|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
GWASDB |
Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
|
23326517 |
2013 |
|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Rs12153855C and rs9391734A alleles could further increase the susceptibility to AMD in subjects with rs800292, rs11200638 and rs429608 risk alleles.
|
26861912 |
2016 |
|
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 |
|
rs800292
|
|
Age related macular degeneration
|
G |
0.900 |
GeneticVariation
|
GWASCAT |
We confirmed the association of age-related maculopathy susceptibility 2 (ARMS2) rs10490924 (P=7.38 × 10<sup>-17</sup>), HTRA1 rs11200638 (P=5.47 × 10<sup>-17</sup>) and complement factor H gene (CFH) rs800292 (P=2.53 × 10<sup>-8</sup>) with neovascular AMD, all loci passing the genome-wide significance level (P<5.22 × 10<sup>-8</sup>).
|
28703135 |
2017 |
|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
A significant interaction between the CETP SNP rs3764261 and the CFH SNP rs800292 existed in both neovascular AMD and PCV, the rs800292 G allele conferring a significantly increased risk of the diseases only in individuals carrying the risk allele T of rs3764261.
|
24393350 |
2014 |
|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Genotype distributions of ARMS2 (A69S) and CFH (I62V) in patients with CVH and type 1 CNV significantly differed from those of AMD cases (P = 0.0014 and 0.0098, respectively), but not from general population controls (P = 0.33 and 0.82, statistical power of 88.5% and 72.9%, respectively).
|
24781946 |
2014 |
|
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 |
Four SNPs, ARMS2/HTRA1 rs10490924, rs11200638, and rs2736911, and CFH rs800292, showed association with exudative AMD.
|
26171855 |
2015 |
|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Combined heterozygous risk alleles of CFH rs800292 GA and FPR1 rs78488639 CA were posed to PCV (P=2.22 × 10(-4), OR=10.47), but not exudative AMD.
|
25277308 |
2014 |
|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Rs429608 inSKIV2L, rs800292 in complement factor H (CFH), rs10490924 in age-related maculopathy susceptibility2 (ARMS2) gene was genotyped using TaqMan technology.
|
24865191 |
2014 |
|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Association of ARMS2/LOC387715 A69S, CFH Y402H, and CFH I62V polymorphisms with retinal angiomatous proliferation compared with typical age-related macular degeneration: a meta-analysis.
|
28005184 |
2017 |
|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The presence or absence of RPD was studied among 408 patients with exudative AMD in at least one eye, and the clinical characteristics of those with RPD were investigated as well as genetic polymorphisms of ARMS2 A69S (rs10490924) and CFH I62V (rs800292).
|
24595987 |
2014 |
|
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 |
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 |
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 |
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
|
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 |
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 |
Next generation sequencing (NGS) showed polymorphism in CFH (p.V62I in SCR1) and THBD (p.A473V), already known as pathogenic for C3GN, as well as a mutation in C3 (p.R102G) associated only with age-related macular degeneration (AMD) so far.
|
29592796 |
2018 |
|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Patients were genotyped to identify major single nucleotide polymorphisms associated with AMD (CFH Y402, CFH I62V, and ARMS2 A69S).
|
27521170 |
2016 |
|
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
|
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 |
The <i>CFH</i> rs800292 G allele is reportedly a risk allele for AMD, whereas the A allele conferred risk for thicker choroid and CSC development.
|
29844195 |
2018 |
|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Their genetic susceptibility to AMD was significantly lower than that of neovascular AMD; ARMS2 rs10490924 (p = 0.029), CFH rs800292 (p = 0.013) and genetic risk score calculated from 11 AMD susceptibility genes (p = 3.8 × 10(-3)).
|
26542071 |
2015 |
|
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 |