|
rs1061170
|
|
|
0.900 |
GeneticVariation |
BEFREE |
CFH Y402H polymorphism in Italian patients with age-related macular degeneration, retinitis pigmentosa, and Stargardt disease.
|
30285522 |
2018 |
|
rs1061170
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Comparison of above-mentioned ORs revealed statistically higher values for GT and TT genotypes of ARMS2 A69S compared with CFH Y402H genotypes (p = 0.011, p = 0.014, respectively).Our analysis showed stronger contribution of ARMS2 in AMD with RPD group versus AMD without RPD group, in comparison with CFH genotypes.
|
28593728 |
2018 |
|
rs1061170
|
|
|
0.900 |
GeneticVariation |
BEFREE |
This study suggests a high risk for incident early AMD in individuals with high plasma high-density lipoprotein cholesterol levels while confirming the high risk for progression from early to advanced AMD in heavy smokers and carriers of CFH Y402H at-risk genotypes.
|
29596588 |
2018 |
|
rs1061170
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In our patients, p.I62V, but not p.Y402H, was significantly associated with an increased risk of AMD.
|
29367644 |
2018 |
|
rs1061170
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We also review the literature on the role of other complement components in AMD pathobiologies, including C3a, C5a and the membrane attack complex (MAC), and on transgenic mouse models developed to interrogate in vivo the effects of the CFH Y402H polymorphism.
|
28928087 |
2018 |
|
rs1061170
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Correction: A 32 kb Critical Region Excluding Y402H in CFH Mediates Risk for Age-Related Macular Degeneration.
|
30571798 |
2018 |
|
rs1061170
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We found associations with nvAMD for <i>CFHY402H</i> variant (rs1061170) (OR=1.99, 95% CI 1.67 to 2.37, P=10<sup>-6</sup>), <i>ARMS2</i> (rs10490924) (OR=2.94, 95% CI 2.45 to 3.52, P=10<sup>-9</sup>), <i>C2</i> (rs547154) (OR=0.67, 95% CI 0.53 to 0.85, P=0.01), <i>ABCA1</i> (rs1883025) (OR=0.77, 95% CI 0.65 to 0.92, P=0.04) and an SNP near <i>VEGFA</i> (rs4711751) (OR=0.64, 95% CI 0.54 to 0.77, P=10<sup>-3</sup>).
|
29259020 |
2018 |
|
rs1061170
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Prevalence of AMD-associated genetic risk variants, complement factor H (CFH) rs1061170, age-related maculopathy susceptibility 2 (ARMS2) rs10490924, component 3 (C3) rs2230199, complement factor B (CFB) rs641153 and superkiller viralicidic activity 2-like (SKIV2L) rs429608 and 4-year progression data in a population-representative cohort (The Irish Longitudinal study on Ageing (TILDA)) were assessed.
|
29453225 |
2018 |
|
rs11200638
|
|
|
0.900 |
GeneticVariation |
BEFREE |
To our knowledge, this is the first time the association between rs11200638 and overall age-related macular degeneration has been reported in South America.
|
28846052 |
2018 |
|
rs11200638
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In this post hoc analysis of cross-sectional data from US participants in the Comparison of AMD Treatments Trials, genotyping was performed in 835 participants with TaqMan assays for the SNPs rs1061170 (Y402H variant in CFH), rs800292 (I62V variant in CFH), rs10490924 (A69S variant in ARMS2), rs11200638 (HTRA1), rs547154 (C2), rs2230199 (R102G variant in C3), rs10468017 (LIPC), and rs4151667 (L9H variant in CFB).
|
29801032 |
2018 |
|
rs2230199
|
|
G |
0.900 |
GeneticVariation |
GWASCAT |
Genome-wide analysis of disease progression in age-related macular degeneration.
|
29346644 |
2018 |
|
rs2230199
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Prevalence of AMD-associated genetic risk variants, complement factor H (CFH) rs1061170, age-related maculopathy susceptibility 2 (ARMS2) rs10490924, component 3 (C3) rs2230199, complement factor B (CFB) rs641153 and superkiller viralicidic activity 2-like (SKIV2L) rs429608 and 4-year progression data in a population-representative cohort (The Irish Longitudinal study on Ageing (TILDA)) were assessed.
|
29453225 |
2018 |
|
rs641153
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Studies that investigated associations between C2 (rs547154 and rs9332739), C3 (rs1047286), CFB (rs4151667 and rs641153), and CFH (rs551397 and rs2274700) polymorphisms and AMD were identified by searching PubMed, EMBASE, Web of Science, and Cochrane Library databases for articles published prior to January 1, 2018.
|
30179527 |
2018 |
|
rs641153
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Prevalence of AMD-associated genetic risk variants, complement factor H (CFH) rs1061170, age-related maculopathy susceptibility 2 (ARMS2) rs10490924, component 3 (C3) rs2230199, complement factor B (CFB) rs641153 and superkiller viralicidic activity 2-like (SKIV2L) rs429608 and 4-year progression data in a population-representative cohort (The Irish Longitudinal study on Ageing (TILDA)) were assessed.
|
29453225 |
2018 |
|
rs800292
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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 |
|
rs10490924
|
|
|
0.900 |
GeneticVariation |
BEFREE |
To evaluate effect modification, the association between tertiles (T) of xanthophyll intake and AMD was stratified by complement factor H (CFH) rs1061170 and age-related maculopathy susceptibility 2 (ARMS2) rs10490924 genotypes, as well as by median cutpoints of HDL biomarkers.
|
28332910 |
2017 |