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PMID:22509097
Citation |
Baas, DC, Ho, L, Tanck, MW, Fritsche, LG, Merriam, JE, van het Slot, R, Koeleman, BP, Gorgels, TG, van Duijn, CM, Uitterlinden, AG, de Jong, PT, Hofman, A, ten Brink, JB, Vingerling, JR, Klaver, CC, Dean, M, Weber, BH, Allikmets, R, Hageman, GS and Bergen, AA (2012) Multicenter cohort association study of SLC2A1 single nucleotide polymorphisms and age-related macular degeneration. Mol. Vis. 18:657-74 |
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Abstract |
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. |
Links | |
Keywords |
Aged; Aged, 80 and over; Case-Control Studies; Cohort Studies; European Continental Ancestry Group; Eye Proteins/genetics; Female; Gene Frequency; Genetic Association Studies; Germany/epidemiology; Glucose Transporter Type 1/genetics; Haplotypes; Heterozygote; Homozygote; Humans; Linkage Disequilibrium; Macular Degeneration/epidemiology; Macular Degeneration/genetics; Male; Middle Aged; Netherlands/epidemiology; Phenotype; Polymorphism, Single Nucleotide; United States/epidemiology |
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Significance
Annotations
Gene product | Qualifier | GO Term | Evidence Code | with/from | Aspect | Extension | Notes | Status |
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GO:0055085: transmembrane transport |
ECO:0000314: |
P |
Firgure 1: all the 22 SNPs in the SLC2A1 gene with minor allele frequency |
complete | ||||
See also
References
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