Abstract:
PURPOSE:High intraocular pressure (IOP) is a major risk factor for glaucoma, one of the leading causes of blindness worldwide. Because it has been demonstrated that African populations are at increased risk for glaucoma, the authors investigated the genetic basis of IOP in a sample of West Africans with type 2 diabetes (T2D) from Ghana and Nigeria. METHODS:Genomewide linkage analysis was conducted for loci linked to IOP (measured by applanation tonometry) in 244 affected sibling pairs with T2D using 372 autosomal short-tandem repeat markers at an average spacing of 9 cM. RESULTS:Multipoint variance components linkage analyses revealed suggestive linkage on chromosome 5 (5q22) with a logarithm of odds (LOD) score of 2.50 (nominal P = 0.0003; empiric P = 0.0004) and on chromosome 14 (14q22) with an LOD score of 2.95 (nominal P = 0.0001; empiric P = 0.0003). Fine mapping at a marker density of 2 cM in the 5q region confirmed the linkage signal, with an increase in peak LOD score to 4.91. CONCLUSIONS:The strong signal on chromosome 5 lies in the region in which a novel gene, WDR36, in the GLC1G locus was recently identified as causative for adult-onset primary open-angle glaucoma and provides additional evidence that chromosome 5 contains susceptibility loci for glaucoma in multiple human populations. The evidence provided in this study is particularly important given the evolutionary history of these West African populations and the recent ancestral relationship to African Americans-a population with one of the highest rates of diabetes and associated complications (including glaucoma) in the world.
journal_name
Invest Ophthalmol Vis Scijournal_title
Investigative ophthalmology & visual scienceauthors
Rotimi CN,Chen G,Adeyemo AA,Jones LS,Agyenim-Boateng K,Eghan BA Jr,Zhou J,Doumatey A,Lashley K,Huang H,Fasanmade O,Akinsola FB,Ezepue F,Amoah A,Akafo S,Chen Y,Oli J,Johnson Tdoi
10.1167/iovs.05-1537subject
Has Abstractpub_date
2006-08-01 00:00:00pages
3262-7issue
8eissn
0146-0404issn
1552-5783pii
47/8/3262journal_volume
47pub_type
杂志文章abstract:PURPOSE:To relate the oxygen environment of the retina to photoreceptor stability, protection, and function in the P23H rat. METHODS:Heterozygote P23H-3 (Line 3) rats were studied. Photoreceptor death rates were assessed with the TUNEL technique for detection of fragmenting DNA, in a developmental series from postnata...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.03-0845
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abstract:PURPOSE:Vitreoretinal disorders are frequently characterized by increased vitreous levels of cellular mediators, including cytokines, chemokines, and growth factors. The study was conducted to investigate whether multiplex bead analysis could identify disease-specific profiles of these mediators in a variety of vitreor...
journal_title:Investigative ophthalmology & visual science
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abstract:PURPOSE:We investigated the hypothesis that cyclic adenosine monophosphate (cAMP) modifies the basolateral membrane chloride conductance of chick retinal pigment epithelium (RPE). METHODS:Placing freshly dissected chick retina-RPE-choroid tissues in a perfusion chamber that allows separate perfusion of its retinal and...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1994-02-01 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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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:1980-11-01 00:00:00
abstract:PURPOSE:Despite the high metabolic demands of the neural retina, its detachment from the retinal pigment epithelium does not lead to immediate death for most of the cells. This study was undertaken to test the hypothesis that intrinsic protective mechanisms are activated in the neural retina during early stages of reti...
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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更新日期:2014-04-15 00:00:00
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更新日期:2011-06-23 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1989-03-01 00:00:00
abstract::A disruption of the blood-aqueous barrier in rabbit eyes was elicited by use of topical prostaglandin E2(PGE2), infrared irradiation of the iris, or by subcutaneous alpha-melanocyte-stimulating hormone (alpha-MSH). The aqueous flare provoked was measured quantitatively with a photoelectric instrument. The effect of th...
journal_title:Investigative ophthalmology & visual science
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doi:
更新日期:1981-06-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
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doi:
更新日期:1989-05-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
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doi:
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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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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
abstract::An analysis of size, shape, vacuole and cell counts of Schlemm's canal was undertaken in 20 human eyes that had undergone conventional immersion fixation. A reduction in vacuole count with age was shown to be associated with a decreased canal cell count. The decrease in cell count with age was closely linked to an age...
journal_title:Investigative ophthalmology & visual science
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doi:
更新日期:1990-04-01 00:00:00
abstract:PURPOSE:To investigate the impact of diabetic macular ischemia (DMI) on visual acuity (VA), through the analysis of novel fluorescein angiography (FA) parameters. METHODS:Data were retrospectively collected over a 6-month period. DMI severity was graded using Early Treatment Diabetic Retinopathy Study (ETDRS) protocol...
journal_title:Investigative ophthalmology & visual science
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更新日期:2013-03-28 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1990-12-01 00:00:00
abstract:PURPOSE:To compare the effectiveness of upper punctal occlusion versus that of lower punctal occlusion in dry eye patients. METHODS:One eye's upper punctum and the contralateral eye's lower punctum were occluded with collagen plugs in 20 dry eye patients. The same procedure was performed in 20 normal subjects. The upp...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章,随机对照试验
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更新日期:2010-11-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
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更新日期:2015-03-03 00:00:00
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journal_title:Investigative ophthalmology & visual science
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更新日期:2020-08-03 00:00:00