Replication of a glaucoma candidate gene on 5q22.1 for intraocular pressure in mongolian populations: the GENDISCAN Project.

Abstract:

PURPOSE:Glaucoma is the second most frequent cause of visual impairment worldwide. Elevated intraocular pressure (IOP) causes glaucomatous optic nerve damage, especially in the primary open-angle glaucoma (POAG) subtype. As most previous studies on IOP genetics were analyses of glaucomatous families, a study of general pedigrees will provide additional information on genetic etiology. METHODS:This work was part of the GENDISCAN study (Gene Discovery for Complex Traits in Isolated Large Families of Asians of the Northeast), which recruited families from population isolates in Mongolia. IOP (obtained by a noncontact method), epidemiologic, and clinical information were collected from 1451 healthy individuals of 142 families. From these individuals, 390 genome-wide short tandem repeat markers were genotyped. Variance component-based linkage analysis was applied to pursue candidate loci explaining IOP variation. RESULTS:The mean IOP was 13.6 mm Hg in the men and 13.7 mm Hg in the women, inversely associated with aging (beta = -0.05; P

authors

Lee MK,Woo SJ,Kim JI,Cho SI,Kim H,Sung J,Seo JS,Kim DM

doi

10.1167/iovs.09-3979

subject

Has Abstract

pub_date

2010-03-01 00:00:00

pages

1335-40

issue

3

eissn

0146-0404

issn

1552-5783

pii

iovs.09-3979

journal_volume

51

pub_type

杂志文章
  • Sigma receptor 1 modulates endoplasmic reticulum stress in retinal neurons.

    abstract:PURPOSE:To investigate the mechanism of σ receptor 1 (σR1) neuroprotection in retinal neurons. METHODS:Oxidative stress, which is implicated in diabetic retinopathy, was induced in mouse primary ganglion cells (GCs) and RGC-5 cells, and the effect of the σR1 ligand (+)-pentazocine on pro- and anti-apoptotic and endopl...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.10-5731

    authors: Ha Y,Dun Y,Thangaraju M,Duplantier J,Dong Z,Liu K,Ganapathy V,Smith SB

    更新日期:2011-01-25 00:00:00

  • Elastin content of the scleral spur, trabecular mesh, and sclera.

    abstract::The scleral spur and trabecular mesh of the human eye contain approximately 5% elastic tissue. Elastic tissue forms less than 2% of the sclera. ...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:

    authors: Moses RA,Grodzki WJ Jr,Starcher BC,Galione MJ

    更新日期:1978-08-01 00:00:00

  • Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus.

    abstract:PURPOSE:Keratoconus is a progressive disorder of the cornea that can lead to severe visual impairment or blindness. Although several genomic regions have been linked to rare familial forms of keratoconus, no genes have yet been definitively identified for common forms of the disease. METHODS:Two genome-wide associatio...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.11-8261

    authors: Burdon KP,Macgregor S,Bykhovskaya Y,Javadiyan S,Li X,Laurie KJ,Muszynska D,Lindsay R,Lechner J,Haritunians T,Henders AK,Dash D,Siscovick D,Anand S,Aldave A,Coster DJ,Szczotka-Flynn L,Mills RA,Iyengar SK,Taylor KD,

    更新日期:2011-10-31 00:00:00

  • Noninvasive Assessment of Corneal Crosslinking With Phase-Decorrelation Optical Coherence Tomography.

    abstract:Purpose:There is strong evidence that abnormalities in corneal biomechanical play a causal role in corneal ectasias, such as keratoconus. Additionally, corneal crosslinking (CXL) treatment, which halts progression of keratoconus, directly appeals to corneal biomechanics. However, existing methods of corneal biomechanic...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.18-25535

    authors: Blackburn BJ,Gu S,Ford MR,de Stefano V,Jenkins MW,Dupps WJ Jr,Rollins AM

    更新日期:2019-01-02 00:00:00

  • Corneal resistance to shear force after UVA-riboflavin cross-linking.

    abstract:PURPOSE:We evaluated whether UVA-riboflavin collagen cross-linking (CXL) increases transverse stromal shear moduli ex vivo, whether the shear moduli are greater in the anterior compared to the posterior stroma, and whether the shear moduli are affected by CXL. METHODS:The resistance to unidirectional transverse shear ...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.12-10710

    authors: Søndergaard AP,Ivarsen A,Hjortdal J

    更新日期:2013-07-26 00:00:00

  • Dynamic patterns of histone lysine methylation in the developing retina.

    abstract:PURPOSE:Histone lysine methylation (HKM) is an important epigenetic mechanism that establishes cell-specific gene expression and functions in development. However, epigenetic control of retinal development is poorly understood. To study the roles of HKM in retinogenesis, the authors examined the dynamic changes of thre...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.09-4730

    authors: Rao RC,Tchedre KT,Malik MT,Coleman N,Fang Y,Marquez VE,Chen DF

    更新日期:2010-12-01 00:00:00

  • Nonoptical determinants of aniseikonia.

    abstract::Interocular differences in apparent size (aniseikonia) are typically associated with interocular differences in refractive error (anisometropia). Aniseikonia is generally thought to reflect disparities in retinal image size that often accompany anisometropia. This assumption was examined with seven highly anisometropi...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:

    authors: Bradley A,Rabin J,Freeman RD

    更新日期:1983-04-01 00:00:00

  • Depth-dependent forward light scattering by donor lenses.

    abstract:PURPOSE:To determine quantitatively forward light scattering in the human lens as a function of depth. To use this to explain the psychophysical result, verified earlier in vitro, showing total light scattering in the human lens to decrease with scattering angle according to an approximate power law (power -2). METHOD...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:

    authors: van den Berg TJ

    更新日期:1996-05-01 00:00:00

  • Binocular coordination during reading of blurred and nonblurred text.

    abstract:PURPOSE:Reading a text requires vergence angle adjustments, so that the images in the two eyes fall on corresponding retinal areas. Vergence adjustments bring the two retinal images into Panum's fusional area and therefore, small remaining errors or regulations do not lead to double vision. The present study evaluated ...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章,随机对照试验

    doi:10.1167/iovs.11-8237

    authors: Jainta S,Dehnert A,Heinrich SP,Jaschinski W

    更新日期:2011-12-09 00:00:00

  • Autophagy and Macropinocytosis: Keeping an Eye on the Corneal/Limbal Epithelia.

    abstract::Autophagy and macropinocytosis are processes that are vital for cellular homeostasis, and help cells respond to stress and take up large amounts of material, respectively. The limbal and corneal epithelia have the machinery necessary to carry out both processes; however, autophagy and macropinocytosis are relatively u...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章,评审

    doi:10.1167/iovs.16-21111

    authors: Peng H,Park JK,Lavker RM

    更新日期:2017-01-01 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

  • Regulation of choroidal blood flow during combined changes in intraocular pressure and arterial blood pressure.

    abstract:PURPOSE:To test the hypothesis that human choroidal blood flow (ChBF) may depend, not only on ocular perfusion pressure (OPP), but also on absolute mean arterial pressure (MAP) and intraocular pressure (IOP). METHODS:There were two study days in an open design. On the first day, OPP was varied by elevating IOP during ...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.07-0307

    authors: Polska E,Simader C,Weigert G,Doelemeyer A,Kolodjaschna J,Scharmann O,Schmetterer L

    更新日期:2007-08-01 00:00:00

  • Systemic counterregulatory response of placental growth factor levels to intravitreal aflibercept therapy.

    abstract:PURPOSE:Placental growth factor (PlGF) has been implicated as a contributor to resistance against anti-VEGF therapy. The purpose of the present study was to analyze the systemic levels of PlGF, VEGF-A, and VEGF-B in patients with neovascular age-related macular degeneration (AMD) after treatment with aflibercept, ranib...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章,随机对照试验

    doi:10.1167/iovs.15-16686

    authors: Zehetner C,Bechrakis NE,Stattin M,Kirchmair R,Ulmer H,Kralinger MT,Kieselbach GF

    更新日期:2015-05-01 00:00:00

  • Melatonin receptors in chick ocular tissues: implications for a role of melatonin in ocular growth regulation.

    abstract:PURPOSE:The influences of diurnal rhythms involving a variety of ocular parameters are implicated in the development of myopia. The purpose of this study was to determine the expression of the melatonin receptor subtype proteins in chick ocular tissues and to examine the role of the circadian signaling molecule melaton...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.05-0195

    authors: Rada JA,Wiechmann AF

    更新日期:2006-01-01 00:00:00

  • Spectrum of Variants in 389 Chinese Probands With Familial Exudative Vitreoretinopathy.

    abstract:Purpose:To identify potentially pathogenic variants (PPVs) in Chinese familial exudative vitreoretinopathy (FEVR) patients in FZD4, LRP5, NDP, TSPAN12, ZNF408, and KIF11 genes. Methods:Blood samples were collected from probands and their parent(s). Genomic DNA was analyzed by next-generation sequencing, and the sequen...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.17-23541

    authors: Li JK,Li Y,Zhang X,Chen CL,Rao YQ,Fei P,Zhang Q,Zhao P,Li J

    更新日期:2018-11-01 00:00:00

  • Association Between Osteoporosis and Age-Related Macular Degeneration: The Korea National Health and Nutrition Examination Survey.

    abstract:Purpose:Previous studies have reported a possible link between low bone mineral density and AMD. The aim of the present study was to investigate the association between osteoporosis and AMD in a South Korean cohort. Methods:This cross-sectional, nationwide study included 3496 women and 2789 men who had participated in...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.18-24059

    authors: Yoo TK,Kim SH,Kwak J,Kim HK,Rim TH

    更新日期:2018-03-20 00:00:00

  • A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.

    abstract:PURPOSE:To characterize the spectrum of mutations in the OPA1 gene in a large international panel of patients with autosomal dominant optic atrophy (adOA), to improve understanding of the range of functional deficits attributable to sequence variants in this gene, and to assess any genotype-phenotype correlations. MET...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章,多中心研究

    doi:

    authors: Thiselton DL,Alexander C,Taanman JW,Brooks S,Rosenberg T,Eiberg H,Andreasson S,Van Regemorter N,Munier FL,Moore AT,Bhattacharya SS,Votruba M

    更新日期:2002-06-01 00:00:00

  • Glaucoma-associated CYP1B1 mutations share similar haplotype backgrounds in POAG and PACG phenotypes.

    abstract:PURPOSE:To understand the involvement of the CYP1B1 gene in cases of primary open-angle (POAG) and primary angle-closure (PACG) glaucomas and obtain the haplotype background of these mutations. METHODS:The entire coding region of CYP1B1 was screened by resequencing in 224 unrelated cases of POAG (n = 134) and PACG (n ...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.07-0629

    authors: Chakrabarti S,Devi KR,Komatireddy S,Kaur K,Parikh RS,Mandal AK,Chandrasekhar G,Thomas R

    更新日期:2007-12-01 00:00:00

  • A scanning ocular spectrofluorophotometer.

    abstract::We describe an instrument called a scanning ocular spectrofluorophotometer (SOSF) that measures fluorescence in a two-dimensional cross-section through the anterior chamber and cornea and provides the ability to change excitation and emission wavelengths rapidly. The output of a xenon arc lamp is filtered by a diffrac...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:

    authors: McLaren JW,Brubaker RF

    更新日期:1988-08-01 00:00:00

  • The associations between single nucleotide polymorphisms of DNA repair genes, DNA damage, and age-related cataract: Jiangsu Eye Study.

    abstract:PURPOSE:Age-related cataract (ARC) is one of the most common causes of severe visual impairment among the elderly worldwide with four subtypes, such as cortical, nuclear, subcapsular, and mixed types. DNA damage and malfunction of DNA repair are believed to contribute to the pathogenesis of ARC. This study examined the...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.12-10940

    authors: Su S,Yao Y,Zhu R,Liang C,Jiang S,Hu N,Zhou J,Yang M,Xing Q,Guan H

    更新日期:2013-02-01 00:00:00

  • Inhibition of DNA Methylation and Methyl-CpG-Binding Protein 2 Suppresses RPE Transdifferentiation: Relevance to Proliferative Vitreoretinopathy.

    abstract:PURPOSE:The purpose of this study was to evaluate expression of methyl-CpG-binding protein 2 (MeCP2) in epiretinal membranes from patients with proliferative vitreoretinopathy (PVR) and to investigate effects of inhibition of MeCP2 and DNA methylation on transforming growth factor (TGF)-β-induced retinal pigment epithe...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.14-16258

    authors: He S,Barron E,Ishikawa K,Nazari Khanamiri H,Spee C,Zhou P,Kase S,Wang Z,Dustin LD,Hinton DR

    更新日期:2015-08-01 00:00:00

  • Measuring In Vivo Free Radical Production by the Outer Retina.

    abstract:PURPOSE:Excessive and continuously produced free radicals in the outer retina are implicated in retinal aging and the pathogenesis of sight-threatening retinopathies, yet measuring outer retinal oxidative stress in vivo remains a challenge. Here, we test the hypothesis that continuously produced paramagnetic free radic...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.15-18420

    authors: Berkowitz BA,Bredell BX,Davis C,Samardzija M,Grimm C,Roberts R

    更新日期:2015-12-01 00:00:00

  • An ocular renin-angiotensin system. Immunohistochemistry of angiotensinogen.

    abstract::The circulating renin-angiotensin system (RAS) is an important determinant in maintaining adequate systemic blood pressure, and it also may modify organ-specific blood flow. All recognized RAS components have been identified in the eye. In this study, angiotensinogen (ANG) was localized using an affinity-purified anti...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:

    authors: Sramek SJ,Wallow IH,Tewksbury DA,Brandt CR,Poulsen GL

    更新日期:1992-04-01 00:00:00

  • Biochemical and biophysical properties of recombinant human interphotoreceptor retinoid binding protein.

    abstract:PURPOSE:Interphotoreceptor retinoid-binding protein (IRBP) binds and transports retinoids and fatty acids in the interphotoreceptor space (IPS). To understand the relationship between the protein structure and its functions requires bulk quantities of human IRBP. The authors sought to produce recombinant human IRBP (rh...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:

    authors: Lin ZY,Si JS,Nickerson JM

    更新日期:1994-09-01 00:00:00

  • Transpupillary irradiation of the rabbit retina with the cw-Nd:YAG laser. I. Acute morphologic effects produced using two different pulse forms.

    abstract::The retinas of six pigmented rabbits (12 eyes) were irradiated with a cw-Nd:YAG laser using two different pulse forms, in conjunction with a constant pulse duration of 200 msec and a retinal focus diameter of 200 microns. The first pulse form (a) was characterized by an initial transient, lasting 15-20 msec, with a pe...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:

    authors: van der Zypen E,Fankhauser F,Kwasniewska S,England C

    更新日期:1990-01-01 00:00:00

  • Genetic characterization and susceptibility for sarcoidosis in Japanese patients: risk factors of BTNL2 gene polymorphisms and HLA class II alleles.

    abstract:PURPOSE:Sarcoidosis is a heterogeneous and multisystem granulomatous disorder. The etiology still is uncertain, but the disease currently is thought to be triggered by various genetic as well as environmental factors. Recently, an association between sarcoidosis and the butyrophilin-like 2 (BTNL2) gene located in close...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.12-10491

    authors: Suzuki H,Ota M,Meguro A,Katsuyama Y,Kawagoe T,Ishihara M,Asukata Y,Takeuchi M,Ito N,Shibuya E,Nomura E,Uemoto R,Nishide T,Namba K,Kitaichi N,Morimoto S,Kaburaki T,Ando Y,Takenaka S,Nakamura J,Saeki K,Ohno S,In

    更新日期:2012-10-11 00:00:00

  • Tissue Transglutaminase Elevates Intraocular Pressure in Mice.

    abstract:Purpose:Tissue transglutaminase (TGM2) is elevated in glaucomatous trabecular meshwork (TM) tissues. We investigated whether increased expression of TGM2 increases extracellular matrix crosslinking in the TM, thereby increasing aqueous humor outflow resistance and elevating intraocular pressure (IOP) in mouse eyes. Me...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.17-22236

    authors: Raychaudhuri U,Millar JC,Clark AF

    更新日期:2017-12-01 00:00:00

  • Effects of a fixation target on torsional optokinetic nystagmus.

    abstract:PURPOSE:To investigate the effects of an imaginary and a visual target on torsional optokinetic nystagmus (tOKN) and directional symmetry of tOKN. METHODS:Torsional OKN was induced by a rotating random dot pattern (52 degrees in diameter, constant angular velocity: +/-30 deg/sec to +/-52 deg/sec) with an imaginary or ...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:

    authors: Suzuki Y,Shinmei Y,Nara H,Ifukube T

    更新日期:2000-09-01 00:00:00

  • Generation of complement membrane attack complex in normal human corneas.

    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:

    authors: Mondino BJ,Chou HJ,Sumner HL

    更新日期:1996-07-01 00:00:00

  • The Effect of PKCα on the Light Response of Rod Bipolar Cells in the Mouse Retina.

    abstract:PURPOSE:Protein kinase C α (PKCα) is abundantly expressed in rod bipolar cells (RBCs) in the retina, yet the physiological function of PKCα in these cells is not well understood. To elucidate the role of PKCα in visual processing in the eye, we examined the effect of genetic deletion of PKCα on the ERG and on RBC light...

    journal_title:Investigative ophthalmology & visual science

    pub_type: 杂志文章

    doi:10.1167/iovs.15-16622

    authors: Xiong WH,Pang JJ,Pennesi ME,Duvoisin RM,Wu SM,Morgans CW

    更新日期:2015-07-01 00:00:00