Dataset Information

Association of SIX1/SIX6 locus polymorphisms with regional circumpapillary retinal nerve fibre layer thickness: The Nagahama study.

ABSTRACT: SIX1 and SIX6 are glaucoma susceptibility genes. Previous reports indicate that the single nucleotide polymorphism (SNP) rs33912345 in SIX6 is associated with inferior circumpapillary retinal nerve fibre layer (cpRNFL) thickness (cpRNFLT). Although the region of visual field defect in glaucoma patients is directly related to cpRNFL thinning, a detailed sector analysis has not been performed in genetic association studies. In the present study, we evaluated 26 tagging SNPs in the SIX1/SIX6 locus ±50?kb region in a population of 2,306 Japanese subjects with 4- and 32-sector cpRNFLT analysis. While no SNPs showed a significant association with cpRNFLT in the 4-sectored analysis, the finer 32-sector assessment clearly showed a significant association between rs33912345 in the SIX1/SIX6 locus with inferior cpRNFL thinning at 292.5-303.8° (??=?-4.55, P?=?3.0?×?10-5). Furthermore, the fine-sectored cpRNFLT analysis indicated that SIX1/SIX6 polymorphisms would affect cpRNFL thinning at 281.3-303.8°, which corresponds to parafoveal scotoma in a visual field test of glaucoma patients.

SUBMITTER: Yoshikawa M

PROVIDER: S-EPMC5491508 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature

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Association of SIX1/SIX6 locus polymorphisms with regional circumpapillary retinal nerve fibre layer thickness: The Nagahama study.

Yoshikawa Munemitsu M Yamashiro Kenji K Nakanishi Hideo H Miyata Manabu M Miyake Masahiro M Hosoda Yoshikatsu Y Tabara Yasuharu Y Matsuda Fumihiko F Yoshimura Nagahisa N

Scientific reports 20170629 1

SIX1 and SIX6 are glaucoma susceptibility genes. Previous reports indicate that the single nucleotide polymorphism (SNP) rs33912345 in SIX6 is associated with inferior circumpapillary retinal nerve fibre layer (cpRNFL) thickness (cpRNFLT). Although the region of visual field defect in glaucoma patients is directly related to cpRNFL thinning, a detailed sector analysis has not been performed in genetic association studies. In the present study, we evaluated 26 tagging SNPs in the SIX1/SIX6 locus ...[more]

PMID: 28663559

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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

Association of SIX1/SIX6 locus polymorphisms with regional circumpapillary retinal nerve fibre layer thickness: The Nagahama study.

Publications

Association of SIX1/SIX6 locus polymorphisms with regional circumpapillary retinal nerve fibre layer thickness: The Nagahama study.

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