|
rs1057518955
|
|
TC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1557024919
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1217691063
|
|
|
0.040 |
GeneticVariation |
BEFREE |
In addition, history of retinopathy was associated with the MTHFR C677T mutation in patients with DPN.
|
23901246 |
2013 |
|
rs1217691063
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Four hundred and eighty adolescents were screened annually for retinopathy and microalbuminuria for a median of 4 yr. Molecular analysis for the polymorphisms 677C-->T, 1298A-->C in MTHFR, and 66A-->G in MTRR was performed.
|
18774994 |
2008 |
|
rs1217691063
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The relationship between C677T methylenetetrahydrofolate reductase gene polymorphism and retinopathy in type 2 diabetes: a meta-analysis.
|
15902512 |
2005 |
|
rs1217691063
|
|
|
0.040 |
GeneticVariation |
BEFREE |
One putative determinant of PAD is the 677C>T polymorphism in the gene encoding methylenetetrahydrofolate reductase (MTHFR), which has previously been found to associate with various diabetic complications including retinopathy, nephropathy, atherosclerosis and coronary heart disease.
|
16274479 |
2005 |
|
rs2070600
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The frequency of the SS genotype for the G82S polymorphism was 12.4% in the DR group and 6.6% in the NDR group; this difference was significant.G82S was associated with sRAGE levels.
|
24303504 |
2013 |
|
rs2070600
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We conclude that RAGE gene Gly82Ser, 1704G/T and 2184A/G polymorphisms are not associated with retinopathy development in the Malaysian population.
|
22427038 |
2012 |
|
rs2070600
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Six articles investigated the -429T/C polymorphism, 7 publications were associated with the -374T/A polymorphism and 5 studies were associated with Gly82Ser in DR. For the -429T/C variant, we found no significant difference between DR patients and those with diabetes without retinopathy.
|
22354095 |
2012 |
|
rs11549465
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The degree of retinopathy was correlated to the <i>HIF-1A</i> Pro582Ser polymorphism.
|
31214621 |
2019 |
|
rs104893768
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Here, we investigated the effect of pharmacological PERK inhibition on retinal disease process in the P23H-1 transgenic rat model of retinal degeneration.
|
29036441 |
2017 |
|
rs1416580204
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The frequency of the SS genotype for the G82S polymorphism was 12.4% in the DR group and 6.6% in the NDR group; this difference was significant.G82S was associated with sRAGE levels.
|
24303504 |
2013 |
|
rs104893768
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The Unfolded Protein Response (UPR) is implicated in the pathophysiology of several retinal disorders including ADRP in P23H Rho rats.
|
22432009 |
2012 |
|
rs1416580204
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We conclude that RAGE gene Gly82Ser, 1704G/T and 2184A/G polymorphisms are not associated with retinopathy development in the Malaysian population.
|
22427038 |
2012 |
|
rs699947
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We found a significant association between the A allele at rs699947 with DR (odds ratio = 1.84 (95% confidence interval = 1.28-2.66); P = 0.001 vs. noDR).
|
20444917 |
2010 |
|
rs699947
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Family-based analyses of severe retinopathy provide evidence of excess transmission of C at rs699947 (P = 0.029), T at rs3025021 (P = 0.013), and the C-T haplotype from both SNPs (P = 0.035).
|
17513698 |
2007 |
|
rs16139
|
|
|
0.020 |
GeneticVariation |
BEFREE |
These results suggest that the Leu7Pro polymorphism could be used to predict earlier onset of type 2 diabetes and retinopathy, and increased risk for diabetic nephropathy.
|
16705546 |
2006 |
|
rs11549465
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The P582S HIF-1alpha mutation was associated with type 2 diabetes (P = 0.0028) by a consistently higher level of transcriptional activity than wild type, especially under hypoxic condition (P = 0.012), but no association with retinopathy was detected.
|
16046581 |
2005 |
|
rs16139
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Leucine 7 to proline 7 polymorphism in the neuropeptide y gene is associated with retinopathy in type 2 diabetes.
|
10926322 |
2000 |
|
rs1800553
|
|
|
0.010 |
GeneticVariation |
BEFREE |
HOMOZYGOSITY FOR A NOVEL DOUBLE MUTANT ALLELE (G1961E/L857P) UNDERLIES CHILDHOOD-ONSET ABCA4-RELATED RETINOPATHY IN THE UNITED ARAB EMIRATES.
|
31318848 |
2019 |
|
rs61750420
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found that retinopathy in male and female PEX1-G844D mice was marked by an attenuated cone function and abnormal cone morphology early in life, with gradually decreasing rod function.
|
31254513 |
2019 |
|
rs768435443
|
|
|
0.010 |
GeneticVariation |
BEFREE |
HOMOZYGOSITY FOR A NOVEL DOUBLE MUTANT ALLELE (G1961E/L857P) UNDERLIES CHILDHOOD-ONSET ABCA4-RELATED RETINOPATHY IN THE UNITED ARAB EMIRATES.
|
31318848 |
2019 |
|
rs1801282
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These findings suggest no significant association of p.Pro12Ala polymorphism with retinopathy in tested type 2 diabetic retinopathy patients as compared to T2DM individuals take as controls.
|
27427939 |
2017 |
|
rs1805192
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These findings suggest no significant association of p.Pro12Ala polymorphism with retinopathy in tested type 2 diabetic retinopathy patients as compared to T2DM individuals take as controls.
|
27427939 |
2017 |
|
rs281874657
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The index case had the p.Q379X variant in COL4A5 and currently had renal impairment, (eGFR = 45 ml/min/1.73 m<sup>2</sup>), bilateral hearing loss, and central and peripheral retinopathies.
|
27485810 |
2017 |