Dataset Information

Quantitative Trait Locus Analysis of SIX1-SIX6 With Retinal Nerve Fiber Layer Thickness in Individuals of European Descent.

ABSTRACT: To perform a quantitative trait locus (QTL) analysis and evaluate whether a locus between SIX1 and SIX6 is associated with retinal nerve fiber layer (RNFL) thickness in individuals of European descent.Observational, multicenter, cross-sectional study.A total of 231 participants were recruited from the Diagnostic Innovations in Glaucoma Study and the African Descent and Glaucoma Evaluation Study. Association of rs10483727 in SIX1-SIX6 with global and sectoral RNFL thickness was performed. Quantitative trait analysis with the additive model of inheritance was analyzed using linear regression. Trend analysis was performed to evaluate the mean global and sectoral RNFL thickness with 3 genotypes of interest (T/T, C/T, C/C). All models were adjusted for age and sex.Direction of association between T allele and RNFL thickness was consistent in the global and different sectoral RNFL regions. Each copy of the T risk allele in rs10483727 was associated with -0.16 ?m thinner global RNFL thickness (? = -0.16, 95% confidence interval: -0.28 to -0.03; P = .01). Similar patterns were found for the sectoral regions, including inferior (P = .03), inferior-nasal (P = .017), superior-nasal (P = .0025), superior (P = .002) and superior-temporal (P = .008). The greatest differences were observed in the superior and inferior quadrants, supporting clinical observations for RNFL thinning in glaucoma. Thinner global RNFL was found in subjects with T/T genotypes compared to subjects with C/T and C/C genotypes (P = .044).Each copy of the T risk allele has an additive effect and was associated with thinner global and sectoral RNFL. Findings from this QTL analysis further support a genetic contribution to glaucoma pathophysiology.

SUBMITTER: Kuo JZ

PROVIDER: S-EPMC4509729 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature

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Quantitative Trait Locus Analysis of SIX1-SIX6 With Retinal Nerve Fiber Layer Thickness in Individuals of European Descent.

Kuo Jane Z JZ Zangwill Linda M LM Medeiros Felipe A FA Liebmann Jeffery M JM Girkin Christopher A CA Hammel Na'ama N Rotter Jerome I JI Weinreb Robert N RN

American journal of ophthalmology 20150404 1

<h4>Purpose</h4>To perform a quantitative trait locus (QTL) analysis and evaluate whether a locus between SIX1 and SIX6 is associated with retinal nerve fiber layer (RNFL) thickness in individuals of European descent.<h4>Design</h4>Observational, multicenter, cross-sectional study.<h4>Methods</h4>A total of 231 participants were recruited from the Diagnostic Innovations in Glaucoma Study and the African Descent and Glaucoma Evaluation Study. Association of rs10483727 in SIX1-SIX6 with global and ...[more]

PMID: 25849520

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Project description:PURPOSE:To investigate the role of sex on retinal nerve fiber layer (RNFL) thickness at 768 circumpapillary locations based on OCT findings. DESIGN:Population-based cross-sectional study. PARTICIPANTS:We investigated 5646 eyes of 5646 healthy participants from the Leipzig Research Centre for Civilization Diseases (LIFE)-Adult Study of a predominantly white population. METHODS:All participants underwent standardized systemic assessments and ocular imaging. Circumpapillary RNFL (cRNFL) thickness was measured at 768 points equidistant from the optic nerve head using spectral-domain OCT (Spectralis; Heidelberg Engineering, Heidelberg, Germany). To control ocular magnification effects, the true scanning radius was estimated by scanning focus. Student t test was used to evaluate sex differences in cRNFL thickness globally and at each of the 768 locations. Multivariable linear regression and analysis of variance were used to evaluate individual contributions of various factors to cRNFL thickness variance. MAIN OUTCOME MEASURES:Difference in cRNFL thickness between males and females. RESULTS:Our population consisted of 54.8% females. The global cRNFL thickness was 1 ?m thicker in females (P < 0.001). However, detailed analysis at each of the 768 locations revealed substantial location specificity of the sex effects, with RNFL thickness difference ranging from -9.98 to +8.00 ?m. Females showed significantly thicker RNFLs in the temporal, superotemporal, nasal, inferonasal, and inferotemporal regions (43.6% of 768 locations), whereas males showed significantly thicker RNFLs in the superior region (13.2%). The results were similar after adjusting for age, body height, and scanning radius. The superotemporal and inferotemporal RNFL peaks shifted temporally in females by 2.4° and 1.9°, respectively. On regions with significant sex effects, sex explained more RNFL thickness variance than age, whereas the major peak locations and interpeak angle explained most of the RNFL thickness variance unexplained by sex. CONCLUSIONS:Substantial sex effects on cRNFL thickness were found at 56.8% of all 768 circumpapillary locations, with specific patterns for different sectors. Over large regions, sex was at least as important in explaining the cRNFL thickness variance as was age, which is well established to have a substantial impact on cRNFL thickness. Including sex in the cRNFL thickness norm could therefore improve glaucoma diagnosis and monitoring.

Project description:ObjectiveTo evaluate the distribution of macula and circumpapillary retina nerve fiber layer (cpRNFL) thickness and other associated factors among grade-1 primary school children in Lhasa using spectral-domain optical coherence tomography (SD-OCT).MethodologyOCT assessment was conducted on 1856 grade-1 students from 7 primary schools in Lhasa, Tibet following a successful random stratified sampling of the students. Each child underwent comprehensive general and ocular examinations as well as an SD-OCT detection (12 × 9 mm, 3D wide scan mode, Topcon 3D OCT-1) to assess the thickness of the macula, ganglion cell-inner plexiform layer (GCIPL), ganglion cell complex (GCC), and cpRNFL. Multivariate and correlation analyses were performed to evaluate the association of the demographic and ocular variables.ResultsThe average age of the 1762 (94.43%) students who underwent OCT assessment was 6.83 ± 0.46 years. Among them, 984 (53.02%) were boys. The number of students who had macular, cpRNFL, and optic disc scans completed and with adequate image quality were 1412 (82.2%), 1277 (74.4%), and 1243 (72.4%), respectively. The average macula full retinal thickness (FRT), GCIPL, GCC, and cpRNFL thickness of the students was 279.19 ± 10.61 μm, 76.41 ± 4.70 μm, 108.15 ± 6.15 μm, and 112.33 ± 13.5 μm, respectively. Multivariate regression and correlation analysis further revealed that boys and girls had significant differences in their average cpRNFL thickness. Moreover, GCC and GCIPL thickness was negatively correlated with IOP but positively correlated with the body mass index. The thickness of all the layers of the macula and cpRNFL were positively correlated with spherical equivalent. Further to this, the average macular FRT, GCIPL, and GCC thicknesses were positively correlated with cpRNFL global thickness.ConclusionThis study describes the normal distribution of macular retina, cpRNFL, and optic disc parameters in grade-1 Tibetan children in Lhasa. It contributes to the establishment of a normative ophthalmology database of Tibetan children, and advances the ability of OCT in ophthalmic disorder diagnosis during long-term monitoring in plateau.

Dataset Information

Quantitative Trait Locus Analysis of SIX1-SIX6 With Retinal Nerve Fiber Layer Thickness in Individuals of European Descent.

Publications

Quantitative Trait Locus Analysis of SIX1-SIX6 With Retinal Nerve Fiber Layer Thickness in Individuals of European Descent.

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