Drusen
|
0.200 |
Biomarker
|
disease |
BEFREE |
Genetic changes in and around several complement system genes, including the CFH, contribute to the formation of drusen and progression of AMD.
|
31456517 |
2019 |
Drusen
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Drusen area ≥ the median was independently associated with a higher number of risk alleles for CFH risk score and risk variants in C3 and ARMS2/HTRA1 compared with eyes with no measurable drusen.
|
31658355 |
2019 |
Drusen
|
0.200 |
Biomarker
|
disease |
BEFREE |
Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen.
|
30905644 |
2019 |
Drusen
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Patients with an extensive drusen area, drusen with crystalline appearance, and drusen nasal to the optic disc are more likely to have a rare variant in the CFH gene.
|
28859202 |
2017 |
Drusen
|
0.200 |
Biomarker
|
disease |
BEFREE |
In this cross-sectional study, a higher intake of vitamin A increased the risk of macular drusen >63 μm in subjects with CFHY402H.
|
27502478 |
2016 |
Drusen
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Missense variant CFH 1:196646753 (C192F) segregated perfectly within a family characterized by advanced AMD and drusen temporal to the macula.
|
27572114 |
2016 |
Drusen
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Drusen were present but less prominent in the young person with atypical uremic syndrome due to a heterozygous CFH mutation.
|
26915021 |
2016 |
Drusen
|
0.200 |
Biomarker
|
disease |
BEFREE |
Older age and the presence of CFH and ARMS2 risk alleles are 2 main risk factors associated with the development of medium drusen.
|
25838066 |
2015 |
Drusen
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The typical phenotype of the complement factor H R1210C rare variant is associated with extensive drusen accumulation in the macula and throughout the fundus, as well as with a high risk for having advanced disease.
|
25880396 |
2015 |
Drusen
|
0.200 |
Biomarker
|
disease |
BEFREE |
We also show that FHL-1 is retained in drusen whereas FH coats the periphery of the lesions, perhaps inhibiting their clearance.
|
25305316 |
2014 |
Drusen
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Compared to healthy eyes, the CFH risk variant was more common in eyes with early as well as advanced drusen features, while the ARMS2 variant was only associated with advanced drusen.
|
24970616 |
2014 |
Drusen
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Associations between smoking, fish consumption, serum lipids, systemic and dietary factors, the CFH single nucleotide polymorphism (SNP) rs1061170 and ARMS2 SNP rs10490924, and the 15-year incidence of reticular drusen were analyzed in discrete logistic regression models.
|
24332537 |
2014 |
Drusen
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To investigate the relationship between systemic cytokines, the complement factor H (CFH) Y402H polymorphism, drusen load, and subfoveal choroidal thickness in patients with dry age-related macular degeneration (AMD).
|
24083687 |
2013 |
Drusen
|
0.200 |
Biomarker
|
disease |
BEFREE |
Researchers have found components of the complement alternative pathway inside drusen and Bruch's membrane of AMD patients, underlying a possible important role of complement factor H in the pathogenesis of AMD.
|
22838951 |
2012 |
Drusen
|
0.200 |
Biomarker
|
disease |
BEFREE |
OxPLs colocalize with CFH in drusen in the human AMD eye.
|
22875704 |
2012 |
Drusen
|
0.200 |
Biomarker
|
disease |
BEFREE |
None of the SNPs in CFH showed a significant association with drusen, and none of the SNPs in CFH, C2, CFB, and C3 showed a significant association with either wet AMD or drusen in the cohort of this study.
|
20523265 |
2010 |
Drusen
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A FH Tyr402His polymorphism in SCR-7 is associated with age-related macular degeneration (AMD) and leads to deposition of complement in drusen.
|
20711705 |
2010 |
Drusen
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Among individuals with no or minimal maculopathy, CFH variants were associated with more than a twofold increased risk of drusen and reticular pigment.
|
18936151 |
2009 |
Drusen
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The CFH Y402H polymorphism showed a genotype-phenotype association for some drusen features.
|
18211923 |
2008 |
Drusen
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This supports an autosomal-recessive disease model in which individuals who carry a CFH mutation on one allele and the Tyr402His variant on the other allele develop drusen.
|
18252232 |
2008 |
Drusen
|
0.200 |
Biomarker
|
disease |
BEFREE |
These observations indicate a mechanism for the progressive self-association of FH and may be relevant for complement regulation and the formation of drusen deposits that are associated with age-related macular degeneration.
|
18054958 |
2008 |
Drusen
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Our results, reproduced in three populations that represent the spectrum of AMD cases, provide evidence that the CFH gene is associated with drusen as well as with advanced AMD.
|
18043728 |
2007 |
Drusen
|
0.200 |
Biomarker
|
disease |
BEFREE |
Variants within CFH and LOC387715/HTRA1 may contribute to the increased risk of late AMD largely through their impact on precursors, such as drusen and/or other RPE/Bruch's membrane changes.
|
17327825 |
2007 |
Drusen
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Inherited variation in the complement factor H gene is a major risk factor for drusen in dry AMD.
|
17053108 |
2006 |
Drusen
|
0.200 |
Biomarker
|
disease |
BEFREE |
Here, we show that factor H (HF1), the major inhibitor of the alternative complement pathway, accumulates within drusen and is synthesized by the retinal pigmented epithelium.
|
15870199 |
2005 |