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Background: Diabetic retinopathy (DR) is a retinopathy resulting from diabetes mellitus (DM) which was classified into non-proliferative DR (NPDR) and proliferative DR (PDR). Without an early screening and effective diagnosis, patients with PDR will develop serious complications. Therefore, we sought to identify special serum microRNAs (miRNAs) that can serve as a novel non-invasive screening signature of PDR and test its specificity and sensitivity in the early diagnosis of PDR. Methods: In total, we obtained serum samples from 90 PDR cases, 90 matched NPDR patients and 20 controls. An initial screening of miRNA expression was performed through TaqMan Low Density Array (TLDA). The candidate miRNAs were validated by individual reverse transcription quantitative real-time PCR (RT-qPCR) arranged in an initial and a two-stage validation sets. Moreover, additional double-blind testing was performed in 20 patients clinically suspected of having DR to evaluate the diagnostic value and accuracy of the serum miRNA profiling system in predicting PDR. Results: Three miRNAs were significantly increased in patients with PDR compared with NPDR after the multiple stages. The areas under the receiver operating characteristic (ROC) curves of the validated three-serum miRNAs signature were 0.830, 0.803 and 0.873 in the initial and two validation sets, respectively. Combination of miR-21, miR-181c, and miR-1179 possessed a moderate ability to discrimination between PDR and NPDR with an area under ROC value of 0.89. The accuracy rate of the three-miRNA profile as PDR signature was 82.6%. Conclusions: These data provide evidence that serum miRNAs have the potential to be sensitive, cost-effective biomarkers for the early detection of PDR. These biomarkers could serve as a dynamic monitoring factor for detecting the progression of PDR from NPDR. © 2014 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Purpose: To investigate a possible association between gene variants and patient response to treatment with intravitreal ranibizumab for neovascular age-related macular degeneration (AMD). Methods: Visual acuity score (VAS) was recorded at baseline and a subsequent visit at 6 months. Genotypes of 3 polymorphisms in known AMD susceptibility loci (rs1061170 in complement factor H (CFH), rs11200638 in HTRA1 and rs1413711 in VEGF) were determined. Central retinal thickness and maximum thickness of the lesion were also measured. Results: A total of 168 neovascular AMD patients treated with intravitreal ranibizumab were included in our study. For HTRA1 rs11200638, mean VAS changes were 3.5, 9.4 and 10.6 letters for the AA, AG and GG genotypes, respectively (p = 0.022). In contrast, for CFH rs1061170 and VEGF rs1413711, mean VAS changes were not significant. However, there was no significant difference in the changes in central retinal thickness and maximum lesion thickness among the genotypes of the tested single-nucleotide polymorphisms. Conclusions: HTRA1 gene polymorphism may influence patient response to treatment with intravitreal ranibizumab for neovascular AMD. © 2013 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Aims: To investigate the association between diabetic retinopathy (DR) in type 2 diabetes mellitus and three polymorphisms of the receptor for advanced glycation end products (RAGE) gene, -429T/C, -374T/A and Gly82Ser. Methods: A literature search was conducted through PubMed and Web of Science (up to August 31, 2011). Pooled odds ratios (ORs) were estimated using fixed-effects (FE) and random-effects (RE) models in co-dominant, recessive and dominant models. A sensitivity analysis was performed by excluding invalid studies. Results: Six articles investigated the -429T/C polymorphism, 7 publications were associated with the -374T/A polymorphism and 5 studies were associated with Gly82Ser in DR. For the -429T/C variant, we found no significant difference between DR patients and those with diabetes without retinopathy. A significant association of allele A with DR was found in the recessive model for the -374T/A variant (RE OR = 0.64, 95% CI = 0.42-0.99, p = 0.05, p heterogeneity = 0.55). In the recessive and co-dominant models for the Gly82Ser polymorphism, the pooled ORs were positive in the fixed-effects model (FE OR = 2.89, 95% CI = 1.49-5.60, p = 0.002, p heterogeneity = 0.20; and FE OR = 3.45, 95% CI = 1.76-6.67, p = 0.0003, p heterogeneity = 0.07, respectively), but in the random-effects model the results were negative. Conclusions: Our research confirmed an association between the RAGE -374T/A polymorphism and retinopathy in subjects with type 2 diabetes and the -374AA allele was found to be a protective factor for type 2 diabetes. Otherwise, the RAGE Gly82Ser polymorphism might be considered a significant risk for DR in Asian populations. Copyright © 2012 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]