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Sandrina Nunes, Conceicao Lobo, Luísa Ribeiro, Isabel Pires, Rui Bernardes, Telmo Miranda, Maria Simões, Carlos Faro, Jose Cunha-Vaz; Patterns of Progression in Diabetic Retinopathy. Correlation between phenotypes and genotypes. Invest. Ophthalmol. Vis. Sci. 2013;54(15):1719.
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© ARVO (1962-2015); The Authors (2016-present)
To establish a correlation between phenotypes of non-proliferative diabetic retinopathy (NPDR) progression (phenotypes A, B and C) and different candidate genes in type 2 diabetic patients.
A population of 307 diabetic patients with NPDR, followed-up during a 2 years prospective study was classified in 3 different phenotypes of DR progression based on non-invasive methods, Color Fundus Photography (CFP) to assess microaneurysm turnover (MAT) and Optical Coherence Tomography (OCT) to measure Retinal Thickness (RT). Phenotype A was considered for MAT<=9 & Normal RT; Phenotype B for MAT<=9 & Increased RT; and Phenotype C for MAFR>9 & Normal or Increased RT. Twenty one (21) patients/eyes developed during the 2-year study clinically significant macular edema (CSME), 14 from Phenotype C, 5 from Phenotype B and 2 from Phenotype A. Eleven genes were selected from a list of candidate genes (ACE, AGER, AKR1B1, ICAM1, MTHFR, NOS-1, NOS-3, PPARGC1A, TGFB1, TNF-a, and VEGFA) and their distribution were analyzed for the 3 different phenotypes.
The distribution for the 3 phenotypes was respectively 54.1%, 23.4% and 22.5%. Statistically significant differences between phenotypes were found for ACE (rs34241302, rs4317 and rs4318, P<0.05) and NOS1 (rs1552228, P=0.012). When considering patients that developed CSME, statistically significant differences were found for ACE (rs12720737, rs35865660, rs4317 and rs4318, P<0.016), for NOS1 (rs41340250 and rs9658481, P=0.001), and MTHFR (rs7533315, P=0.029).
ACE, NOS1 and MTHFR were found to be associated with different phenotypes of DR progression and development of CSME. The identification of these phenotypes-genotypes correlations opens new perspectives for the management and the treatment of DR in type-2 diabetic patients.
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