|
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 |
DNA resequencing of the complement factor H gene within this haplotype revealed a common coding variant, Y402H, that significantly increases the risk for AMD with odds ratios between 2.45 and 5.57.
|
15761120 |
2005 |
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Significant association (P = 4.95 x 10(-10)) was identified within the regulation of complement activation locus and was centered over a tyrosine-402 --> histidine-402 protein polymorphism in the gene encoding complement factor H. Possession of at least one histidine at amino acid position 402 increased the risk of AMD 2.7-fold and may account for 50% of the attributable risk of AMD.
|
15761121 |
2005 |
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
We found association of eight common HF1 SNPs with AMD; two common missense variants exhibit highly significant associations (I62V, chi2 = 26.1 and P = 3.2 x 10(-7) and Y402H, chi2 = 54.4 and P = 1.6 x 10(-13)).
|
15870199 |
2005 |
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration.
|
15895326 |
2005 |
|
Blindness
|
|
0.050 |
GeneticVariation
|
BEFREE |
Using a large sample of cases and controls from a single center, we show that a T-->C substitution in exon 9 (Y402H) of the complement factor H gene is strongly associated with susceptibility to age-related macular degeneration, the most common cause of blindness in the elderly.
|
15895326 |
2005 |
|
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 |
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
These associations appear to be independent of the association of ARM with the Y402H allele of complement factor H, which has previously been reported as a major susceptibility factor for ARM.
|
16080115 |
2005 |
|
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 |
|
Ischemic stroke
|
|
0.010 |
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 |
|
Venous Thromboembolism
|
|
0.010 |
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 |
|
Vascular Diseases
|
|
0.010 |
GeneticVariation
|
BEFREE |
We, therefore, evaluated the CFH genetic variant Y402H amongst 685 Caucasian individuals who subsequently developed arterial or venous thrombotic event (incident myocardial infarction (MI), ischaemic stroke, or venous thromboembolism) and amongst 685 age- and smoking-matched Caucasian individuals who remained free of reported vascular disease during follow-up (controls) within the Physicians' Health Study cohort.
|
16229850 |
2006 |
|
Atherothrombosis
|
|
0.010 |
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 |
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
We confirmed that the CFH Y402H</span> variant shows significant association to advanced AMD, with odds ratio of 2.39 in Icelandic patients (p = 5.9 x 10(-12)) and odds ratio of 2.14 in US patients from Utah (p = 2.0 x 10(-9)) with advanced AMD.
|
16300415 |
2006 |
|
Glycogen storage disease type II
|
|
0.100 |
GeneticVariation
|
BEFREE |
CFH Y402H confers similar risk of soft drusen and both forms of advanced AMD.
|
16300415 |
2006 |
|
Soft drusen
|
|
0.040 |
GeneticVariation
|
BEFREE |
Furthermore, we show that the Y402H variant confers similar risk of soft drusen and both forms of advanced AMD (GA or neovascular AMD).
|
16300415 |
2006 |
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
These results suggest the contribution of the Y402H polymorphism of the CFH gene to exudative AMD susceptibility also in the French population.
|
16379025 |
2005 |
|
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 |
The complement factor H (CFH) gene polymorphism Y402H (1277T-->C) has been associated with susceptibility to age-related macular degeneration (AMD).
|
16431947 |
2006 |
|
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 |
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The haplotype containing Y402H, which was previously reported to be associated with AMD, was only 4% in the control and case population, with a p value of 0.802.
|
16541016 |
2006 |
|
Coronary heart disease
|
|
0.060 |
GeneticVariation
|
BEFREE |
A total of 5,520 participants without history of coronary heart disease was genotyped for the Tyr402His polymorphism of the CFH gene.
|
16630992 |
2006 |
|
Coronary Artery Disease
|
|
0.060 |
GeneticVariation
|
BEFREE |
A total of 5,520 participants without history of coronary heart disease was genotyped for the Tyr402His polymorphism of the CFH gene.
|
16630992 |
2006 |
|
Coronary Arteriosclerosis
|
|
0.040 |
GeneticVariation
|
BEFREE |
A total of 5,520 participants without history of coronary heart disease was genotyped for the Tyr402His polymorphism of the CFH gene.
|
16630992 |
2006 |