|
rs10490924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Patients with GA were significantly older, with a higher prevalence of reticular pseudodrusen, bilateral involvement of advanced AMD and T-allele frequency of ARMS2 A69S compared with those with typical AMD and PCV; although there were no differences in the genetic and clinical characteristics among patients with GA and RAP.
|
26918864 |
2016 |
|
rs10490924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The ARMS2 variant rs10490924 was significantly more frequent in dt-GA than in 1000G individuals (Pcorrected < 0.01).
|
27149696 |
2016 |
|
rs10490924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Odds ratios, especially for the main risk polymorphisms in ARMS2 (rs10490924) and CFH (rs1061170), gained with increasing disease severity and bilateralism (exemplarily: rs1061170: unilateral early AMD: OR = 1.18; bilateral early AMD: OR = 1.20; unilateral intermediate AMD: OR = 1.28; bilateral intermediate AMD: OR = 1.39, unilateral geographic atrophy (GA): OR = 1.50; bilateral GA: OR = 1.71).
|
27257685 |
2016 |
|
rs10490924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Analyzing the currently largest dataset on GA lesion growth (N = 388), our findings suggest a significant and independent contribution of three factors on GA lesion growth including at least two genetic factors (ARMS2_rs10490924 [P < 0.00088] and C3_rs2230199 [P < 0.00015]) as well as one clinical component (presence of GA in the fellow eye [P < 0.00023]).
|
25962167 |
2015 |
|
rs10490924
|
|
T |
0.800 |
GeneticVariation |
GWASCAT |
In the analysis comparing participants with CNV to those with GA, a statistically significant association was observed at the ARMS2/HTRA1 locus (rs10490924; odds ratio [OR], 1.47; P = 4.3 × 10(-9)), which was confirmed in the replication samples (OR, 1.38; P = 7.4 × 10(-14) for combined discovery and replication analysis).
|
22705344 |
2012 |
|
rs10490924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Although genetic markers were associated significantly with 3-year CNV (CFH: Y402H; ARMS2: A69S) and GA incidence (CFH: Y402H), the inclusion of genetic factors in the models provided only marginal improvements in predictive performance.
|
22704140 |
2012 |
|
rs10490924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Comparing combined CNV-GA to GA and CNV only, patients with both had a higher frequency of at-risk alleles at both SNPs within the HTRA1 gene-rs10490924 (52.5%), rs11200638 (52.6%).
|
22699975 |
2012 |
|
rs10490924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
In this series, in patients with geographic atrophy or choroidal neovascularization in at least 1 eye, the ARMS2 A69S substitution strongly associated with geographic atrophy or choroidal neovascularization in the fellow eye.
|
22481475 |
2012 |
|
rs10490924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The frequency of the T allele of ARMS2/HTRA1 rs10490924 was significantly higher in participants with CNV than in those with geographic atrophy (OR, 1.37; 95% confidence interval, 1.21-1.54; P value = 4.2 × 10(-7)).
|
21122828 |
2011 |
|
rs10490924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Furthermore, there is compelling evidence that the risk attributable to the A69S variant differs between geographic atrophy and neovascular AMD.
|
22219653 |
2011 |
|
rs10490924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
For the single nucleotide polymorphism rs10490924 in LOC387715/ARMS2, there was a significant association of GA growth rate, both adjusted and unadjusted for initial lesion size, with the homozygous risk genotype as compared with the homozygous nonrisk genotype (unadjusted P = 0.002; Bonferroni-corrected P = 0.014) and for allelic association (Bonferroni-corrected P value = 0.011).
|
20381870 |
2010 |
|
rs10490924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We observed that homozygous risk genotypes (TT in rs10490924 and AA in rs11200638) were more strongly associated with AMD than the heterozygous genotypes (GT in rs10490924 and geographic atrophy in rs11200638) for both SNPs.
|
19491722 |
2009 |
|
rs10490924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
In a subset of 99 cases with pure bilateral GA, variants in CFH (Y402H), C3 (R102G), and ARMS2 (A69S) are associated with disease (P = 1.6x10(-9), 3.2x10(-3), and P = 2.6x10(-12), respectively) when compared to 612 unrelated healthy control individuals.
|
19823576 |
2009 |
|
rs10490924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We genotyped three SNPs, rs1061170 (exon 9, CFH), rs11200638 (HTRA1 promoter, -512 bp), and rs10490924 (6.6 kb upstream of HTRA1 in LOC387715/ARMS2) in 333 cases with advanced AMD (choroidal neovascularization [CNV] and geographic atrophy) and 171 age-matched examined controls.
|
18682806 |
2008 |
|
rs1061170
|
|
|
0.760 |
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
|
|
|
0.760 |
GeneticVariation |
BEFREE |
Odds ratios, especially for the main risk polymorphisms in ARMS2 (rs10490924) and CFH (rs1061170), gained with increasing disease severity and bilateralism (exemplarily: rs1061170: unilateral early AMD: OR = 1.18; bilateral early AMD: OR = 1.20; unilateral intermediate AMD: OR = 1.28; bilateral intermediate AMD: OR = 1.39, unilateral geographic atrophy (GA): OR = 1.50; bilateral GA: OR = 1.71).
|
27257685 |
2016 |
|
rs1061170
|
|
|
0.760 |
GeneticVariation |
BEFREE |
A statistically significant difference in allele frequencies between dt-GA and ndt-GA were found for CFH:rs1061170 and CFH:rs800292 (Pcorrected = 0.03).
|
27149696 |
2016 |
|
rs1061170
|
|
|
0.760 |
GeneticVariation |
BEFREE |
Although genetic markers were associated significantly with 3-year CNV (CFH: Y402H; ARMS2: A69S) and GA incidence (CFH: Y402H), the inclusion of genetic factors in the models provided only marginal improvements in predictive performance.
|
22704140 |
2012 |
|
rs1061170
|
|
|
0.760 |
GeneticVariation |
GWASCAT |
Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.
|
22705344 |
2012 |
|
rs1061170
|
|
|
0.760 |
GeneticVariation |
BEFREE |
We genotyped three SNPs, rs1061170 (exon 9, CFH), rs11200638 (HTRA1 promoter, -512 bp), and rs10490924 (6.6 kb upstream of HTRA1 in LOC387715/ARMS2) in 333 cases with advanced AMD (choroidal neovascularization [CNV] and geographic atrophy) and 171 age-matched examined controls.
|
18682806 |
2008 |
|
rs1061170
|
|
|
0.760 |
GeneticVariation |
BEFREE |
The CFH Y402H variant is strongly associated with both GA and CNV in the U.K. population.
|
16431947 |
2006 |
|
rs2230199
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Folate was significantly associated with lower risk of incident GA among subjects homozygous for the complement component 3 (C3) R102G rs2230199 nonrisk genotype (CC) (HR = 0.43; 95% CI: 0.27, 0.70; P = 0.0005) but not subjects carrying the risk allele (G) (P = 0.76).
|
26961928 |
2016 |
|
rs2230199
|
|
|
0.720 |
GeneticVariation |
GWASCAT |
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.
|
26691988 |
2016 |
|
rs2230199
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Analyzing the currently largest dataset on GA lesion growth (N = 388), our findings suggest a significant and independent contribution of three factors on GA lesion growth including at least two genetic factors (ARMS2_rs10490924 [P < 0.00088] and C3_rs2230199 [P < 0.00015]) as well as one clinical component (presence of GA in the fellow eye [P < 0.00023]).
|
25962167 |
2015 |
|
rs2230199
|
|
C |
0.720 |
GeneticVariation |
GWASCAT |
Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.
|
22705344 |
2012 |