|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
We identified a 32-kb region downstream of Y402H (rs1061170), shared by all three risk haplotypes, suggesting that this region may be critical for AMD development.
|
22022419 |
2011 |
|
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 |
Previously, we have shown a strong association between complement factor H (CFH) Y402H and AMD in the Finnish population.
|
19048105 |
2008 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
A sensitivity analysis of genetic variants known to be associated with late stage AMD showed that rs1061170 (p.Y402H) in the complement factor H (CFH) gene influences the association of Cer d18:1/16:0 with GA. To understand the possible influence of this genetic variant on ceramide levels, we established a cell-based assay to test the modulation of genes in the ceramide metabolism by factor H-like protein 1 (FHL-1), an alternative splicing variant of CFH that also harbors the 402 residue.
|
30071029 |
2018 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The Y402H polymorphism within the seventh short consensus repeat of FH was recently shown to be associated with age-related macular degeneration, the most common cause of irreversible blindness in the Western world.
|
17339482 |
2007 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Our data suggest that the CFH Tyr402His is not a major risk factor for overall early AMD in this Latino population, but may play a role in susceptibility to phenotypes of early AMD likely to progress to late AMD.
|
17198853 |
2007 |
|
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 |
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 |
AG genotype of CCL2-2518 in combination with TT genotype of CFH Y402H showed significant protective effect against AMD.
|
27316788 |
2016 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Our data demonstrates significant association between AMD and rs1061170 on CFH, rs10490924 on ARMS2 and rs11200638 on HTRA1 in Egyptian patients.
|
23362846 |
2013 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
To investigate whether the major genetic and environmental risk factors of age-related macular degeneration (AMD)-CFH Y402H and LOC387715 A69S and cigarette smoking-are also associated with polypoidal choroidal vasculopathy (PCV) and whether the associations of CFH Y402H and LOC387715 A69S with PCV are modified by smoking.
|
20688737 |
2010 |
|
rs1061170
|
|
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 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
To determine whether complement factor H (CFH Y402H) genotype influences bilateral involvement of age-related macular degeneration (AMD) lesions.
|
19822851 |
2009 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Y402H polymorphism which has been suggested to be a major risk factor of AMD in Caucasians was found to be only marginally associated with exudative AMD with low frequency, whereas three adjacent SNPs in the CFH gene were significantly associated with AMD in Koreans.
|
18223247 |
2008 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The c.1204T>C, p.Tyr402His allelic variant in the CFH gene is associated with a 3-fold increased risk for AMD.
|
17210858 |
2007 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Our study demonstrated that the presence of the Y402H polymorphism in complement factor H is significantly associated with increased susceptibility to early AMD in Taiwan Chinese populations and that the C allele frequency is low in these populations.
|
18784628 |
2009 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
To examine the association of current cigarette smoking and pack-years smoked with the incidence and progression of age-related macular degeneration (AMD) and to examine the interactions of current smoking and pack-years smoked with complement factor H (CFH, rs1061170) and age-related maculopathy susceptibility 2 (ARMS2, rs10490924) genotype.
|
24953792 |
2014 |
|
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 |
PTX3 was found to be present in the macula of donor eyes and the AMD-associated Y402H polymorphism altered the binding of FHL-1 to PTX3.
|
29374201 |
2018 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The CFH Y402H polymorphism is associated with PRPC, suggesting that AMD changes are not limited to the macula.
|
18067970 |
2008 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Our data showed that the CFH Y402H polymorphism is a risk factor for AMD in the North Indian population.
|
23922956 |
2013 |
|
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 |
The etiologic role in ARMD of A69S ARMS2 and Y402H CFH gene variants were confirmed in a Polish population for the first time.
|
22293892 |
2012 |
|
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 |
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 |