Abstract：
Purpose:To determine whether mitochondrial DNA haplogroups or rare variants associate with primary open-angle glaucoma in subjects of European descent. Methods:A case-control comparison of age- and sex-matched cohorts of 90 primary open-angle glaucoma patients and 95 population controls. Full mitochondrial DNA sequences from peripheral blood were generated by next-generation sequencing and compared to the revised Cambridge Reference Sequence to define mitochondrial haplogroups and variants. Results:Most subjects were of the major European haplogroups H, J, K, U, and T. Logistic regression analysis showed haplogroup U to be significantly underrepresented in male primary open-angle glaucoma subjects (odds ratio 0.25; 95% confidence interval [CI] 0.09-0.67; P = 0.007; Bonferroni multiple testing P = 0.022). Variants in the mitochondrial DNA gene MT-ND2 were overrepresented in the control group (P = 0.005; Bonferroni multiple testing correction P = 0.015). Conclusions:Mitochondrial DNA ancestral lineages modulate the risk for primary open-angle glaucoma in populations of European descent. Haplogroup U and rare variants in the mitochondrial DNA-encoded MT-ND2 gene may be protective against primary open-angle glaucoma. Larger studies are warranted to explore haplogroup associations with disease risk in different ethnic groups and define biomarkers of primary open-angle glaucoma endophenotypes to target therapeutic strategies.
journal_name
Invest Ophthalmol Vis Scijournal_title
Investigative ophthalmology & visual scienceauthors
Singh LN,Crowston JG,Lopez Sanchez MIG,Van Bergen NJ,Kearns LS,Hewitt AW,Yazar S,Mackey DA,Wallace DC,Trounce IAdoi
10.1167/iovs.18-25085subject
Has Abstractpub_date
2018-09-04 00:00:00pages
4598-4602issue
11eissn
0146-0404issn
1552-5783pii
2702939journal_volume
59pub_type
杂志文章abstract：PURPOSE:Dietary supplementation with vitamin A is sometimes prescribed as a treatment for retinitis pigmentosa, a group of inherited retinal degenerations that cause progressive blindness. Loss-of-function mutations in the ABCA4 gene are responsible for a subset of recessive retinitis pigmentosa. Other mutant alleles o...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.07-1470
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abstract：Purpose:To compare the changes in human tear proteome and clinical effects following topical cyclosporine A (CsA) 0.05% or diquafosol tetrasodium (DQS) 3% treatment of dry eye disease (DED), and to identify biomarkers for determining disease severity and treatment effectiveness in DED. Methods:A total of 18 patients w...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章,多中心研究,随机对照试验
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更新日期：2019-12-02 00:00:00
abstract：PURPOSE:Retinal pigment epithelium (RPE) transplantation is a promising strategy for the treatment of dry age-related macular degeneration (AMD). However, previous attempts at subretinal RPE cell transplantation have experienced limited success due to poor adhesion, organization, and function on aged or diseased Bruch'...
journal_title：Investigative ophthalmology & visual science
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doi：10.1167/iovs.13-12833
更新日期：2014-03-25 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:To examine the behavior of fibroblasts and retinal pigment epithelial cells after attachment to the retinal surface in vitro to elucidate the pathobiology of the early stages of epiretinal membrane formation. METHODS:Human retinal pigment epithelial (HRPE) cells and bovine Tenon's capsule fibroblasts (BTFs) we...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1997-09-01 00:00:00
abstract：PURPOSE:To investigate the distribution of inflammatory mediators such as interleukin (IL)-1beta and tumor necrosis factor (TNF)-alpha and angiogenic cytokines such as vascular endothelial growth factor (VEGF) and to identify their cellular source in surgically excised choroidal neovascular membranes (CNVMs) of various...
journal_title：Investigative ophthalmology & visual science
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doi：
更新日期：1999-08-01 00:00:00
abstract：PURPOSE:BM88 is a cell-cycle exit and neuronal differentiation protein that has been used as a marker of surviving retinal ganglion cells (RGCs) after optic nerve injury. Thy1.1 has also been used as a marker for RGC loss, but after optic nerve crush (ONC) a decrease in Thy1.1 expression precedes the loss of RGCs. The ...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.13-12986
更新日期：2014-03-28 00:00:00
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
更新日期：2010-06-01 00:00:00
abstract：:This study was undertaken to observe the effect on the differential light sensitivity in glaucoma suspects produced by a long-term reduction in intraocular pressure (IOP) with timolol maleate. The results are taken from an ongoing 6 year follow-up study of glaucoma suspects randomly selected for treatment and nontreat...
journal_title：Investigative ophthalmology & visual science
pub_type： 临床试验,杂志文章,随机对照试验
doi：
更新日期：1988-10-01 00:00:00
abstract：Purpose:To discover novel therapies that lower IOP by increasing aqueous humor outflow facility, ex vivo ocular perfusion systems provide a valuable tool. However, currently available designs are limited by their throughput. Here we report the development of a compact, scalable perfusion system with improved throughput...
journal_title：Investigative ophthalmology & visual science
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journal_title：Investigative ophthalmology & visual science
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doi：10.1167/iovs.16-20659
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abstract：PURPOSE:Recent studies have suggested the hypothesis that quench-assisted 1/T1 magnetic resonance imaging (MRI) measures free radical production with laminar resolution in vivo without the need of a contrast agent. Here, we test this hypothesis further by examining the spatial and detection sensitivity of quench-assist...
journal_title：Investigative ophthalmology & visual science
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journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1995-04-01 00:00:00
abstract：PURPOSE:Transgenic mice were developed that express tetracycline-controlled transactivator 1 (tTA1) specifically in photoreceptor cells. In these mice the transcription of the gene of interest can be easily inactivated in the retina in a short time frame. METHODS:A construct was prepared containing tTA1 under control ...
journal_title：Investigative ophthalmology & visual science
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doi：10.1167/iovs.02-0340
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journal_title：Investigative ophthalmology & visual science
pub_type： 临床试验,杂志文章
doi：
更新日期：2000-09-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1984-10-01 00:00:00
abstract：PURPOSE:We characterized fluorescent bone marrow cells (YFP(+) BMCs) in the thy1-YFP mouse and determine if they promote trigeminal ganglion (TG) cell neurite growth. METHODS:Excimer laser annular keratectomy was performed in thy1-YFP mice, and corneas were imaged. BMCs were harvested from femur and tibia, and the exp...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.13-12237
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journal_title：Investigative ophthalmology & visual science
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doi：10.1167/iovs.15-18358
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journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1994-07-01 00:00:00
abstract：PURPOSE:To determine the usefulness of polytetrafluoroethylene/polylactide-co-glycolide (PTFE/PLGA) laminate containing dexamethasone in delayed adjustable strabismus surgery. METHODS:A prospective, masked-observer, controlled study was performed in rabbits. Fifty-two rabbit eyes were divided into three groups. After ...
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journal_title：Investigative ophthalmology & visual science
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journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1984-06-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
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journal_title：Investigative ophthalmology & visual science
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journal_title：Investigative ophthalmology & visual science
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doi：
更新日期：1981-01-01 00:00:00
abstract：PURPOSE:To determine the effects of silencing Toll-like receptor (TLR) 9 signaling in Pseudomonas aeruginosa keratitis. METHODS:Corneal TLR9 mRNA levels were tested by RT-PCR in C57BL/6 (B6, susceptible) and BALB/c (resistant) mice and compared. The response of B6 mice to CpG DNA, which binds TLR9, was tested after su...
journal_title：Investigative ophthalmology & visual science
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abstract：Purpose:The purpose of this review was to provide detailed insights into the pathophysiology of myofibroblast-mediated fibrosis (scarring or late haze) after corneal injury, surgery, or infection. Method:Literature review. Results:The epithelium and epithelial basement membrane (EBM) and/or endothelium and Descemet's...
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journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1988-12-01 00:00:00
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
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更新日期：2012-08-09 00:00:00
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journal_title：Investigative ophthalmology & visual science
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