Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
To understand the involvement of the Y402H polymorphism in AMD, we leverage methods from bioinformatics and computational biophysics to quantify structural and dynamical differences between SCR7 isoforms that contribute to decreased pattern recognition in SCR7<sup>H402</sup>.
|
30616835 |
2019 |
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The aim of this study was to compare the functional and morphological 1-year evolution of patients with exudative AMD treated with antivascular endothelial growth factor (VEGF) drugs with the CFH Y402H polymorphism in the Brazilian population.
|
28641277 |
2019 |
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Associations of microRNAs, Angiogenesis-Regulating Factors and CFH Y402H Polymorphism-An Attempt to Search for Systemic Biomarkers in Age-Related Macular Degeneration.
|
31731799 |
2019 |
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 |
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The major risk to develop AMD is the Y402H polymorphism of complement factor H (CFH).
|
31554875 |
2019 |
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
To evaluate the efficacy of using a CRISPR/Cas-mediated strategy to correct a common high-risk allele that is associated with age-related macular degeneration (AMD; rs1061170; NM_000186.3:c.1204T>C; NP_000177.2:p.His402Tyr) in the complement factor H <i>(CFH)</i> gene.
|
30996586 |
2019 |
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Our work provides a more comprehensive meta-analysis of studies investigating the effect of the CFH rs1061170 polymorphism on AMD risk.
|
30280493 |
2019 |
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
A human induced pluripotent stem cell (hiPSC) line was derived from peripheral blood mononuclear cells (PBMCs) from a patient with a clinical diagnosis of dry AMD carrying the CFH Y402H polymorphism.
|
31176916 |
2019 |
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
CFH Y402H polymorphism in Italian patients with age-related macular degeneration, retinitis pigmentosa, and Stargardt disease.
|
30285522 |
2018 |
Age related macular degeneration
|
|
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 |
Age related macular degeneration
|
|
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 |
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
In our patients, p.I62V, but not p.Y402H, was significantly associated with an increased risk of AMD.
|
29367644 |
2018 |
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 |
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 |
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 |
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 |
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 |
Age related macular degeneration
|
|
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 |
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 |
Age related macular degeneration
|
|
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 |
Age related macular degeneration
|
|
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 |
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
We have previously shown a strong association of C3 (R102G) and CFH Y402H with AMD whereas no association was found for CCL2-2518.
|
28095095 |
2017 |
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 |
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Pooled overall odds ratios for RAP/AMD were 1.15 (95% CI 0.60-2.18) for GT versus GG, 3.52 (95% CI 1.25-9.91) for TT versus GG ARMS2, 0.98 (95% CI 0.22-4.29) for GA versus AA, 1.00 (95% CI 0.25-4.02) for GG versus AA CFHI62V, 0.57 (95% CI 0.35-0.93) for CT versus TT CFH Y402H, and 0.40 (95% CI 0.22-0.74) for CC versus TT CFH Y402H.
|
28005184 |
2017 |
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 |