Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Geographic Atrophy
CUI: C1536085
Disease: Geographic Atrophy
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
Geographic Atrophy
CUI: C1536085
Disease: Geographic Atrophy
0.800 GeneticVariation BEFREE The ARMS2 variant rs10490924 was significantly more frequent in dt-GA than in 1000G individuals (Pcorrected < 0.01). 27149696 2016
Geographic Atrophy
CUI: C1536085
Disease: Geographic Atrophy
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
Geographic Atrophy
CUI: C1536085
Disease: Geographic Atrophy
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
Geographic Atrophy
CUI: C1536085
Disease: Geographic Atrophy
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
Geographic Atrophy
CUI: C1536085
Disease: Geographic Atrophy
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
Geographic Atrophy
CUI: C1536085
Disease: Geographic Atrophy
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
Geographic Atrophy
CUI: C1536085
Disease: Geographic Atrophy
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
Geographic Atrophy
CUI: C1536085
Disease: Geographic Atrophy
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
Geographic Atrophy
CUI: C1536085
Disease: Geographic Atrophy
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
Geographic Atrophy
CUI: C1536085
Disease: Geographic Atrophy
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
Geographic Atrophy
CUI: C1536085
Disease: Geographic Atrophy
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
Geographic Atrophy
CUI: C1536085
Disease: Geographic Atrophy
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
Geographic Atrophy
CUI: C1536085
Disease: Geographic Atrophy
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