|
rs148060787
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These included a man with confluent drusen and retinal pigment epithelial detachments (variant in exon 6; T216I), a man with geographic atrophy and numerous soft drusen (variant in exon 10; L567F), a woman with drusen and retinal pigment epithelial alterations (variant in exon 10; L567F), a woman with drusen and retinal pigment epithelial alterations resembling bull's-eye maculopathy (variant in exon 4; E119Q), and a woman diagnosed with adult-onset foveomacular vitelliform dystrophy (variant in exon 4; A146K).
|
11713080 |
2001 |
|
rs1800995
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These included a man with confluent drusen and retinal pigment epithelial detachments (variant in exon 6; T216I), a man with geographic atrophy and numerous soft drusen (variant in exon 10; L567F), a woman with drusen and retinal pigment epithelial alterations (variant in exon 10; L567F), a woman with drusen and retinal pigment epithelial alterations resembling bull's-eye maculopathy (variant in exon 4; E119Q), and a woman diagnosed with adult-onset foveomacular vitelliform dystrophy (variant in exon 4; A146K).
|
11713080 |
2001 |
|
rs1805142
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These included a man with confluent drusen and retinal pigment epithelial detachments (variant in exon 6; T216I), a man with geographic atrophy and numerous soft drusen (variant in exon 10; L567F), a woman with drusen and retinal pigment epithelial alterations (variant in exon 10; L567F), a woman with drusen and retinal pigment epithelial alterations resembling bull's-eye maculopathy (variant in exon 4; E119Q), and a woman diagnosed with adult-onset foveomacular vitelliform dystrophy (variant in exon 4; A146K).
|
11713080 |
2001 |
|
rs281865275
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These included a man with confluent drusen and retinal pigment epithelial detachments (variant in exon 6; T216I), a man with geographic atrophy and numerous soft drusen (variant in exon 10; L567F), a woman with drusen and retinal pigment epithelial alterations (variant in exon 10; L567F), a woman with drusen and retinal pigment epithelial alterations resembling bull's-eye maculopathy (variant in exon 4; E119Q), and a woman diagnosed with adult-onset foveomacular vitelliform dystrophy (variant in exon 4; A146K).
|
11713080 |
2001 |
|
rs1061170
|
|
|
0.760 |
GeneticVariation |
BEFREE |
The CFH Y402H variant is strongly associated with both GA and CNV in the U.K. population.
|
16431947 |
2006 |
|
rs11200638
|
|
|
0.040 |
GeneticVariation |
BEFREE |
In addition, rs11200638 was significantly associated with soft confluent drusen, which are strongly immunolabeled with HTRA1 antibody in an AMD eye with GA similar to wet AMD.
|
17426452 |
2007 |
|
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 |
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 |
|
rs11200638
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The allelic association test for rs11200638 on the promoter of HTRA1 yielded p-values less than 10(-10) for geographic atrophy, less than 10(-16) for neovascularization, and less than 10(-19) for the pooled phenotypes (with an odds ration [OR] of 3.973; 95% confidence interval [CI] 2.928, 5.390).
|
18682806 |
2008 |
|
rs3775291
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The Phe variant (encoded by the T allele at rs3775291) was associated with protection against geographic atrophy (P=0.005).
|
18753640 |
2008 |
|
rs121918567
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To document the evolution of geographic atrophy in the peripherin/RDS Arg172Trp substitution, provide age-related estimates of visual acuity, and compare with other missense mutations with a similar phenotype (Arg142Trp, Arg172Gln, and Arg195Leu).
|
19262438 |
2009 |
|
rs1460548929
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To document the evolution of geographic atrophy in the peripherin/RDS Arg172Trp substitution, provide age-related estimates of visual acuity, and compare with other missense mutations with a similar phenotype (Arg142Trp, Arg172Gln, and Arg195Leu).
|
19262438 |
2009 |
|
rs151207349
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To document the evolution of geographic atrophy in the peripherin/RDS Arg172Trp substitution, provide age-related estimates of visual acuity, and compare with other missense mutations with a similar phenotype (Arg142Trp, Arg172Gln, and Arg195Leu).
|
19262438 |
2009 |
|
rs61755783
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To document the evolution of geographic atrophy in the peripherin/RDS Arg172Trp substitution, provide age-related estimates of visual acuity, and compare with other missense mutations with a similar phenotype (Arg142Trp, Arg172Gln, and Arg195Leu).
|
19262438 |
2009 |
|
rs61755792
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Total area of geographic atrophy in 18 affected individuals with the peripherin/RDS Arg172Trp substitution was measured from retinal photographs and plotted as a function of age.
|
19262438 |
2009 |
|
rs61755793
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To document the evolution of geographic atrophy in the peripherin/RDS Arg172Trp substitution, provide age-related estimates of visual acuity, and compare with other missense mutations with a similar phenotype (Arg142Trp, Arg172Gln, and Arg195Leu).
|
19262438 |
2009 |
|
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 |
|
rs11200638
|
|
|
0.040 |
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 |
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 |
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 |
|
rs3775291
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Toll-like receptor 3 C1234T may protect against geographic atrophy through decreased dsRNA binding capacity.
|
21712495 |
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 |
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 |
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 |