|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
However, weak correlations between 10 SNPs (CFH rs1329428 TT genotype, CFH rs3753394 CC genotype and T allele, CFH rs1410996 AA genotype, CFH rs800292 AA genotype, CFH rs800292 A allele, VEGF rs833061 TT genotype and C allele, VEGF rs2010963 CG genotype, VEGFR2 rs1531289 TT genotype, ARMS2 rs10490924 TT genotype, KCTD10 rs238104 GC genotype, rs1531289 T allele and ARMS2 rs10490924 T allele) and AMD were shown.
|
30696427 |
2019 |
|
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 |
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 |
In our patients, p.I62V, but not p.Y402H, was significantly associated with an increased risk of AMD.
|
29367644 |
2018 |
|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
To pool the results of published data regarding association of ARMS2/LOC387715 A69S, CFH Y402H and CFH I62V genotypes with age-related macular degeneration (AMD) with and without reticular pseudodrusen (RPD).
|
28593728 |
2018 |
|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Blood samples from all subjects were genotyped for major age-related macular degeneration (AMD)-associated single nucleotide polymorphisms (SNPs) the major AMD-associated SNPs; CFH Y402H rs1061170, CFH I62V rs800292, ARMS2 A69S rs10490924.
|
30596689 |
2018 |
|
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 |
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 |
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 |
Two variants in the complement factor H (CFH) gene, Y402H and I62V, are strongly associated with risk of AMD.
|
27647805 |
2017 |
|
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 |
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 |
Here we describe a novel complotype composed of CFB (rs4151667)-CFB (rs641153)-CFH (rs800292), which is strongly associated with both AMD disease status (p = 5.84*10(-13)) and complement activation levels in vivo (p = 8.31*10(-9)).
|
27241480 |
2016 |
|
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 |
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 |
Our results revealed that CFH polymorphisms I62V and Y402H might be associated with the susceptibility to AMD in Chinese population.
|
26045838 |
2015 |
|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
This study found significant association of SNPs rs529825, rs800292, rs203674 and rs1061170 in the CFH gene with susceptibility to AMD.
|
26152901 |
2015 |
|
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 |
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 |
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 |
This meta-analysis suggested that Val62Ile polymorphism was associated with susceptibility to AMD.
|
24440287 |
2014 |
|
rs800292
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Homozygosity for a sequence variant causing Y402H and I62V substitutions in the gene for complement factor H (CFH) is strongly associated with risk of AMD.
|
24550392 |
2014 |
|
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 |