indicates that alcohol directly affects the retinal pigment epithelium (RPE). An investigation of the alcohol-induced increase (termed the alcohol rise in this study) in patients with disease of the p...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:2000-08-01 00:00:00
abstract:PURPOSE:Equine recurrent uveitis (ERU) is an incurable disease affecting the inner eye that leads to blindness, through activated T cells that pass the blood-retinal barrier and destroy the retina. Serum markers are a desirable choice for monitoring development of disease, as serum is easy accessible and the markers co...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.09-4094
更新日期:2010-01-01 00:00:00
abstract:Purpose:To validate the Liverpool Uveal Melanoma Prognosticator Online (LUMPO) in a cohort of patients treated at the University of California-San Francisco (UCSF). Methods:A retrospective chart review was performed of 390 patients treated between 2002 and 2007 for choroidal melanoma at UCSF. Similar patients (n = 117...
journal_title:Investigative ophthalmology & visual science
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更新日期:2016-11-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
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更新日期:2014-12-02 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
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更新日期:2007-11-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.10-7096
更新日期:2011-07-13 00:00:00
abstract:PURPOSE:To explore the role of autocrine interleukin-1 alpha (IL-1 alpha) as a central regulator of the repair phenotype in corneal fibroblasts. METHODS:Disruption of the actin cytoskeleton with cytochalasin B (CB), which mimics changes in shape that occur in repair tissues, was used to stimulate repair gene expressio...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1997-06-01 00:00:00
abstract:PURPOSE:Modalities for inhibiting neovascularization may be one avenue to the development of effective therapies for retinopathy. The effect of squalamine, an antiangiogenic amino sterol, on oxygen-induced retinopathy (OIR) was assessed in a mouse model. METHODS:OIR was induced in C57BL6 mice by a 5-day exposure to 75...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:2000-05-01 00:00:00
abstract:PURPOSE:Migration of Müller glial cells is enhanced in proliferative retinopathies, but the mechanisms involved are ill defined. Sphingosine-1-phosphate (S1P) is a bioactive sphingolipid synthesized by sphingosine kinase (SphK), which promotes proliferation, migration, and inflammation, acting as an intracellular media...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
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更新日期:2015-09-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1990-07-01 00:00:00
abstract::Ultrastructural cytochemistry was used to localize a previously undescribed retinal enzyme activity, ie, "manganese-dependent pyrimidine 5'-nucleotidase" (MDPNase) activity in retinas from rats raised in cyclic light and killed at various times in the lighting cycle. In retinas fixed during the last 3 hr of darkness, ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1987-01-01 00:00:00