|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
We found association of eight common HF1 SNPs with AMD; two common missense variants exhibit highly significant associations (I62V, chi2 = 26.1 and P = 3.2 x 10(-7) and Y402H, chi2 = 54.4 and P = 1.6 x 10(-13)).
|
15870199 |
2005 |
|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Significant associations were detected for AMD with rs3753394 (p=0.003, p(corr)=0.018), rs800292 (p=0.00053, p(corr)=0.0032), and rs1329428 (p=0.00092, p(corr)=0.0028), p(corr) values obtained after adjustment for multicomparison.
|
17167412 |
2006 |
|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
A significant association was also noted between a coding variant (rs800292, I62V) and AMD (P = 8.63 x 10(-6)).
|
17962488 |
2007 |
|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
However, the frequencies of the major alleles of three SNPs (-275C>T, I62V, and IVS15) were significantly different in patients and control subjects, and these SNPs were found to be separately associated with an elevated risk of exudative AMD.
|
18223247 |
2008 |
|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Substitution of buried Val-62 with Ile (a factor H single nucleotide polymorphism potentially protective for age-related macular degeneration and dense deposit disease) causes rearrangements within the module 1 core and increases thermal stability but does not disturb the interface with module 2.
|
18252712 |
2008 |
|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
In summary, in the BMES population we confirmed the association between I62V and renal function, as measured by the estimated GFR, plus the association of Y402H with both early- and late-stage AMD.
|
18340363 |
2008 |
|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The TG haplotype for rs551397 and rs800292 was the major haplotype that conferred a significantly increased susceptibility to exudative AMD (P(corr) = 0.0001, OR = 1.91, 95% CI = 1.36-2.68).
|
18421087 |
2008 |
|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Subject I:2 with AMD carried both at-risk genotypes at HTRA1 rs11200638 and CFH rs800292.
|
19933189 |
2010 |
|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
This study showed that SNPs rs3753394 (P = 0.0276), rs800292 (P = 0.0266), rs1061170 (P = 0.00514), and rs1329428 (P = 0.0089), but not rs7535263, rs1410996, or rs2274700, in CFH were significantly associated with wet AMD in a mainland Han Chinese population.
|
20523265 |
2010 |
|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The CFH rs800292 showed significant associations with a reduced risk for exudative AMD.
|
20538655 |
2010 |
|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The I62V and A69S polymorphisms were associated with all three subtypes: tA</span>MD (P = 3.74 × 10(-18) and 1.37 × 10(-35), respectively), PCV (P = 3.18 × 10(-19) and 3.96 × 10(-18), respectively), and RAP (P = 0.034 and 2.49 × 10(-18), respectively).
|
20574013 |
2010 |
|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
GWASDB |
Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.
|
20861866 |
2010 |
|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Here, we investigate the consequences of aHUS-linked mutations (R53H and R78G) within the FH N-terminal complement control protein module that also carries the I62V variation linked to dense-deposit disease and age-related macular degeneration.
|
21270465 |
2011 |
|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Common polymorphisms in complement alternative pathway (AP) proteins C3 (C3(R102G)), factor B (fB(R32Q)), and factor H (fH(V62I)) are associated with age-related macular degeneration (AMD) and other pathologies.
|
21555552 |
2011 |
|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
An example is the polymorphism Ile62Val (rs800292 (A>G)) in the complement regulator Factor H gene which alters the susceptibility to age-related macular degeneration (AMD), with the Ile62 polymorphism protecting against AMD.
|
21899915 |
2012 |
|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
GWASDB |
In addition to CFH (rs800292, P = 4.23 × 10(-15)) and ARMS2 (rs3750847, P = 8.67 × 10(-29)) loci, we identified two new susceptibility loci for exudative AMD: TNFRSF10A-LOC389641 on chromosome 8p21 (rs13278062, combined P = 1.03 × 10(-12), odds ratio = 0.73) and REST-C4orf14-POLR2B-IGFBP7 on chromosome 4q12 (rs1713985, combined P = 2.34 × 10(-8), odds ratio = 1.30).
|
21909106 |
2011 |
|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
In addition to CFH (rs800292, P = 4.23 × 10(-15)) and ARMS2 (rs3750847, P = 8.67 × 10(-29)) loci, we identified two new susceptibility loci for exudative AMD: TNFRSF10A-LOC389641 on chromosome 8p21 (rs13278062, combined P = 1.03 × 10(-12), odds ratio = 0.73) and REST-C4orf14-POLR2B-IGFBP7 on chromosome 4q12 (rs1713985, combined P = 2.34 × 10(-8), odds ratio = 1.30).
|
21909106 |
2011 |
|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The CFH variants, I62V, Y402H, IVS1 and IVS10, known to associate strongly with AMD, did not show a significant association with the risk of developing RA despite a strong statistical power to detect such differences.
|
22059990 |
2011 |
|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
This was true for all AMD subtype analyses of both rs800292 (complement factor H) and rs10490924 (ARMS2).
|
22065928 |
2011 |
|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Furthermore, an independent association of C2/CFB variants was found for both typical AMD and PCV with age, sex, smoking, and genetic background of ARMS2 A69S and CFH I62V (vs. typical AMD: P = 0.0073, odds ratio [OR] = 0.47; vs. PCV: P = 0.0083, OR = 0.53).
|
22232432 |
2012 |
|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Four consistently replicated CFH single-nucleotide polymorphisms (SNPs) were genotyped: rs1061170 (Y402H), rs2274700, rs393955 and rs800292; their relationship with AMD prevalence was determined across the age range 48-86.
|
22936692 |
2012 |
|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Analysis of AMD associated genetic variants included frequent polymorphisms at the complement factor H (CFH, MIM 134370) gene (rs1061170 [p.Y402H], rs800292 [p.I62V]), the complement factor H-related 3 (CFHR3, MIM 605336)/complement factor H-related 1 (CFHR1, MIM 134371) locus (rs6677604; proxy for ΔCFHR3/CFHR1; r(2) = 0.97) as well as the age-related maculopathy susceptibility 2 (ARMS2, MIM 611313) gene (rs10490924 [p.A69S]).
|
23103884 |
2013 |
|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
In our study, two SNPs of CFH and their haplotypes were associated significantly with AMD, and the adjusted odd ratios (ORs) were 2.45 (95% confidence interval [CI] 1.25-4.79) for rs800292 (genotype GG versus AA), 2.49 (95% CI 1.24-5.00) for rs1410996 (genotype TT versus CC), and 4.45 (95% CI 2.32-8.55) for haplotype block of rs800292-rs1410996 (haplotype G-C versus A-C), respectively.
|
23233260 |
2013 |
|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The association of SKIV2L rs429608 with neovascular AMD remained significant after adjusting for CFH rs800292 and HTRA1 rs11200638.
|
23260260 |
2013 |
|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Korean individuals with the LOC387715/ARMS2 rs10490924, and to a lesser extent, CFH rs800292 variants might be at a greater risk for the development of exudative AMD.
|
23289807 |
2013 |