Baas, Dominique C. and Ho, Lintje and Tanck, Michael W. T. and Fritsche, Lars G. and Merriam, Joanna E. and Van het Slot, Ruben and Koeleman, Bobby P. C. and Gorgels, Theo G. M. F. and van Duijn, Cornelia M. and Uitterlinden, Andre G. and de Jong, Paulus T. V. M. and Hofman, Albert and ten Brink, Jacoline B. and Vingerling, Johannes R. and Klaver, Caroline C. W. and Dean, Michael and Weber, Bernhard H. F. and Allikmets, Rando and Hageman, Gregory S. and Bergen, Arthur A. B. (2012) Multicenter cohort association study of SLC2A1 single nucleotide polymorphisms and age-related macular degeneration. MOLECULAR VISION, 18 (72). pp. 657-674. ISSN 1090-0535,
Full text not available from this repository. (Request a copy)Abstract
Purpose: Age-related macular degeneration (AMD) is a major cause of blindness in older adults and has a genetically complex background. This study examines the potential association between single nucleotide polymorphisms (SNPs) in the glucose transporter 1 (SLC2A1) gene and AMD. SLC2A1 regulates the bioavailability of glucose in the retinal pigment epithelium (RPE), which might influence oxidative stress-mediated AMD pathology. Methods: Twenty-two SNPs spanning the SLC2A1 gene were genotyped in 375 cases and 199 controls from an initial discovery cohort (the Amsterdam-Rotterdam-Netherlands study). Replication testing was performed in The Rotterdam Study (the Netherlands) and study populations from Wurzburg (Germany), the Age Related Eye Disease Study (AREDS; United States), Columbia University (United States), and Iowa University (United States). Subsequently, a meta-analysis of SNP association was performed. Results: In the discovery cohort, significant genotypic association between three SNPs (rs3754219, rs4660687, and rs841853) and AMD was found. Replication in five large independent (Caucasian) cohorts (4,860 cases and 4,004 controls) did not yield consistent association results. The genotype frequencies for these SNPs were significantly different for the controls and/or cases among the six individual populations. Meta-analysis revealed significant heterogeneity of effect between the studies. Conclusions: No overall association between SLC2A1 SNPs and AMD was demonstrated. Since the genotype frequencies for the three SLC2A1 SNPs were significantly different for the controls and/or cases between the six cohorts, this study corroborates previous evidence that population dependent genetic risk heterogeneity in AMD exists.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | DEPENDENT DIABETES-MELLITUS; TRANSPORTER GLUT1 GENE; COMPLEMENT FACTOR-H; BLOOD-BRAIN-BARRIER; GLUCOSE-TRANSPORTER; HUMAN EYE; ENDOTHELIAL-CELLS; SERPING1 GENE; UNITED-STATES; SUSCEPTIBILITY; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 18 May 2020 08:47 |
| Last Modified: | 18 May 2020 08:47 |
| URI: | https://pred.uni-regensburg.de/id/eprint/19046 |
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