Central corneal thickness (CCT) is a highly heritable trait, which has been proposed to influence disorders of the anterior segment of the eye. A genome-wide association study (GWAS) of CCT was performed in 2269 individuals from three Croatian and one Scottish population. In the discovery set (1445 individuals), two genome-wide significant associations were identified for single nucleotide polymorphisms rs12447690 (β = 0.23 SD, P = 4.4 × 10(-9)) and rs1536482 (β = 0.22 SD, P = 7.1 × 10(-8)) for which the closest candidate genes (although ≥90 kb away) were zinc finger 469 (ZNF469) on 16q24.2 and collagen 5 alpha 1 (COL5A1) on 9q34.2, respectively. Only the ZNF469 association was confirmed in our replication set (824 individuals, P = 8.0 × 10(-4)) but COL5A1 remained a suggestive association in the combined sample (β = 0.16 SD, P = 1.1 × 10(-6)). Following a larger meta-analysis including recently published CCT GWAS summary data, COL5A1 was genome-wide significant (β = 0.13 SD, P = 5.1 × 10(-8)), together with two additional novel loci. The second new locus (defined by rs1034200) was 5 kb from the AVGR8 gene, encoding a putative transcription factor with typical ZNF and KRAB domains, in chromosomal region 13q12.11 (β = 0.14 SD, P = 3.5 × 10(-9)). The third new locus (rs6496932), on 15q25.3 (β = 0.13, P = 1.4 × 10(-8)), was within a wide linkage disequilibrium block extending into the 5' end of the AKAP13 gene, encoding a scaffold protein concerned with signal transduction from the cell surface. These associations offer mechanistic insights into the regulation of CCT and offer new candidate genes for susceptibility to common disorders in which CCT has been implicated, including primary open-angle glaucoma and keratoconus.
BackgroundGlaucoma, the second leading cause of blindness, affects approximately 64.3 million individuals worldwide. In China, demographic ageing is in rapid progress. Yet detailed and up–to–date estimates of the scale of glaucoma are rare. We aimed to quantify and understand the prevalence and burden of glaucoma in China from 1990 to 2015, with projections until 2050.MethodsFor this systematic review and meta–analysis, we searched China National Knowledge Infrastructure (CNKI), Wanfang, Chinese Biomedicine Literature Database (CBM–SinoMed), PubMed, Embase and Medline using comprehensive search strategies to identify all relevant articles that have reported the prevalence of glaucoma in the general Chinese population. We used a multilevel mixed–effect meta–regression to estimate the prevalence rates of primary open–angle glaucoma (POAG) and primary angle–closure glaucoma (PACG), and a random–effects meta–analysis to pool the overall prevalence of secondary glaucoma. United Nations population data were used to estimate and project the number of people with glaucoma from 1990 to 2050. Univariable and multivariable meta–regressions were conducted to assess the association between the prevalence of POAG and PACG and relevant demographic and geographic factors. The national burden of POAG and PACG in the years 2000 and 2010 were distributed to six geographic regions accordingly.ResultsFrom 1990 to 2015, the prevalence of all glaucoma ranged from 2.59% (95% CI = 1.96–3.49) to 2.58% (95% CI = 1.94–3.47). For different subtypes of glaucoma, the overall prevalence of POAG ranged from 1.03% (95% CI = 0.67–1.58) in 1990 to 1.02% (95% CI = 0.67–1.57) in 2015, PACG from 1.41% (95% CI = 1.18–1.68) to 1.40% (95% CI = 1.17–1.68). The overall prevalence of secondary glaucoma was 0.15% (95% CI = 0.10–0.23) during this period. The number of people with all glaucoma in China was 5.92 million (95% CI = 4.47–7.97) in 1990, and 13.12 million (95% CI = 9.88–17.68) in 2015. This increasing trend was also witnessed in different subtypes of glaucoma. The number of people affected by POAG increased from 2.35 million (95% CI = 1.54–3.60) in 1990 to 5.22 million (95% CI = 3.40–7.98) in 2015, PACG from 3.22 million (95% CI = 2.70–3.84) to 7.14 million (95% CI = 5.97–8.53), and secondary glaucoma from 0.34 million (95% CI = 0.23–0.53) to 0.76 million (95% CI = 0.51–1.17). In 2015, more than half (54.42%) of the glaucoma cases were PACG, followed by POAG (39.79%) and secondary glaucoma (5.79%). By 2050, the number of all glaucoma cases in China will be 25.16 million (95% CI = 18.96–33.86). In the multivariable meta–regressions, the odds ratio (OR) for each decade’s increase in age was 1.43 (95% CI = 1.33–1.55) for POAG, and 1.65 (95% CI = 1.51–1.80) for PACG; males were more likely to have POAG (OR 1.36, 95% CI = 1.17–1.59), but less likely to have PACG (OR 0.53, 95% CI = 0.46–0.60) compared with females. After adjustment of age and gender, people living in urban areas were more likely to have POAG compared with those in rural areas (OR 1.54, 95...
BackgroundTo study the epidemiology of ocular trauma requiring hospital admission in children under 18 years in age.MethodsThis retrospective cohort study included pediatric patients with ocular injuries at the Ophthalmology Department of the Clinical Hospital Centre, Split, Croatia, from 2000 to 2015, classified according to the Birmingham Eye Trauma Terminology.ResultsThere were 353 children hospitalized, 82% of boys (mean age 11 years) and 18% of girls (mean age 10 years). The majority of traumas occurred in the outside environment (70%, n = 249), followed by occurrences at home (17%, n = 60), and at a school/nursery (8%, n = 28). Final visual acuity was 6/18 or better in 286 (96%) patients with closed globe injury and in 26 (49%) patients with open globe injury. Severe impairment of vision was found in 12 (4.4%) patients in the closed globe injury group and 26 (49%) patients in the open globe injury group. A statistically significant difference was found between final visual acuity and initial visual acuity in all patients (χ2 = 12.8; P < 0.001).ConclusionThe majority of pediatric eye injuries are happening in the outside environment and are preventable. Implementation of well–established safety precautions would greatly reduce this source of visual disability in children.
Propolis is one of the richest sources of plant phenolics (flavonoids and phenolic acids), which are widely recognized as rather strong antioxidants. The aim of our work was to use colored stable free radical (DPPH · and ABTS ·+) spectrophotometric and thin-layer chromatographic (TLC) assays to study the antioxidative behavior of the phenolics (caffeic acid, galangin and pinocembrin) most commonly present in Croatian propolis samples obtained from different Croatian regions. We propose a mathematical model providing a more sophisticated interpretation of the obtained results and a new parameter named antioxidative efficiency (AOE) is introduced. The kinetic behaviour of chosen standards determined by spectrophotometric assays follows the exponential decrease of the absorption curve. Explained numerically, AOE represents the absolute value of the first derivative of an absorbance curve in the point A 0 /e (where A 0 is the absorbance measured at t = 0 and e is the natural logarithm base). The advantage of this newly introduced parameter is that it provides an easy and accurate mutual comparison between the rates of antioxidative efficiency of different propolis samples. A TLC assay was only applicable in the case of the DPPH · radical. Dose-response curves were described using a linear function with AOE expressed as a coefficient of the slope. The chromatographic method was shown to be very rapid, reliable and easy-to-perform.
Cataract is a rare manifestation of ocular complication at an early phase of T1DM in the pediatric population. The pathophysiological mechanism of early diabetic cataract has not been fully understood; however, there are many theories about the possible etiology including osmotic damage, polyol pathway, and oxidative stress. The prevalence of early diabetic cataract in the population varies between 0.7 and 3.4% of children and adolescents with T1DM. The occurrence of diabetic cataract in most pediatric patients is the first sign of T1DM or occurs within 6 months of diagnosis of T1DM. Today, there are many experimental therapies for the treatment of diabetic cataract, but cataract surgery continues to be a gold standard in the treatment of diabetic cataract. Since the cataract is the leading cause of visual impairment in patients with T1DM, diabetic cataract requires an initial screening as well as continuous surveillance as a measure of prevention and this should be included in the guidelines of pediatric diabetes societies.
The aim was to estimate association of the oxidative stress with the occurrence of age-related macular degeneration (AMD). The activities of erythrocyte antioxidant enzymes: superoxide dismutase (SOD), glutathione peroxidase (GPx) and catalase (CAT) and additionally serum total antioxidant status (TAS) were used as indicators of the oxidative stress level. 57 AMD patients (32 early and 25 late AMD) and 50 healthy, age and gender matched controls were included. GPx activity (P < 0.001) and serum TAS (P = 0.015) were significantly lower in AMD patients. The difference was not significant for SOD or CAT activities. Significant interaction between GPx and SOD was detected (P = 0.003). At high levels of SOD activity (over 75th percentile), one standard deviation decrease in GPx increases the odds for AMD for six times (OR = 6.22; P < 0.001). ROC analysis revealed that combined values of GPx activity and TAS are significant determinants of AMD status. Accuracy, sensitivity, specificity, and positive and negative predictive values were 75%, 95%, 52%, 69%, and 90%, respectively. The study showed that low GPx activity and TAS are associated with AMD. SOD modulates the association of GPx and AMD. The results suggest that erythrocyte antioxidant enzymes activity and serum TAS could be promising markers for the prediction of AMD.
While heritabilities of CT and CC seemed uniformly high across studies of Caucasian datasets, estimates for SER varied widely and were at the lower end of the spectrum of published observations in our study.
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