rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Correction: A 32 kb Critical Region Excluding Y402H in CFH Mediates Risk for Age-Related Macular Degeneration.
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30571798 |
2018 |
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The most important genetic associations in AMD involved the complement factor H (CFH) gene, which showed that possession of the variant Y402H polymorphism significantly increases the risk for AMD.
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17491602 |
2008 |
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
A Tyr402His variant in exon 9 in the complement factor H (CFH) gene was also significantly associated with ARM in the case-control allele (P<0.0001), case-control genotype (P<0.0001) and case-control family (P<0.0001) tests.
|
15930014 |
2005 |
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Comparison of ARMS2/LOC387715 A69S and CFH Y402H risk effect in wet-type age-related macular degeneration: a meta-analysis.
|
29423786 |
2019 |
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
However with the recent finding of the Tyr402His polymorphism in the complement factor H gene being implicated in AMD, we are about to witness a new wave of research in this disease.
|
17134647 |
2006 |
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
CFH Y402H CC accompanied a poor response, and TT accompanied a good response in this series of patients with AMD undergoing ranibizumab therapy.
|
24367156 |
2013 |
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The CC risk genotype of Y402H was significantly associated with increased AMD progression [odds ratio (OR) 2.43, 95% confidence interval (95% CI) 1.07-5.49] as was smoking (OR 2.28, 95% CI 1.26-4.12).
|
18203751 |
2008 |
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Mapping the genes for age-related macular degeneration (AMD) had not been successful until recent genome-wide association studies revealed Tyr402His in CFH and rs11200638 in HTRA1 as AMD-related genetic variants.
|
18316707 |
2008 |
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
To confirm association of the complement factor H allelic variant (CFH Y402H) and the LOC387715/HTRA1 (LOC387715 A69S) risk alleles with age-related macular degeneration (AMD).
|
18161619 |
2007 |
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
This variant's effect on AMD is statistically independent of CFH and is of similar magnitude to the effect of Y402H.
|
16642439 |
2006 |
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The aMeDi score was significantly associated with a lower risk of incident advanced AMD among subjects carrying the CFH Y402H nonrisk (T) allele (P-trend = 0.0004, P-interaction = 0.04).
|
26490493 |
2015 |
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
These associations appear to be independent of the association of ARM with the Y402H allele of complement factor H, which has previously been reported as a major susceptibility factor for ARM.
|
16080115 |
2005 |
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Among patients with neovascular AMD, the AMD risk alleles ARMS2 and HTRA1 were associated with an increased risk of pseudodrusen and the risk allele CFH Y402H was associated with lower risk of pseudodrusen, supporting findings from previous studies.
|
29801032 |
2018 |
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
FHL-1 is largely bound to Bruch's membrane through interactions with heparan sulfate, and we show that the common Y402H polymorphism in the CFH gene, associated with an increased risk of AMD, reduces the binding of FHL-1 to this heparan sulfate.
|
25305316 |
2014 |
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
However, the association with the CFH Y402H risk allele appeared to be stronger, whereas the association with smoking was less pronounced when compared to AMD as a whole.
|
22933840 |
2012 |
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The CFH Y402H polymorphism may account for a substantial proportion of AMD in individuals similar to those in the Rotterdam Study and may confer particular risk in the presence of environmental and genetic stimulators of the complement cascade.
|
16849663 |
2006 |
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The AMD-associated CFH Y402H and LOC387715 A69S variants were associated with differences in choroidal neovascular lesion size in this study.
|
18054635 |
2007 |
rs1061170
|
|
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 |
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
There was a trend for association between the CFH Y402H T allele ("low risk" for AMD, n = 6) and improvement.
|
24113783 |
2013 |
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
CFH Y402H genotypefrequencies differed significantly between AMD patients and healthy controls (1277 TT, 22.7%; 1277 TC, 53.3%; and 1277 CC, 22.7% in the AMD group; 1277 TT, 48.0%; 1277 TC, 38.7%; and 1277 CC, 13.3% in the control group) showing a P-value <0.005 (OR:2.920/3.811).No association was found between a positive C. pneumoniae titre and AMD (P=0.192), nor was any association found between C. pneumoniae and the CFH Y402H polymorphism.
|
19169230 |
2009 |
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The haplotype tagging Y402H polymorphism in the Complement Factor H gene (CFH) has consistently been associated with age-related macular degeneration, whereas conflicting results have been reported on its relationship with cardiovascular disease.
|
17869048 |
2007 |
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
To explore the association between polymorphisms in the complement component 3 (C3) gene and age-related macular degeneration (AMD), and to investigate the modifying effect of complement factor H (CFH) Y402H, LOC387715 A69S and smoking.
|
19168221 |
2009 |
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Individuals with the homozygous CFI rs10033900 TT genotype had a 2.9 [1.2-7.2]-fold increased risk, and those with the CFH Y402H GG genotype had a 2.2 [1.0-4.8]-fold higher risk of developing AMD compared with non-carriers.
|
21906714 |
2011 |
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
In addition to the well-known association with AMD, CFH rs1061170 is a significant genetic risk factor associated with choroidal thinning in normal eyes of the elderly population.
|
30596689 |
2018 |
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
In this study, we identified the strength of the CFH Y402H gene variant association in a UK AMD cohort and tested the hypothesis that this variant may influence the biological response of choroidal neovascularisation (CNV) following photodynamic therapy (PDT) for CNV.
|
17464302 |
2008 |