rs1061170, CFH

N. diseases: 72
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Geographic Atrophy
CUI: C1536085
Disease: Geographic Atrophy
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
Geographic Atrophy
CUI: C1536085
Disease: Geographic Atrophy
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
Geographic Atrophy
CUI: C1536085
Disease: Geographic Atrophy
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
Geographic Atrophy
CUI: C1536085
Disease: Geographic Atrophy
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
Geographic Atrophy
CUI: C1536085
Disease: Geographic Atrophy
0.760 GeneticVariation GWASCAT Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes. 22705344 2012
Geographic Atrophy
CUI: C1536085
Disease: Geographic Atrophy
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
Geographic Atrophy
CUI: C1536085
Disease: Geographic Atrophy
0.760 GeneticVariation BEFREE The CFH Y402H variant is strongly associated with both GA and CNV in the U.K. population. 16431947 2006