CFH, complement factor H, 3075

N. diseases: 393; N. variants: 150
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
0.200 GeneticVariation disease BEFREE CFH and ARMS2 risk alleles do not modify the response to the AREDS2 nutrient supplements with respect to the progression to late AMD (GA and neovascular AMD). 31358387 2019
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
0.200 GeneticVariation disease 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
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
0.200 GeneticVariation disease 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
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
0.200 GeneticVariation disease 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
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
0.200 GeneticVariation disease BEFREE Considering GA and CNV separately showed that the effect of CFH:rs10737680 was stronger for progression to CNV. 27832277 2016
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
0.200 GeneticVariation disease GWASCAT A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. 26691988 2016
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
0.200 GeneticVariation disease BEFREE In fact, we demonstrate that gene variants of CFH and CFB, as well as demographic risk factors, confer significant risk for GA progression (both rate of progression and relative growth) within a Spanish population. 24557084 2014
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
0.200 GeneticVariation disease BEFREE Early AMD lesion characteristics were assessed for association with GA incidence using eye-specific data and generalized estimating equation models adjusting for age, current smoking, and presence of risk alleles of the complement factor H (CFH) or age-related maculopathy susceptibility 2 (ARMS2) genes, genotyped or imputed using genome-wide scan data. 23706948 2013
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
0.200 GeneticVariation disease 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
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
0.200 GeneticVariation disease GWASCAT Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes. 22705344 2012
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
0.200 Biomarker disease BEFREE CFH confers more risk to the bilaterality of geographic atrophy, whereas HTRA1/LOC387715 contributes more to the bilaterality of choroidal neovascularization. 21402993 2011
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
0.200 GeneticVariation disease BEFREE Growth rates of GA calculated from digitized serial fundus photographs showed no association with variants in the CFH, C2, C3, APOE, or TLR3 genes. 20381870 2010
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
0.200 GeneticVariation disease BEFREE This study confirms that variants at CFH, C3, and ARMS2 confer significant risks for GA due to AMD. 19823576 2009
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
0.200 Biomarker disease BEFREE Our studies however show that both the HTRA1 and LOC387715/ARMS2 SNP appear to contribute equally to disease risk (both geographic atrophy and choroidal neovascularization) with no evidence of interaction with CFH. 18682806 2008
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
0.200 Biomarker disease BEFREE Association analysis of CFH polymorphisms suggest that CFH may play a role in the development of pigmentary abnormalities and may modify the progression along the PA/GA scale. 17591865 2007
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
0.200 GeneticVariation disease BEFREE The CFH Y402H variant is strongly associated with both GA and CNV in the U.K. population. 16431947 2006
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
0.200 GeneticVariation disease BEFREE To determine if the complement factor H gene (CFH) determines risk for development of geographic atrophy (GA). 16828512 2006