|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
DNA resequencing of the complement factor H gene within this haplotype revealed a common coding variant, Y402H, that significantly increases the risk for AMD with odds ratios between 2.45 and 5.57.
|
15761120 |
2005 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Significant association (P = 4.95 x 10(-10)) was identified within the regulation of complement activation locus and was centered over a tyrosine-402 --> histidine-402 protein polymorphism in the gene encoding complement factor H. Possession of at least one histidine at amino acid position 402 increased the risk of AMD 2.7-fold and may account for 50% of the attributable risk of AMD.
|
15761121 |
2005 |
|
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 |
Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration.
|
15895326 |
2005 |
|
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 |
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 |
We confirmed that the CFH Y402H</span> variant shows significant association to advanced AMD, with odds ratio of 2.39 in Icelandic patients (p = 5.9 x 10(-12)) and odds ratio of 2.14 in US patients from Utah (p = 2.0 x 10(-9)) with advanced AMD.
|
16300415 |
2006 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
These results suggest the contribution of the Y402H polymorphism of the CFH gene to exudative AMD susceptibility also in the French population.
|
16379025 |
2005 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The complement factor H (CFH) gene polymorphism Y402H (1277T-->C) has been associated with susceptibility to age-related macular degeneration (AMD).
|
16431947 |
2006 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The haplotype containing Y402H, which was previously reported to be associated with AMD, was only 4% in the control and case population, with a p value of 0.802.
|
16541016 |
2006 |
|
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 |
No case disease susceptibility to exudative ARMD was noted for rs1061170 (Y402H) (chi (2) = 3.19, P (corr) = 0.423), or other 12 single nucleotide polymorphisms (SNPs) whose frequency is greater than 0.05.
|
16710702 |
2006 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
A prospective assessment of the Y402H variant in complement factor H, genetic variants in C-reactive protein, and risk of age-related macular degeneration.
|
16723442 |
2006 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The number of risk alleles for Y402H was associated with advanced AMD, with odds ratios (OR) of 2.7 (95% confidence interval (CI) 1.8-3.8) for the CT heterozygous genotype and OR 7.4 (4.7-11.8) for the homozygous CC risk genotype, after controlling for demographic and behavioral risk factors.
|
16816528 |
2006 |
|
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 |
This study suggests that there are other yet unidentified genetic factors important in the pathogenesis of AMD that may mitigate the effects of c.1204T>C, p.Tyr402His variant.
|
16865697 |
2006 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
This study was conducted to investigate the association between the Y402H polymorphism in CFH and neovascular AMD in Chinese patients.
|
16877387 |
2006 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
We detected a strong association between the C/C-genotype compared to the T/T-genotype of Tyr402His polymorphism (first base of the Tyr-codon changes) of the CFH gene and AMD in the AMD cases compared to the non-AMD (p=8.86x10(-12)) or to blood donor controls (p=2.02x10(-13)).
|
16885922 |
2006 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
A meta-analysis of eight studies assessing association between the CFH Y402H polymorphism and AMD was performed.
|
16905558 |
2006 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The CFH polymorphism Tyr402His appears indicative of AMD pathogenesis.
|
16936080 |
2006 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration.
|
16936733 |
2006 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The C allele of Y402H represents a significant risk factor in individuals with AMD, and this effect is most pronounced in individuals with neovascular disease.
|
17003406 |
2006 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The frequency of the Tyr402His C allele was significantly higher in patients with AMD compared with controls (p(M-H)=0.0035).
|
17050575 |
2007 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Because the CRP-binding site in CFH lies within the domain containing the Y402H polymorphism, it is also possible that the AMD risk-conferring allele alters the binding properties of CFH, thereby leading to choroidal CRP deposition, contributing to AMD pathogenesis.
|
17079491 |
2006 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The AMD Tyr402His polymorphism is structurally located at a hotspot for several aHUS mutations.
|
17089378 |
2007 |