|
BASAL LAMINAR DRUSEN (disorder)
|
|
0.720 |
CausalMutation
|
CLINVAR |
|
|
|
|
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
|
|
0.700 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
1093 patients with exudative AMD and 396 controls have been recruited and genotyped for the Y402H of CFH, rs10490924 of ARMS2 and T280M of the CX3CR1 gene.
|
21621535 |
2011 |
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Age-related macular degeneration is a leading form of blindness in Western countries and is associated with a common SNP (rs 1061170/Y402H) in the Factor H gene, which encodes the two complement inhibitors Factor H and FHL1.
|
21930971 |
2011 |
|
Age related macular degeneration
|
|
0.900 |
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
|
|
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 |
|
Exudative age-related macular degeneration
|
|
0.800 |
GeneticVariation
|
BEFREE |
Y402H complement factor H polymorphism associated with exudative age-related macular degeneration in the French population.
|
16379025 |
2005 |
|
Age related macular degeneration
|
|
0.900 |
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
|
|
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 |
|
Retinal angiomatous proliferation
|
|
0.020 |
GeneticVariation
|
BEFREE |
Y402H was associated with tAMD (P = 3.00 × 10(-5)) and with PCV (P = 9.73 × 10(-5)), but no association was found with RAP, possibly because of the small sample size and the rare minor allele.
|
20574013 |
2010 |
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
rs1061170 might be associated with treatment response of neovascular AMD, especially for the anti-VEGF agents.
|
22905135 |
2012 |
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Y402H polymorphism in complement factor H and age-related macular degeneration in the Tunisian population.
|
23306536 |
2013 |
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
A 6.7-fold increased odds of AMD (95% CI, 1.6-28.2) was observed among women with deficient vitamin D status (25[OH]D <12 ng/mL) and 2 risk alleles for CFH Y402H (SI for additive interaction, 1.4; 95% CI, 1.1-1.7; P for multiplicative interaction = .25).
|
26312598 |
2015 |
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
A Tyr402His variant in exon 9 in the complement factor H (CFH) gene was also significantly associated with ARM in the case-control allele (P<0.0001), case-control genotype (P<0.0001) and case-control family (P<0.0001) tests.
|
15930014 |
2005 |
|
Sepsis
|
|
0.020 |
GeneticVariation
|
BEFREE |
A case-control method (488 septic patients and 527 healthy individuals) was carried out in this study to investigate the genetic relationship between CFH polymorphisms (rs3753394 C/T, rs1065489 G/T and rs1061170 C/T) and susceptibility to sepsis caused by bacterial infections in Chinese Han populations.
|
31525397 |
2020 |
|
Septicemia
|
|
0.020 |
GeneticVariation
|
BEFREE |
A case-control method (488 septic patients and 527 healthy individuals) was carried out in this study to investigate the genetic relationship between CFH polymorphisms (rs3753394 C/T, rs1065489 G/T and rs1061170 C/T) and susceptibility to sepsis caused by bacterial infections in Chinese Han populations.
|
31525397 |
2020 |
|
Bacterial Infections
|
|
0.010 |
GeneticVariation
|
BEFREE |
A case-control method (488 septic patients and 527 healthy individuals) was carried out in this study to investigate the genetic relationship between CFH polymorphisms (rs3753394 C/T, rs1065489 G/T and rs1061170 C/T) and susceptibility to sepsis caused by bacterial infections in Chinese Han populations.
|
31525397 |
2020 |
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
A combination of elevated CRP and the CC (Y402H) genotype resulted in a super-additivity of the risks, with odds ratios of 19.3 (95% CI, 2.8-134) for late AMD, and 6.8 (95% CI, 1.2-38.8) for AMD progression, with the attributable proportion of risk owing to CRP-CFH interaction calculated at 26% for prevalent late AMD and 22% for AMD progression.
|
20605213 |
2010 |
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
A common polymorphism in the complement factor H gene (rs1061170, Y402H) is associated with a high risk of age-related macular degeneration (AMD).
|
23596508 |
2013 |
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
A FH Tyr402His polymorphism in SCR-7 is associated with age-related macular degeneration (AMD) and leads to deposition of complement in drusen.
|
20711705 |
2010 |
|
Drusen
|
|
0.050 |
GeneticVariation
|
BEFREE |
A FH Tyr402His polymorphism in SCR-7 is associated with age-related macular degeneration (AMD) and leads to deposition of complement in drusen.
|
20711705 |
2010 |
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
A human induced pluripotent stem cell (hiPSC) line was derived from peripheral blood mononuclear cells (PBMCs) from a patient with a clinical diagnosis of dry AMD carrying the CFH Y402H polymorphism.
|
31176916 |
2019 |
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
A large number of human genetic studies have associated a common variant (Y402H) of complement factor H (CFH) with a highly significant increase in AMD risk.
|
17580967 |
2007 |
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
A meta-analysis of eight studies assessing association between the CFH Y402H polymorphism and AMD was performed.
|
16905558 |
2006 |
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
A non-synonymous SNP (rs1061170/Y402H) in CFH encoding complement factor H (fH) is robustly associated with increased AMD risk but associations with CHD risk have been inconsistent.
|
20708732 |
2010 |