PURPOSE: To explore phenotype-genotype correlations that may contribute to a better understanding of diabetic retinopathy (DR). PROCEDURES: An exploratory association study was performed to identify genetic variants associated with non-proliferative DR (NPDR) in 307 type 2 diabetic patients who were previously stratified into 3 different phenotypes of NPDR progression. The 307 patients were genotyped for 174 single nucleotide polymorphisms of 11 candidate genes (ACE, AGER, AKR1B1, ICAM1, MTHFR, NOS1, NOS3, PPARGC1A, TGFB1, TNF and VEGFA). RESULTS: Significant associations were observed for PPARGC1A rs16874120 with phenotype A (odds ratio, OR = 0.60, 95% confidence interval, CI 0.36-0.99), ICAM1 rs1801714 with phenotype B (OR = 3.32, 95% CI 1.05-10.50) and both PPARGC1A rs10213440 (OR = 2.00, 95% CI 1.07-3.73) and MTHFR rs1801133 (OR = 1.84, 95% CI 1.08-3.11) with phenotype C. CONCLUSIONS: RESULTS indicate that specific gene variants in ICAM1, PPARGC1A and MTHFR are associated with different NPDR phenotypes, being likely candidates to explain different disease mechanisms underlying the different phenotypes. This is the first study to show correlations between specific gene variants and NPDR phenotypes, opening new perspectives on DR. 2014 S. Karger AG, Basel
PURPOSE: To explore phenotype-genotype correlations that may contribute to a better understanding of diabetic retinopathy (DR). PROCEDURES: An exploratory association study was performed to identify genetic variants associated with non-proliferative DR (NPDR) in 307 type 2 diabeticpatients who were previously stratified into 3 different phenotypes of NPDR progression. The 307 patients were genotyped for 174 single nucleotide polymorphisms of 11 candidate genes (ACE, AGER, AKR1B1, ICAM1, MTHFR, NOS1, NOS3, PPARGC1A, TGFB1, TNF and VEGFA). RESULTS: Significant associations were observed for PPARGC1Ars16874120 with phenotype A (odds ratio, OR = 0.60, 95% confidence interval, CI 0.36-0.99), ICAM1rs1801714 with phenotype B (OR = 3.32, 95% CI 1.05-10.50) and both PPARGC1Ars10213440 (OR = 2.00, 95% CI 1.07-3.73) and MTHFRrs1801133 (OR = 1.84, 95% CI 1.08-3.11) with phenotype C. CONCLUSIONS: RESULTS indicate that specific gene variants in ICAM1, PPARGC1A and MTHFR are associated with different NPDR phenotypes, being likely candidates to explain different disease mechanisms underlying the different phenotypes. This is the first study to show correlations between specific gene variants and NPDR phenotypes, opening new perspectives on DR. 2014 S. Karger AG, Basel
Authors: Weihua Meng; Kaanan P Shah; Samuela Pollack; Iiro Toppila; Harry L Hebert; Mark I McCarthy; Leif Groop; Emma Ahlqvist; Valeriya Lyssenko; Elisabet Agardh; Mark Daniell; Georgia Kaidonis; Jamie E Craig; Paul Mitchell; Gerald Liew; Annette Kifley; Jie Jin Wang; Mark W Christiansen; Richard A Jensen; Alan Penman; Heather A Hancock; Ching J Chen; Adolfo Correa; Jane Z Kuo; Xiaohui Li; Yii-der I Chen; Jerome I Rotter; Ronald Klein; Barbara Klein; Tien Y Wong; Andrew D Morris; Alexander S F Doney; Helen M Colhoun; Alkes L Price; Kathryn P Burdon; Per-Henrik Groop; Niina Sandholm; Michael A Grassi; Lucia Sobrin; Colin N A Palmer Journal: Acta Ophthalmol Date: 2018-09-04 Impact factor: 3.761
Authors: Maria H Madeira; Inês P Marques; Sónia Ferreira; Diana Tavares; Torcato Santos; Ana Rita Santos; João Figueira; Conceição Lobo; José Cunha-Vaz Journal: Front Neurosci Date: 2021-12-21 Impact factor: 5.152