|
Pseudoxanthoma Elasticum
|
|
0.010 |
GeneticVariation
|
BEFREE |
In conclusion, our data reliably show that the CFH variant c.1277T > C (p.Y402H) is not a genetic risk factor for PXE.
|
18627285 |
2008 |
|
Primary malignant neoplasm of lung
|
|
0.010 |
GeneticVariation
|
BEFREE |
These findings suggest that CFH Y402H polymorphism may interact with cigarette smoking to effect the development of lung cancer in the Chinese population.
|
22197220 |
2012 |
|
Polypoidal choroidal vasculopathy
|
|
0.060 |
GeneticVariation
|
BEFREE |
CFH Y402H and LOC387715 A69S are both significantly associated with PCV.
|
20688737 |
2010 |
|
Polypoidal choroidal vasculopathy
|
|
0.060 |
GeneticVariation
|
BEFREE |
The MAF of rs1061170 was not significantly different between either type of PCV and control (p = 0.084 and 0.15, respectively).
|
23289808 |
2013 |
|
Polypoidal choroidal vasculopathy
|
|
0.060 |
GeneticVariation
|
BEFREE |
CFH Y402H is associated with AMD, tAMD, and PCV, whereas I62V is associated with all three subtypes.
|
20574013 |
2010 |
|
Polypoidal choroidal vasculopathy
|
|
0.060 |
GeneticVariation
|
BEFREE |
With meta-analyses, variants in four genes were found to be significantly associated with PCV: LOC387715 rs10490924 (n=9, allelic odds ratio [OR]=2.27, p<0.00001), HTRA1 rs11200638 (n=4, OR=2.72, p<0.00001), CFH rs1061170 (n=4, OR=1.72, p<0.00001), CFH rs800292 (n=5, OR=2.10, p<0.00001), and C2 rs547154 (n=3, OR=0.56, p=0.01).
|
22509112 |
2012 |
|
Polypoidal choroidal vasculopathy
|
|
0.060 |
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 |
|
Polypoidal choroidal vasculopathy
|
|
0.060 |
GeneticVariation
|
BEFREE |
We conducted an association analysis between CFH variants and PCV in a Japanese population, genotyping 12 tag single nucleotide polymorphisms (SNPs)-including rs3753394, rs800292 (I62V), and rs1061170 (Y402H)-that are highly representative of the common genetic variation in the CFH region.
|
19187823 |
2009 |
|
Panuveitis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Carriage of the CFH Y402H polymorphism in both alleles is associated with an increased risk for posterior uveitis and panuveitis presentation.
|
23497844 |
2013 |
|
Ocular sarcoidosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The Y402H polymorphism of CFH seems to be associated with ocular sarcoidosis in black and white persons.
|
23497844 |
2013 |
|
Obesity
|
|
0.010 |
GeneticVariation
|
BEFREE |
Moreover, in exploratory analyses, we identified a number of possible interactions including between V249I and rs2669845 and dietary intake of ω-3 fatty acids (P = .004 and P = .009, respectively) for AMD; between rs2669845 and obesity (P = .03) for neovascular AMD; between T280M and complement component 3 (C3) R102G for AMD (P = .03); between rs2669845 and Y402H in complement factor H for AMD (P = .04); and between rs2669845, rs2853707, and V249I and C3 R102G for neovascular AMD (P = .008; .04; and .002, respectively).
|
24287500 |
2014 |
|
Nevus elasticus
|
|
0.010 |
GeneticVariation
|
BEFREE |
Complement factor H variant p.Y402H in pseudoxanthoma elasticum patients.
|
18627285 |
2008 |
|
Myocardial Infarction
|
|
0.030 |
GeneticVariation
|
BEFREE |
Cox proportional hazards analysis was used to determine risk of myocardial infarction for Tyr402His genotypes.
|
16630992 |
2006 |
|
Myocardial Infarction
|
|
0.030 |
GeneticVariation
|
BEFREE |
The common Y402H variant in complement factor H gene is not associated with susceptibility to myocardial infarction and its related risk factors.
|
17472578 |
2007 |
|
Myocardial Infarction
|
|
0.030 |
GeneticVariation
|
BEFREE |
In contrast to expected results, we found no association of Y402H polymorphism with risk of atherothrombosis (adjusted: myocardial infarction, OR=1.09, 95%CI 0.88-1.36, p=0.43; ischaemic stroke, OR=1.11, 95%CI 0.81-1.54, p=0.52; venous thromboembolism, OR=1.41, 95%CI 0.88-2.24, p=0.15), nor with baseline plasma C-reactive protein levels [median (interquartile range) mg/L: YY, 1.39 (0.70-2.60); YH, 1.10 (0.57-2.16); HH, 1.00 (0.48-1.79); p=0.14].
|
16229850 |
2006 |
|
Multiple Sclerosis
|
|
0.020 |
GeneticVariation
|
BEFREE |
Serum complement factor H and Tyr402 His gene polymorphism among Egyptians with multiple sclerosis.
|
26186240 |
2015 |
|
Multiple Sclerosis
|
|
0.020 |
GeneticVariation
|
BEFREE |
We examined whether the complement regulator factor H and its Tyr402His polymorphism, recently implicated as biomarkers in other chronic inflammatory central nervous system conditions, might identify or predict specific pathological processes and outcomes in multiple sclerosis.
|
20421219 |
2010 |
|
Multifocal choroiditis
|
|
0.010 |
GeneticVariation
|
BEFREE |
To determine whether the complement factor H (CFH) tyrosine 402 histidine (Y402H) variant, recently shown to be associated with age-related macular degeneration (AMD) and multifocal choroiditis, is associated with specific ocular sarcoidosis clinical phenotypes in black and white persons.
|
23497844 |
2013 |
|
Membranoproliferative Glomerulonephritis, Type II
|
|
0.010 |
GeneticVariation
|
BEFREE |
The complement factor H Y402H variant was significantly increased in dense deposit disease.
|
22456601 |
2012 |
|
Malignant neoplasm of lung
|
|
0.010 |
GeneticVariation
|
BEFREE |
These findings suggest that CFH Y402H polymorphism may interact with cigarette smoking to effect the development of lung cancer in the Chinese population.
|
22197220 |
2012 |
|
Major Depressive Disorder
|
|
0.010 |
GeneticVariation
|
BEFREE |
CFH is likely to play an important role in the development of MDD. rs1061170 has an important effect on age at onset of MDD in Han Chinese and may therefore be related to early pathogenesis of MDD, although further study is needed.
|
26941266 |
2016 |
|
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
|
|
0.700 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
|
Macular degeneration
|
|
0.020 |
GeneticVariation
|
BEFREE |
Molecular Mechanisms of Macular Degeneration Associated with the Complement Factor H Y402H Mutation.
|
30616835 |
2019 |
|
Macular degeneration
|
|
0.020 |
GeneticVariation
|
BEFREE |
Differential binding to C-reactive protein, thus, does not explain association of the Y402H polymorphism with macular degeneration.
|
18786923 |
2008 |
|
Lupus Nephritis
|
|
0.010 |
GeneticVariation
|
BEFREE |
There was a significantly higher ratio of CC/CT genotypes of rs1061170 in lupus nephritis patients with class III than in the other two classes (class III vs. class IV vs. class V: 21.0% vs. 9.7% vs. 9.4%; P = .044).
|
28403670 |
2017 |