Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 GeneticVariation BEFREE The aim of this study was to compare the functional and morphological 1-year evolution of patients with exudative AMD treated with antivascular endothelial growth factor (VEGF) drugs with the CFH Y402H polymorphism in the Brazilian population. 28641277 2019
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 GeneticVariation BEFREE In our patients, p.I62V, but not p.Y402H, was significantly associated with an increased risk of AMD. 29367644 2018
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 GeneticVariation BEFREE Pooled overall odds ratios for RAP/AMD were 1.15 (95% CI 0.60-2.18) for GT versus GG, 3.52 (95% CI 1.25-9.91) for TT versus GG ARMS2, 0.98 (95% CI 0.22-4.29) for GA versus AA, 1.00 (95% CI 0.25-4.02) for GG versus AA CFHI62V, 0.57 (95% CI 0.35-0.93) for CT versus TT CFH Y402H, and 0.40 (95% CI 0.22-0.74) for CC versus TT CFH Y402H. 28005184 2017
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 GeneticVariation BEFREE However, higher levels of CRP in the presence of C allele of Y402H might confer more risk for the development of exudative AMD. 27778189 2017
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 GeneticVariation BEFREE AMD individuals who had at least one copy of the C allele of rs1061170 had an increased risk of disease compared with cases with the T allele. 25612476 2016
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 GeneticVariation BEFREE CFH Y402H SNP might be protective for AMD in the Turkish population. 27404493 2016
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 GeneticVariation BEFREE Younger age of exudative AMD onset was associated with the homozygous AA genotype of IL-8 rs4073 (p = 0.009, Mann-Whitney U-test), CC genotype of CFH rs1061170 (p = 0.016), TT genotype of ARMS2 rs10490924 (p = 0.001) and with current smoking (p = 0.002). 26154559 2015
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 GeneticVariation BEFREE In conclusion, pharmacogenetics of CFH Y402H polymorphism may play a role in response to anti-VEGF treatment for neovascular AMD, especially for Caucasians. 26411831 2015
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 GeneticVariation BEFREE After multivariate adjustment, CFH Y402H and ARMS2 A69S polymorphisms were associated with very high risk for exudative AMD (OR = 6.21 and OR = 11.7, respectively, p < 0.0001). 24362810 2014
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 GeneticVariation BEFREE The elevated systemic levels of selected proinflammatory cytokines, including those representing products of inflammasome activation, were associated with the CC at-risk variant of the Y402H polymorphism and suggest that genetic factors regulate the inflammatory status in dry AMD patients. 24083687 2013
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 GeneticVariation BEFREE There was a trend for association between the CFH Y402H T allele ("low risk" for AMD, n = 6) and improvement. 24113783 2013
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 GeneticVariation BEFREE Genotypes of 3 polymorphisms in known AMD susceptibility loci (rs1061170 in complement factor H (CFH), rs11200638 in HTRA1 and rs1413711 in VEGF) were determined. 24080590 2013
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 GeneticVariation BEFREE In the present study, exudative AMD is not associated to serum VEGF165 levels; furthermore, our data does not establish a statistical link between VEGF165 and the CFH Y402H polymorphism. 21158586 2011
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 GeneticVariation BEFREE The joint effects for complement factor H (CFH) Y402H and 10q26 variants indicated an increased risk of exudative AMD. 20456446 2010
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 GeneticVariation BEFREE Our data did not show significant association between the CFH Y402H polymorphism and PDT treatment response for neovascular AMD; however, CRP genetic variants were associated with a positive response to PDT treatment for neovascular AMD. 19692124 2009
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 GeneticVariation BEFREE Sixty-nine patients being treated for neovascular AMD with PDT were genotyped for the CFH Y402H and LOC387715 A69S polymorphisms by allele-specific digestion of PCR products. 18292785 2009
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 GeneticVariation BEFREE The G allele of the C3 IVS2 rs2250656, but not other tested C3 SNPs of rs2230205, rs10411506, rs2230199, rs339392, and rs163913, was significantly associated with a reduced risk for AMD in the Chinese population (OR 0.605, 95% CI 0.39-0.93, p = 0.023), even after adjusting for age, gender, smoking status, CFH rs1061170, CFB rs4151667, and CFB rs641153 allele status (OR 0.58, 95% CI 0.35-0.96, p = 0.033). 19899988 2009
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 GeneticVariation BEFREE There was no significant difference in the incidence of CFH Y402H (P = 0.598) and HTRA1 rs11200638 (P = 0.290) between eyes with typical exudative AMD and with PCV. 18939352 2008
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 GeneticVariation BEFREE Y402H polymorphism which has been suggested to be a major risk factor of AMD in Caucasians was found to be only marginally associated with exudative AMD with low frequency, whereas three adjacent SNPs in the CFH gene were significantly associated with AMD in Koreans. 18223247 2008
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 GeneticVariation BEFREE After controlling for environmental risk factors, CFH and HTRA1 SNPs were independently associated with exudative AMD, with OR of 3.50 (1.45 - 8.45) for CT genotype in Y402H, 3.34 (1.33 - 8.36) for GG genotype in rs1410996 and 3.85 (1.58 - 9.42) for AA genotype in rs11200638 respectively. 19187590 2008
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 GeneticVariation BEFREE Genotyping for the Tyr402His variant was performed in 240 NVAMD patients (78.1+/-7 age range) and 118 controls (70.8+/-8.2 age range). 18852870 2008
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 GeneticVariation BEFREE The AMD-associated CFH Y402H and LOC387715 A69S variants were associated with differences in choroidal neovascular lesion size in this study. 18054635 2007
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 GeneticVariation BEFREE Binary logistic regression analysis binary logistic regression analysis revealed an odds ratio (OR) of 2.7 (95% confidence interval (CI): 1.1-6.8) for AMD among subjects heterozygous for the HTRA1 -625A allele compared to those with the wildtype genotype, when adjusted for CFH Y402H genotypes (p=0.034). 17679948 2007
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 GeneticVariation BEFREE Our data suggest that the CFH Y402H polymorphism is a major risk factor for exudative AMD in a Central European population. 17398321 2007
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 GeneticVariation BEFREE Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His. 16865697 2006