Abstract:
PURPOSE:To examine the extent to which the two major determinants of refractive error, corneal curvature and axial length, are scaled relative to one another by shared genetic variants, along with their relationship to the genetic scaling of height. METHODS:Corneal curvature, axial length, and height were measured in unrelated 14- to 17-year-old white European participants of the Avon Longitudinal Study of Parents and Children (ALSPAC; n = 1915) and in unrelated 40- to 80-year-old participants of the Singapore Chinese Eye Study (SCES; n = 1642). Univariate and bivariate heritability analyses were performed with methods that avoid confounding by common family environment, using information solely from genome-wide high-density genotypes. RESULTS:IN ALSPAC SUBJECTS, AXIAL LENGTH, CORNEAL CURVATURE, AND HEIGHT HAD SIMILAR LOWER-BOUND HERITABILITY ESTIMATES: axial length, h(2) = 0.46 (SE = 0.16, P = 0.002); corneal curvature, h(2) = 0.42 (SE = 0.16, P = 0.004); height, h(2) = 0.48 (SE = 0.17, P = 0.002). The corresponding estimates in the SCES were 0.79 (SE = 0.18, P < 0.001), 0.35 (SE = 0.20, P = 0.036), and 0.31 (SE = 0.20, P = 0.061), respectively. The genetic correlation between corneal curvature and axial length was 0.69 (SE = 0.17, P = 0.019) for ALSPAC participants and 0.64 (SE = 0.22, P = 0.003) for SCES participants. In the subset of 1478 emmetropic ALSPAC individuals, the genetic correlation was 0.85 (SE = 0.12, P = 0.008). CONCLUSIONS:These results imply that coordinated scaling of ocular component dimensions is largely achieved by hundreds to thousands of common genetic variants, each with a small pleiotropic effect. Furthermore, genome-wide association studies (GWAS) for either axial length or corneal curvature are likely to identify variants controlling overall eye size when using discovery cohorts dominated by emmetropes, but trait-specific variants in discovery cohorts dominated by ametropes.
journal_name
Invest Ophthalmol Vis Scijournal_title
Investigative ophthalmology & visual scienceauthors
Guggenheim JA,Zhou X,Evans DM,Timpson NJ,McMahon G,Kemp JP,St Pourcain B,Northstone K,Ring SM,Fan Q,Wong TY,Cheng CY,Khor CC,Aung T,Saw SM,Williams Cdoi
10.1167/iovs.12-10560subject
Has Abstractpub_date
2013-03-07 00:00:00pages
1715-21issue
3eissn
0146-0404issn
1552-5783pii
iovs.12-10560journal_volume
54pub_type
杂志文章abstract:Purpose:High myopia (HM) is defined as a refractive error worse than -6.00 diopter (D). This study aims to update the phenotypic and genotypic landscape of nonsyndromic HM and to establish a biological link between the phenotypic traits and genetic deficiencies. Methods:A cross-sectional study involving 731 participan...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.19-27921
更新日期:2019-09-03 00:00:00
abstract:PURPOSE:To test the effects of subconjunctival topotecan (TPT) in fibrin sealant (FS) in transgenic murine retinoblastoma (RB). METHODS:Growth inhibitory, apoptotic, and cell cycle effects of TPT were assayed in human RB cell lines. In a dose-escalation study, eight groups of three 10- to 14-week-old wild-type mice we...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.07-0653
更新日期:2008-02-01 00:00:00
abstract:PURPOSE:To evaluate how aging alters 24-hour measurements of intraocular pressure (IOP) in the sitting and supine body positions. METHODS:Fifteen older volunteers with healthy eyes (ages, 53-71 years) were each housed for 1 day in a sleep laboratory. An 8-hour accustomed sleep period was assigned to each subject. Ever...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.11-8763
更新日期:2012-01-10 00:00:00
abstract:PURPOSE:To identify cell types and extracellular matrix components in Molteno implant capsules. METHODS:Histologic features including cytology, distribution of apoptotic cells, cytoantigens, collagens, basement membranes, elastic fibers, and glycoproteins were examined by light microscopy. Findings were correlated wit...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.07-1424
更新日期:2009-03-01 00:00:00
abstract:PURPOSE:To investigate the specific role of very late antigen-1 (VLA-1; also known as integrin α1β1) in corneal inflammatory lymphangiogenesis in vivo and lymphatic endothelial cell functions in vitro. METHODS:A standard suture-induced corneal inflammatory lymphangiogenesis model was used in normal adult BALB/c mice t...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.10-6580
更新日期:2011-07-01 00:00:00
abstract:PURPOSE:In the Gbeta5(-/-) mouse, the electroretinogram (ERG) b-wave is absent, and the R7 subfamily of regulators of G protein signaling (RGS), which includes RGS6, -7, -9, and -11, is downregulated. Mutant mouse strains deficient in RGS7 or -11 were characterized, and the SG711 strain which is deficient in both prote...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.09-4084
更新日期:2010-02-01 00:00:00
abstract:Purpose:To investigate by optical coherence tomography angiography (OCT-A) the choroidal vascular response to experimentally increased blood pressure in patients with central serous chorioretinopathy (CSCR). Methods:For this multicenter, observational, case-control study, we enrolled 35 patients with an established di...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章,多中心研究
doi:10.1167/iovs.18-23995
更新日期:2018-08-01 00:00:00
abstract::Two-dimensional electrophoretic maps of extracts from eleven normal and eleven keratoconus corneas were compared. Of the eleven corneas analyzed, eight were pooled and the remaining three were analyzed individually. Several differences were demonstrated between electrophoretic patterns of normal and keratoconus cornea...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1989-12-01 00:00:00
abstract:PURPOSE:To determine whether the uniform field and pattern ERGs that are reduced in macaque eyes with experimental glaucoma have the same inner-retinal origins. METHODS:ERGs were recorded from 14 anesthetized adult macaques using DTL electrodes. Six monkeys had laser-induced experimental glaucoma, and two others recei...
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:To determine the effect of triamcinolone acetonide (TA) on outflow facility in mice. METHODS:Animals received 20 μL of TA (40 mg/mL) suspension subconjunctivally either bilaterally or unilaterally and were euthanized after either 1 week or 3 weeks. Before mice were killed, IOP was measured with a rebound tonom...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.12-11223
更新日期:2013-02-01 00:00:00
abstract::A pattern electroretinogram (PERG) can be recorded when the eye wearing the electrode is occluded and the stimulus is viewed with the other eye. We find that this phenomenon occurs when an Arden gold foil electrode is used, but not when either an ERG-Jet lens or a scleral lens electrode is used. Therefore, a corneal-t...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1983-11-01 00:00:00
abstract:PURPOSE:Sensory imbalances in humans with amblyopia have been well documented using luminance-modulated (first-order) stimuli. However, little is known regarding whether there is a deficient binocular combination in amblyopes for stimuli defined by modulations in contrast (second-order stimuli). To address this, we ask...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.15-18253
更新日期:2016-04-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.10-6536
更新日期:2011-04-08 00:00:00
abstract:PURPOSE:To evaluate the influence of a control group on the diagnostic accuracy of spectral-domain optical coherence tomography (SD-OCT) in early glaucoma. METHODS:In a diagnostic, case-control study, 119 eyes of 60 normal subjects with no findings suspicious for glaucoma (control cohort 1); 76 eyes of 41 subjects ref...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.11-8463
更新日期:2012-02-29 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1986-01-01 00:00:00
abstract:PURPOSE:To reevaluate the validity of the light scatter factor (LSF) formula of Paulsson and Sjöstrand, LSF = L/E (M2/M1-1), where L is the target luminance, E is the illuminance of the glare source at the eye, and M2 and M1 are modulation contrast thresholds measured with and without the glare source, respectively. Th...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1994-01-01 00:00:00
abstract:PURPOSE:To determine the effects of topical dorzolamide (a carbonic anhydrase inhibitor) on choroidal and ciliary blood flow and the relationship between ciliary blood flow and aqueous flow. METHODS:The experiments were performed in four groups of pentobarbital-anesthetized rabbits treated with topical dorzolamide (2%...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.08-2468
更新日期:2009-05-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1978-04-01 00:00:00
abstract::The integrity of the RPE barrier function in retinal detachment was studied in vitro. The retinal pigment epithelium (RPE)-choroid tissue was isolated from cynomolgus monkey eyes with acute (less than 1 hr), subacute (1-2 weeks), and chronic (8-20 months) retinal detachments, and clamped between Ussing-type chambers. ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1987-11-01 00:00:00
abstract:PURPOSE:To establish mouse models for RPGR-associated diseases by generating and characterizing an Rpgr mutation (in-frame deletion of exon 4) in two different genetic backgrounds (BL/6 and BALB/c). METHODS:Gene targeting in embryonic stem (ES) cells was performed to introduce a in-frame deletion of exon 4 in the Rpgr...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.08-2742
更新日期:2010-02-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1995-07-01 00:00:00
abstract:PURPOSE:Classic studies have demonstrated that corneal epithelial cell density in culture can alter the balance of stimulatory and inhibitory cytokines controlling the elaboration of collagenolytic activity by co-cultured stromal cells. The current study attempts to bring the understanding of this mechanism to a molecu...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1997-02-01 00:00:00
abstract::Using a freezing point depression method, requiring volumes of only 200 nanoliters, the osmolalities of 324 tear samples collected at consecutive 10-minute intervals throughout 8.5-hour periods from each of six healthy young adults were measured. The population mean was found to be 318 mOsm/kg, with a population media...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1983-12-01 00:00:00
abstract::Chronic blepharitis has been a difficult disease to define either microbiologically or biochemically. Sterols from meibomian secretions of normal subjects and patients were analyzed, and important differences were observed. Based on analyses of these secretions, two significantly different (P less than 0.001) types of...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1991-07-01 00:00:00
abstract::Freshly enucleated rabbit eyes were refrigerated at +4 degrees C under standard eye bank conditions for 2, 6, 9, and 21 days. One group of corneas with a scleral rim were excised and placed in M-K medium, stored for 18, 24, or 48 hr at +4 degrees C; they were then removed, and endothelial cell viability was evaluated ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1978-02-01 00:00:00
abstract:PURPOSE:To model the photochemical kinetics of corneal cross-linking with riboflavin (Rf) and confirm the model through measured oxygen concentration experiments under varying energy input conditions by UV-A irradiance and temperature modulation in ex vivo porcine cornea. METHODS:A theoretical model was developed to d...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.11-9385
更新日期:2012-04-30 00:00:00
abstract:PURPOSE:Floppy eyelid syndrome (FES) is an acquired hyperelasticity disorder affecting the upper eyelid. The tarsal plate becomes hyperelastic with a loss of intrinsic rigidity. As a result, the eyelid is subjected to cyclic mechanical stress. This condition was used as a model to investigate changes in dynamic fibrobl...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.09-4724
更新日期:2010-08-01 00:00:00
abstract:PURPOSE:The S1 RNA binding domain 1 (SRBD1) and elongation of long-chain fatty acids family member 5 (ELOVL5) have been reported to be susceptibility genes for early-onset normal-tension glaucoma (NTG). The present study we conducted to assess whether these genes were associated with primary open-angle glaucoma (POAG),...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章,多中心研究
doi:10.1167/iovs.11-7382
更新日期:2011-06-28 00:00:00
abstract:PURPOSE:To determine the efficacy of a new formulation of topical dexamethasone 0.1%/povidone-iodine 0.4% (FST-100) in reducing clinical symptoms and infectious viral titers in a rabbit model of adenoviral keratoconjunctivitis. METHODS:Rabbit corneas were inoculated bilaterally with 2×10(6) plaque-forming-units (PFU) ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.10-5944
更新日期:2011-01-21 00:00:00
abstract:PURPOSE:To determine the intergrader reproducibility for computer-assisted grading of optical coherence tomography (OCT) images in eyes with neovascular age-related macular degeneration (AMD), by using a standardized grading procedure. METHODS:Sixty OCT image sets (of six radial lines each) were independently analyzed...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.07-0179
更新日期:2007-09-01 00:00:00