|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Complement factor H polymorphism T1277C (tyrosine-402 --> histidine-402) is strongly associated with both dry and wet AMD and points to a possible role for inflammation in the pathogenesis of AMD.
|
17306880 |
2007 |
|
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.
|
30571798 |
2018 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Defective complement control of factor H (Y402H) and FHL-1 in age-related macular degeneration.
|
17399790 |
2007 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Deletion of both copies of CFHR3 and CFHR1 decreased the odds of having AMD eightfold (95% CI 2-36) and always occurred on a protective haplotype, never on the risk haplotype tagged by the Y402H risk allele in CFH.
|
19553609 |
2009 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Differential binding to C-reactive protein, thus, does not explain association of the Y402H polymorphism with macular degeneration.
|
18786923 |
2008 |
|
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 |
Early identification of individuals with genetic risk variants CFH p.Y402H and ARMS2 p.A69S is clinically important for the definition of AMD status.
|
22706242 |
2012 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Exploratory analyses observed that the association between xanthophyll intake and AMD varied statistically significantly by CFH rs1061170 genotype among Caucasians (p for interaction = 0.045) but not African Americans.
|
28332910 |
2017 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Female sex and the presence of both risk alleles of CFH-rs1061170 or ARMS2-rs10490924 were independently associated with early AMD incidence, whereas current smoking and presence of ≥1 risk allele of CFH-rs1061170 or ARMS2-rs10490924 were associated with late AMD incidence.
|
26383995 |
2015 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
FH comprises 20 short complement regulator (SCR) domains, including eight glycans, and its Y402H polymorphism predisposes those who carry it to age-related macular degeneration.
|
30217822 |
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 |
For the CFH gene, the frequency of the previously reported Tyr402His variant was not significantly higher in the AMD group than in the control group (P = .31).
|
17157600 |
2006 |
|
rs1061170
|
|
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 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Furthermore, the HS binding site in CCP6-8, which is affected by the AMD-associated Y402H polymorphism, plays the principal role in host tissue recognition in the human eye, whereas the CCP19-20 region makes the major contribution to the binding of CFH in the human kidney.
|
23365078 |
2013 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Genotypes of 3 polymorphisms in known AMD susceptibility loci (rs1061170 in complement factor H (CFH), rs11200638 in HTRA1 and rs1413711 in VEGF) were determined.
|
24080590 |
2013 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Genotyping for the Tyr402His variant was performed in 240 NVAMD patients (78.1+/-7 age range) and 118 controls (70.8+/-8.2 age range).
|
18852870 |
2008 |
|
rs1061170
|
|
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 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Homozygotes of CFH Y402H with dietary intake of zinc in the highest tertile reduced their hazard ratio of early AMD from 2.25 to 1.27.
|
21670343 |
2011 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Homozygous carriers of the Y402H risk variant in the complement factor H (CFH) gene developed neovascular AMD 2.8 (95% CI, 0.5-5.0) years earlier (P = .02).
|
25695752 |
2015 |
|
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 |
However, higher levels of CRP in the presence of C allele of Y402H might confer more risk for the development of exudative AMD.
|
27778189 |
2017 |
|
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 |
Importantly, the Y402H polymorphism impairs the binding of CFH to the HS in Bruch's membrane, which could result in increased complement activation and chronic local inflammation (in 402H individuals) and thereby contribute to AMD pathology.
|
24335201 |
2014 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
In a German cohort of 530 AMD patients, we now show that protection against AMD conferred by ΔCFHR3/CFHR1 is independent of the effects of rs2274700 and rs1061170 (CFH:Y402H).
|
20843825 |
2010 |
|
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 |