Dataset Information

Association of common SIX6 polymorphisms with peripapillary retinal nerve fiber layer thickness: the Singapore Chinese Eye Study.

ABSTRACT: Recently the common SIX6 missense variant rs33912345 was found to be highly associated with glaucoma. The aim of this study was to investigate the association between this SIX6 variant and peripapillary retinal nerve fiber layer (RNFL) thickness measured by spectral-domain optical coherence tomography (SD-OCT) in a population setting.Study subjects were enrolled from the Singapore Chinese Eye Study (SCES), a population-based survey of Singaporean Chinese aged 40 years or older. Subjects underwent a comprehensive ocular examination. Spectral-domain OCT was used to measure RNFL thicknesses. Genotyping of SIX6 rs33912345 (Asn141His) was performed using HumanExome BeadChip.A total of 2129 eyes from 1243 SCES subjects (mean age: 55.0 ± 7.4 years) with rs33912345 genotype data and SD-OCT images were included for the analysis. Of these, 26 eyes of 21 subjects had glaucoma. The frequency of rs33912345 risk variant C (His141) was 80% in the study subjects. Each rs33912345 C allele was associated with a decrease of 1.44 ?m in RNFL thickness after adjusting for age, sex, genetic principal components, and axial length (P = 0.001). These associations remained similar in 2096 nonglaucoma eyes in which each C allele was associated with a decrease of 1.39 ?m in RNFL thickness (P = 0.001). The strongest association was observed in the superior RNFL sector (a decrease of 2.83 ?m per risk allele, P < 0.001) followed by the inferior RNFL sector (a decrease of 2.24 ?m per risk allele, P = 0.003), while the association did not reach significance in the nasal and temporal sectors.Nonglaucomatous individuals with the SIX6 missense variant have reduced RNFL thickness in regions known to be particularly affected in those with glaucoma. This may be the primary mechanism for increased risk of POAG in individuals who carry the SIX6 His141 risk variant.

SUBMITTER: Cheng CY

PROVIDER: S-EPMC4544593 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Association of common SIX6 polymorphisms with peripapillary retinal nerve fiber layer thickness: the Singapore Chinese Eye Study.

Cheng Ching-Yu CY Allingham R Rand RR Aung Tin T Tham Yih-Chung YC Hauser Michael A MA Vithana Eranga N EN Khor Chiea Chuen CC Wong Tien Yin TY

Investigative ophthalmology & visual science 20141223 1

<h4>Purpose</h4>Recently the common SIX6 missense variant rs33912345 was found to be highly associated with glaucoma. The aim of this study was to investigate the association between this SIX6 variant and peripapillary retinal nerve fiber layer (RNFL) thickness measured by spectral-domain optical coherence tomography (SD-OCT) in a population setting.<h4>Methods</h4>Study subjects were enrolled from the Singapore Chinese Eye Study (SCES), a population-based survey of Singaporean Chinese aged 40 y ...[more]

PMID: 25537207

Similar Datasets

Project description:ImportanceType 2 diabetes is expected to accelerate age-related peripapillary retinal nerve fiber layer (pRNFL) loss, but limited information on the rate of reduction in pRNFL thicknesses in patients with type 2 diabetes is available.ObjectiveTo investigate longitudinal changes in pRNFL thickness in patients with type 2 diabetes, with or without diabetic retinopathy (DR).Design, setting, and participantsA total of 164 eyes of 63 healthy individuals and 101 patients with type 2 diabetes (49 patients without DR [non-DR group] and 52 patients with mild to moderate nonproliferative DR [NPDR group]) were enrolled in this prospective, longitudinal, observational study from January 2, 2013, through February 27, 2015. Participants were followed up for 3 years, and the peripapillary mean and sector RNFL thicknesses were measured at 1-year intervals. The mean rate of pRNFL loss was estimated using a linear mixed model and compared among the 3 groups. Follow-up was completed on March 16, 2018, and data were analyzed from April 2 through July 27, 2018.ExposureType 2 diabetes.Main outcomes and measuresThe rate of reduction in pRNFL thickness in patients with type 2 diabetes.ResultsA total of 164 participants (88 women [53.7%]; mean [SD] age, 58.2 [8.7] years) were included in the study analysis. The mean (SD) age of the control group was 56.5 (9.3) years (39 women [61.9%]); the non-DR group, 59.1 (9.4) years (26 women [53.1%]); and the NPDR group, 59.4 (11.0) years (23 women [44.2%]). Mean (SD) duration of type 2 diabetes was 7.1 (4.4) years in the non-DR group and 13.2 (8.4) years in the NPDR group. The baseline mean (SD) pRNFL thickness was 96.2 (11.0) μm in the control group, 93.5 (6.4) μm in the non-DR group, and 90.4 (7.9) μm in the NPDR group. During 3 years of follow-up, these values decreased to 95.0 (9.2) μm in the control group, 90.3 (6.4) in the non-DR group, and 86.6 (7.9) μm in the NPDR group. In a linear mixed model, the estimated mean pRNFL loss was -0.92 μm/y in the non-DR group (P < .001) and -1.16 μm/y in the NPDR group (P < .001), which was 2.9-fold (95% CI, 1.1-14.8; P = .003) and 3.3-fold (95% CI, 1.4-18.0; P < .001) greater, respectively, than that of the control group (-0.35 μm/y; P = .01).Conclusions and relevanceProgressive reduction of pRNFL thickness was observed in healthy controls and patients with type 2 diabetes without and with DR; however, type 2 diabetes was associated with a greater loss of pRNFL regardless of whether DR was present. These findings suggest that pRNFL loss may occur in people with type 2 diabetes even in the absence of DR progression.

Project description:ObjectiveThis study aimed to compare the peripapillary retinal nerve fiber layer (pRNFL) thickness and macular thickness (MT) between patients with non-diabetic chronic kidney disease (NDCKD) and controls, as well as between different stages of NDCKD. We also evaluated the correlation between pRNFL thickness and MT with duration of NDCKD.MethodsThis was a comparative cross-sectional study. Subjects were divided into NDCKD and control groups. Both pRNFL thickness and MT, including center subfield thickness (CST), average MT as well as average ganglion cell-inner plexiform layer (GC-IPL) were measured using spectral-domain optical coherence tomography. One-way ANCOVA test was used to compare the differences in pRNFL and MT between NDCKD and controls, as well as between the different stages of NDCKD. Spearman rank-order correlation coefficients were employed to determine the effects of NDCKD duration on pRNFL thickness and MT.ResultsA total of 132 subjects were recruited, 66 with NDCKD and 66 controls. There was a statistically significant difference in superior (110.74 ± 23.35 vs 117.36 ± 16.17 μm, p = 0.022), nasal (65.97 ± 12.90 vs 69.35 ± 10.17 μm, p = 0.006), inferior quadrant (117.44 ± 23.98 vs 126.15 ± 14.75 μm, p = 0.006), average pRNFL (90.36 ± 14.93 vs 95.42 ± 9.87 μm, p = 0.005), CST (231.89 ± 26.72 vs 243.30 ± 21.05 μm, p = 0.006), average MT (268.88 ± 20.21 vs 274.92 ± 12.79 μm, p = 0.020) and average GC-IPL (75.48 ± 12.44 vs 81.56 ± 6.48, p = 0.001) values between the NDCKD group and controls. The superior quadrant (p = 0.007), nasal quadrant (p = 0.030), inferior quadrant (p = 0.047), average pRNFL (p = 0.006), average MT (p = 0.001) and average GC-IPL (p = 0.001) differed significantly between different stages of NDCKD. There was no correlation between pRNFL thickness and MT with duration of NDCKD.ConclusionCST, average MT, average GC-IPL thickness, average pRNFL and all quadrants of pRNFL except the temporal quadrant were significantly thinner in NDCKD patients compared to controls. These changes were associated with the severity of CKD, but not its duration.

Dataset Information

Association of common SIX6 polymorphisms with peripapillary retinal nerve fiber layer thickness: the Singapore Chinese Eye Study.

Publications

Association of common SIX6 polymorphisms with peripapillary retinal nerve fiber layer thickness: the Singapore Chinese Eye Study.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets