A common variant near TGFBR3 is associated with primary open angle glaucoma

Primary open angle glaucoma (POAG), a major cause of blindness worldwide, is a complex disease with a significant genetic contribution. We performed Exome Array (Illumina) analysis on 3504 POAG cases and 9746 controls with replication of the most significant findings in 9173 POAG cases and 26 780 controls across 18 collections of Asian, African and European descent. Apart from confirming strong evidence of association at CDKN2B-AS1 (rs2157719 [G], odds ratio [OR] = 0.71, P = 2.81 × 10−33), we observed one SNP showing significant association to POAG (CDC7–TGFBR3 rs1192415, ORG-allele = 1.13, Pmeta = 1.60 × 10−8). This particular SNP has previously been shown to be strongly associated with optic disc area and vertical cup-to-disc ratio, which are regarded as glaucoma-related quantitative traits. Our study now extends this by directly implicating it in POAG disease pathogenesis

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Abstract Primary open angle glaucoma (POAG), a major cause of blindness worldwide, is a complex disease with a significant genetic contribution. We performed Exome Array ), we observed one SNP showing significant association to POAG (CDC7-TGFBR3 rs1192415, OR G-allele = 1.13, P meta = 1.60 × 10 −8 ). This particular SNP has previously been shown to be strongly associated with optic disc area and vertical cup-to-disc ratio, which are regarded as glaucoma-related quantitative traits. Our study now extends this by directly implicating it in POAG disease pathogenesis

THE ASSOCIATIONS OF SLEEP DURATION AND SLEEP DISTURBANCES WITH RETINOPATHY AND RETINAL VASCULAR PARAMETERS IN PERSONS WITH DIABETES

Master'sMASTER OF SCIENCE (RSH-SOM

Associations between sleep duration, sleep quality and diabetic retinopathy.

Abnormal durations of sleep have been associated with risk of diabetes. However, it is not clear if sleep duration is associated with diabetic retinopathy (DR).In a cross-sectional study, we included 1,231 (Malay, n = 395; Indian, n = 836) adults (mean age 64.4 ± 9.0 years, 50.4% female) with diabetes from the second visit of two independent population-based cohort studies (2011-15) in Singapore. Self-reported habitual sleep duration was categorized as short (<6 h), normal (6≤ h <8), and long (≥8 h). Questionnaires were administered to detect risk of obstructive sleep apnea (OSA), excessive daytime sleepiness, and insomnia, all of which may indicate poor quality of sleep. The associations between sleep-related characteristics with moderate DR and vision-threatening DR (VTDR) were analysed using logistic regression models adjusted for potential confounders.Prevalence of moderate DR and VTDR in the study population were 10.5% and 6.3% respectively. The mean duration of sleep was 6.4 ± 1.5 h. Compared to normal sleep duration, both short and long sleep durations were associated with moderate DR with multivariable odds ratio (95% confidence interval) of 1.73 (1.03-2.89) and 2.17 (1.28-3.66) respectively. Long sleep duration (2.37 [1.16-4.89]), high risk of OSA (2.24 [1.09-4.75]), and excessive daytime sleepiness (3.27 [1.02-10.30]) were separately associated with VTDR.Sleep duration had a U-shaped association with moderate DR; long sleep duration, excessive daytime sleepiness and high risk of OSA were positively associated with VTDR

Associations of sleep variables with moderate diabetic retinopathy.

<p>Associations of sleep variables with moderate diabetic retinopathy.</p

Associations of sleep variables with moderate diabetic retinopathy, stratified by ethnicity.

<p>Associations of sleep variables with moderate diabetic retinopathy, stratified by ethnicity.</p

Associations of sleep variables with vision-threatening diabetic retinopathy.

<p>Associations of sleep variables with vision-threatening diabetic retinopathy.</p

Multivariable-adjusted odds of vision-threatening diabetic retinopathy according to sleep duration.

<p>The solid line represents the predicted odds of vision-threatening diabetic retinopathy from non-parametric logistic regression; the dashed lines represent 95% confidence limits. The nonparametric logistic regression was adjusted for age, gender, ethnicity, education, antihypertensive medication, current smoking, respiratory disorders, mood-related complaints, obesity, systolic and diastolic blood pressure, HbA1c, total cholesterol, low-density lipoprotein cholesterol, duration of diabetes, insulin use.</p

Demographic and clinical characteristics by sleep duration.

<p>Demographic and clinical characteristics by sleep duration.</p