CFH, complement factor H, 3075

N. diseases: 393; N. variants: 150
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9970784
rs9970784
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0242383
Disease:
Age related macular degeneration
0.700 GeneticVariation GWASDB Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. 23326517 2013
dbSNP: rs976333015
rs976333015
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C2931788
Disease:
Atypical Hemolytic Uremic Syndrome
0.020 GeneticVariation BEFREE To address this, we expressed human CFH mutants in <i>Pichia pastoris</i> We found that recombinant I62-CFH (protective against age-related macular degeneration) and V62-CFH functioned equivalently, matching or outperforming plasma-derived CFH, whereas R53H-CFH, linked to atypical hemolytic uremic syndrome (aHUS), was defective in C3bBb decay-accelerating activity (DAA) and factor I cofactor activity (CA). 28637873 2017
dbSNP: rs976333015
rs976333015
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C2931788
Disease:
Atypical Hemolytic Uremic Syndrome
0.020 GeneticVariation BEFREE Here, we investigate the consequences of aHUS-linked mutations (R53H and R78G) within the FH N-terminal complement control protein module that also carries the I62V variation linked to dense-deposit disease and age-related macular degeneration. 21270465 2011
dbSNP: rs976333015
rs976333015
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0242383
Disease:
Age related macular degeneration
0.010 GeneticVariation BEFREE Here, we investigate the consequences of aHUS-linked mutations (R53H and R78G) within the FH N-terminal complement control protein module that also carries the I62V variation linked to dense-deposit disease and age-related macular degeneration. 21270465 2011
dbSNP: rs976333015
rs976333015
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0268743
Disease:
Membranoproliferative Glomerulonephritis, Type II
0.010 GeneticVariation BEFREE Here, we investigate the consequences of aHUS-linked mutations (R53H and R78G) within the FH N-terminal complement control protein module that also carries the I62V variation linked to dense-deposit disease and age-related macular degeneration. 21270465 2011
dbSNP: rs948034701
rs948034701
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0242383
Disease:
Age related macular degeneration
0.010 GeneticVariation BEFREE This signal is independent of the previously reported common SNPs in C3 encoding p.Pro314Leu and p.Arg102Gly that associate with AMD. 24036950 2013
dbSNP: rs886039869
rs886039869
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C2749604
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
C 0.700 CausalMutation CLINVAR
dbSNP: rs800292
rs800292
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0242383
Disease:
Age related macular degeneration
0.900 GeneticVariation GWASDB Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. 23326517 2013
dbSNP: rs800292
rs800292
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0242383
Disease:
Age related macular degeneration
0.900 GeneticVariation BEFREE Rs12153855C and rs9391734A alleles could further increase the susceptibility to AMD in subjects with rs800292, rs11200638 and rs429608 risk alleles. 26861912 2016
dbSNP: rs800292
rs800292
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0242383
Disease:
Age related macular degeneration
0.900 GeneticVariation BEFREE Korean individuals with the LOC387715/ARMS2 rs10490924, and to a lesser extent, CFH rs800292 variants might be at a greater risk for the development of exudative AMD. 23289807 2013
dbSNP: rs800292
rs800292
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0242383
Disease:
Age related macular degeneration
G 0.900 GeneticVariation GWASCAT We confirmed the association of age-related maculopathy susceptibility 2 (ARMS2) rs10490924 (P=7.38 × 10<sup>-17</sup>), HTRA1 rs11200638 (P=5.47 × 10<sup>-17</sup>) and complement factor H gene (CFH) rs800292 (P=2.53 × 10<sup>-8</sup>) with neovascular AMD, all loci passing the genome-wide significance level (P<5.22 × 10<sup>-8</sup>). 28703135 2017
dbSNP: rs800292
rs800292
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0242383
Disease:
Age related macular degeneration
0.900 GeneticVariation BEFREE A significant interaction between the CETP SNP rs3764261 and the CFH SNP rs800292 existed in both neovascular AMD and PCV, the rs800292 G allele conferring a significantly increased risk of the diseases only in individuals carrying the risk allele T of rs3764261. 24393350 2014
dbSNP: rs800292
rs800292
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0242383
Disease:
Age related macular degeneration
0.900 GeneticVariation BEFREE Genotype distributions of ARMS2 (A69S) and CFH (I62V) in patients with CVH and type 1 CNV significantly differed from those of AMD cases (P = 0.0014 and 0.0098, respectively), but not from general population controls (P = 0.33 and 0.82, statistical power of 88.5% and 72.9%, respectively). 24781946 2014
dbSNP: rs800292
rs800292
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0242383
Disease:
Age related macular degeneration
0.900 GeneticVariation BEFREE However, the frequencies of the major alleles of three SNPs (-275C>T, I62V, and IVS15) were significantly different in patients and control subjects, and these SNPs were found to be separately associated with an elevated risk of exudative AMD. 18223247 2008
dbSNP: rs800292
rs800292
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0242383
Disease:
Age related macular degeneration
0.900 GeneticVariation BEFREE Four SNPs, ARMS2/HTRA1 rs10490924, rs11200638, and rs2736911, and CFH rs800292, showed association with exudative AMD. 26171855 2015
dbSNP: rs800292
rs800292
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0242383
Disease:
Age related macular degeneration
0.900 GeneticVariation BEFREE Combined heterozygous risk alleles of CFH rs800292 GA and FPR1 rs78488639 CA were posed to PCV (P=2.22 × 10(-4), OR=10.47), but not exudative AMD. 25277308 2014
dbSNP: rs800292
rs800292
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0242383
Disease:
Age related macular degeneration
0.900 GeneticVariation BEFREE Rs429608 inSKIV2L, rs800292 in complement factor H (CFH), rs10490924 in age-related maculopathy susceptibility2 (ARMS2) gene was genotyped using TaqMan technology. 24865191 2014
dbSNP: rs800292
rs800292
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0242383
Disease:
Age related macular degeneration
0.900 GeneticVariation BEFREE Association of ARMS2/LOC387715 A69S, CFH Y402H, and CFH I62V polymorphisms with retinal angiomatous proliferation compared with typical age-related macular degeneration: a meta-analysis. 28005184 2017
dbSNP: rs800292
rs800292
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0242383
Disease:
Age related macular degeneration
0.900 GeneticVariation BEFREE The presence or absence of RPD was studied among 408 patients with exudative AMD in at least one eye, and the clinical characteristics of those with RPD were investigated as well as genetic polymorphisms of ARMS2 A69S (rs10490924) and CFH I62V (rs800292). 24595987 2014
dbSNP: rs800292
rs800292
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0242383
Disease:
Age related macular degeneration
0.900 GeneticVariation BEFREE In our study, two SNPs of CFH and their haplotypes were associated significantly with AMD, and the adjusted odd ratios (ORs) were 2.45 (95% confidence interval [CI] 1.25-4.79) for rs800292 (genotype GG versus AA), 2.49 (95% CI 1.24-5.00) for rs1410996 (genotype TT versus CC), and 4.45 (95% CI 2.32-8.55) for haplotype block of rs800292-rs1410996 (haplotype G-C versus A-C), respectively. 23233260 2013
dbSNP: rs800292
rs800292
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0242383
Disease:
Age related macular degeneration
0.900 GeneticVariation BEFREE Subject I:2 with AMD carried both at-risk genotypes at HTRA1 rs11200638 and CFH rs800292. 19933189 2010
dbSNP: rs800292
rs800292
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0242383
Disease:
Age related macular degeneration
0.900 GeneticVariation BEFREE Analysis of AMD associated genetic variants included frequent polymorphisms at the complement factor H (CFH, MIM 134370) gene (rs1061170 [p.Y402H], rs800292 [p.I62V]), the complement factor H-related 3 (CFHR3, MIM 605336)/complement factor H-related 1 (CFHR1, MIM 134371) locus (rs6677604; proxy for ΔCFHR3/CFHR1; r(2) = 0.97) as well as the age-related maculopathy susceptibility 2 (ARMS2, MIM 611313) gene (rs10490924 [p.A69S]). 23103884 2013
dbSNP: rs800292
rs800292
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0242383
Disease:
Age related macular degeneration
0.900 GeneticVariation BEFREE Common polymorphisms in complement alternative pathway (AP) proteins C3 (C3(R102G)), factor B (fB(R32Q)), and factor H (fH(V62I)) are associated with age-related macular degeneration (AMD) and other pathologies. 21555552 2011
dbSNP: rs800292
rs800292
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0242383
Disease:
Age related macular degeneration
0.900 GeneticVariation GWASDB In addition to CFH (rs800292, P = 4.23 × 10(-15)) and ARMS2 (rs3750847, P = 8.67 × 10(-29)) loci, we identified two new susceptibility loci for exudative AMD: TNFRSF10A-LOC389641 on chromosome 8p21 (rs13278062, combined P = 1.03 × 10(-12), odds ratio = 0.73) and REST-C4orf14-POLR2B-IGFBP7 on chromosome 4q12 (rs1713985, combined P = 2.34 × 10(-8), odds ratio = 1.30). 21909106 2011
dbSNP: rs800292
rs800292
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0242383
Disease:
Age related macular degeneration
0.900 GeneticVariation BEFREE A significant association was also noted between a coding variant (rs800292, I62V) and AMD (P = 8.63 x 10(-6)). 17962488 2007