Genetic Variants in ICAM1, PPARGC1A and MTHFR Are Potentially Associated with Different Phenotypes of Diabetic Retinopathy

Autor:	Carlos Faro, Sandrina Nunes, Luisa Ribeiro, José Cunha-Vaz, Tânia Duarte, Miguel Costa, Susana Carmona, Maria José Simões, Conceição Egas, Conceição Lobo
Rok vydání:	2014
Předmět:	Adult Male Oncology Candidate gene medicine.medical_specialty Genotyping Techniques Single-nucleotide polymorphism Polymorphism Single Nucleotide Internal medicine Diabetes mellitus medicine Humans Genetic Association Studies Methylenetetrahydrofolate Reductase (NADPH2) Aged Diabetic Retinopathy biology business.industry General Medicine Odds ratio Diabetic retinopathy Middle Aged Intercellular Adhesion Molecule-1 medicine.disease Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha Phenotype Sensory Systems Ophthalmology Diabetes Mellitus Type 2 Methylenetetrahydrofolate reductase biology.protein Female PPARGC1A business Transcription Factors
Zdroj:	Ophthalmologica. 232:156-162
ISSN:	1423-0267 0030-3755
DOI:	10.1159/000365229
Popis:	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.
Databáze:	OpenAIRE
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