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rs1555038029
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|
A |
0.700 |
CausalMutation |
CLINVAR |
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|
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rs121434491
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Increased autofluorescence corresponding to the drusen was detected in the R345W mutation patients.
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25111685 |
2014 |
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rs121434491
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The hallmark of DHRD/ML is the formation of drusen at an early age, and gene targeted Efemp1(R345W/R345W) mice develop extensive basal deposits.
|
23943789 |
2014 |
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rs121434491
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Laser clearance of drusen deposit in patients with autosomal dominant drusen (p.Arg345Trp in EFEMP1).
|
23036572 |
2013 |
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rs121434491
|
|
|
0.070 |
GeneticVariation |
BEFREE |
To determine (1) clinical features that distinguish maculopathy due to the R345W substitution in fibulin-3 from other forms of inherited or early-onset drusen, (2) the phenotypic variability, and (3) the extent of retinal disease in those with a positive molecular diagnosis.
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16799055 |
2006 |
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rs121434491
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The Arg345Trp mutation on exon 10 of the EGF-containing fibulin-like extracellular matrix protein 1 (EFEMP1) gene causes two clinical phenotypes of early onset drusen (Doyne honeycomb retinal dystrophy and Malattia Leventinese), yet does not appear to be involved in other early onset drusen phenotypes or typical AMD.
|
15218514 |
2005 |
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rs121434491
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The Arg345Trp disease-associated allele of the EFEMP1 gene does not appear to be associated with cases of early onset drusen that fall outside the diagnosis of malattia leventinese or Doyne honeycomb retinal dystrophy, nor does it appear to play a role in familial age-related macular degeneration.
|
12427233 |
2002 |
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rs121434491
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Dominant radial drusen and Arg345Trp EFEMP1 mutation.
|
11384588 |
2001 |
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rs10490924
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The ARMS2 rs10490924 T allele was associated with increased drusen volume in subjects with AMD (multivariable adjusted OR1.54, 95% CI 1.08, 2.19).
|
30154521 |
2018 |
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rs10490924
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Multivariate analyses identified a significant association in serum calcium level (odds ratio [OR] = 0.932, P = 1.05 × 10(-3)), ARMS2 A69S (rs10490924) genotype (OR = 1.046, P < 0.001), Chlamydia pneumoniae IgG (OR = 1.020, P = 0.0440), and age (OR = 1.013, P < 0.001) for large drusen.
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25792034 |
2015 |
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rs10490924
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|
|
0.050 |
GeneticVariation |
BEFREE |
Factors associated with a 15-year incidence of medium drusen were assessed using discrete logistic regression models after adjusting for age, sex, smoking status, serum lipid levels, systemic and dietary factors, and CFH rs1061170 and ARMS2 rs10490924 polymorphisms.
|
25838066 |
2015 |
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rs1061170
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Factors associated with a 15-year incidence of medium drusen were assessed using discrete logistic regression models after adjusting for age, sex, smoking status, serum lipid levels, systemic and dietary factors, and CFH rs1061170 and ARMS2 rs10490924 polymorphisms.
|
25838066 |
2015 |
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rs10490924
|
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|
0.050 |
GeneticVariation |
BEFREE |
Current smoking at baseline predicted higher reticular drusen incidence (OR 2.1, 95% CI 1.0-4.5) after adjusting for age, sex, CFH-rs1061170 and ARMS2-rs10490924 polymorphisms.
|
24332537 |
2014 |
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rs1061170
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Current smoking at baseline predicted higher reticular drusen incidence (OR 2.1, 95% CI 1.0-4.5) after adjusting for age, sex, CFH-rs1061170 and ARMS2-rs10490924 polymorphisms.
|
24332537 |
2014 |
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rs1061170
|
|
|
0.050 |
GeneticVariation |
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 |
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rs10490924
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The polymorphisms rs10664316 and rs1049331 were associated with a decreased risk of poor visual acuity during follow-up and at diagnosis; rs2672598 and rs2293870 were associated with a decreased risk of RPE hyperpigmentation; rs10664316 was associated with a decreased risk of RPE hyperpigmentation with large drusen in the study eye, but an increased risk of large drusen in the fellow eye; rs11200638 was associated with an increased risk of larger CNV; rs10490924 and rs11200638 were associated with younger age of diagnosis.
|
19796758 |
2009 |
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rs1061170
|
|
|
0.050 |
GeneticVariation |
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 |
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rs1061170
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The CFH Y402H polymorphism showed a genotype-phenotype association for some drusen features.
|
18211923 |
2008 |
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rs11200638
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The polymorphisms rs10664316 and rs1049331 were associated with a decreased risk of poor visual acuity during follow-up and at diagnosis; rs2672598 and rs2293870 were associated with a decreased risk of RPE hyperpigmentation; rs10664316 was associated with a decreased risk of RPE hyperpigmentation with large drusen in the study eye, but an increased risk of large drusen in the fellow eye; rs11200638 was associated with an increased risk of larger CNV; rs10490924 and rs11200638 were associated with younger age of diagnosis.
|
19796758 |
2009 |
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rs11200638
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Unlike in the Caucasian population, the risk allele of rs11200638 was not associated with drusen in our Chinese population.
|
17904186 |
2007 |
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rs570618
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two SNPs at the CFH locus, rs10922109 and rs570618, were associated with the d</span>rusen area in the Early Treatment Diabetic Retinopathy Study Report (ETDRS) grid (P = 2.29 × 10<sup>-11</sup> and P = 3.20 × 10<sup>-9</sup>, respectively) and the center subfield (P = 1.24 × 10<sup>-9</sup> and P = 6.68 × 10<sup>-8</sup>, respectively).
|
29096998 |
2018 |
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rs121913059
|
|
|
0.010 |
GeneticVariation |
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 |
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rs641153
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The CFB (R32Q) polymorphism was associated with AMD characterized by small drusen only, and appeared to be protective of large drusen (OR 0.48/0.45) and of larger drusen covered area (OR 0.34).
|
23373431 |
2014 |
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rs10468017
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Controlling for demographic and behavioral factors and other SNPs, the TT genotype of rs10468017 in LIPC was associated with decreased risk of progression from large drusen to NV (HR = 0.57, P = 0.04) and tended to reduce the risk of progression from normal to intermediate drusen (HR = 0.72, P = 0.07).
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22247473 |
2012 |
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rs1883025
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|
|
0.010 |
GeneticVariation |
BEFREE |
The SNP rs1883025 (T allele) in ABCA1 was associated with decreased risk of progression from normal to intermediate drusen (HR per allele = 0.82 per allele, P = 9.7 × 10(-3)) and from intermediate drusen to large drusen (HR per allele = 0.77, P = 5.2 × 10(-3)).
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22247473 |
2012 |