|
rs1136287
|
SERPINF1
|
Blood Protein Measurement
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Co-regulatory networks of human serum proteins link genetics to disease.
|
30072576 |
2018 |
|
rs34386380
|
SERPINF1
|
Blood Protein Measurement
|
CT |
0.700 |
GeneticVariation |
GWASCAT |
Genomic atlas of the human plasma proteome.
|
29875488 |
2018 |
|
rs62088172
|
SERPINF1
|
Blood Protein Measurement
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Genomic atlas of the human plasma proteome.
|
29875488 |
2018 |
|
rs193302872
|
SERPINF1
|
Osteogenesis Imperfecta, Type VI
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs193302873
|
SERPINF1
|
Osteogenesis Imperfecta, Type VI
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs398122518
|
SERPINF1
|
Osteogenesis Imperfecta, Type VI
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs398122519
|
SERPINF1
|
Osteogenesis Imperfecta, Type VI
|
GT |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs398122520
|
SERPINF1
|
Osteogenesis Imperfecta, Type VI
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs869312908
|
SERPINF1
|
Osteogenesis Imperfecta, Type VI
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1136287
|
SERPINF1
|
Age related macular degeneration
|
|
0.060 |
GeneticVariation |
BEFREE |
The T-C haplotype frequency of rs1136287-rs1894286 in PEDF were significantly correlated to the increased susceptibility to AMD (OR = 1.57, 95% CI = 1.02-2.40).The rs1136287 polymorphism in PEDF may be related to the occurrence risk of AMD.
|
30142832 |
2018 |
|
rs1136287
|
SERPINF1
|
Age related macular degeneration
|
|
0.060 |
GeneticVariation |
BEFREE |
The most-investigated polymorphism, rs1136287, had a pooled-OR of 1.02 (95% CI: 0.94-1.11, P = 0.64) for AMD.
|
25820866 |
2015 |
|
rs1136287
|
SERPINF1
|
Age related macular degeneration
|
|
0.060 |
GeneticVariation |
BEFREE |
There was evidence to suggest that heterozygotes for rs1136287 (C/T) exerted a protective effect against exudative AMD (additive model, OR 0.59, CI 0.36-0.95, p = 0.03), but none of the p-values in the other genotype groups were statistically significant.
|
21174599 |
2011 |
|
rs1136287
|
SERPINF1
|
Age related macular degeneration
|
|
0.060 |
GeneticVariation |
BEFREE |
We report a lack of association between the PEDF Met72Thr variant and either neovascular AMD or PCV in a Japanese population.
|
19503741 |
2009 |
|
rs1136287
|
SERPINF1
|
Age related macular degeneration
|
|
0.060 |
GeneticVariation |
BEFREE |
Our data suggest that the PEDF Met72Thr T allele may be a risk factor for wet AMD in the Taiwan Chinese population.
|
18226801 |
2008 |
|
rs1136287
|
SERPINF1
|
Age related macular degeneration
|
|
0.060 |
GeneticVariation |
BEFREE |
Since it is well known that a single nucleotide polymorphism and resultant amino acid change often alters the activity or expression level of the target protein, we would like to propose here a novel hypothesis that the Met72Thr polymorphism (T/C polymorphism) of PEDF gene may be a genetic marker for ARMD.
|
15823717 |
2005 |
|
rs1136287
|
SERPINF1
|
Exudative age-related macular degeneration
|
|
0.020 |
GeneticVariation |
BEFREE |
No evidence was found to support a role for the Met72Thr variant in susceptibility to either PCV or nAMD in a Han Chinese cohort.
|
22029535 |
2012 |
|
rs1136287
|
SERPINF1
|
Polypoidal choroidal vasculopathy
|
|
0.020 |
GeneticVariation |
BEFREE |
No evidence was found to support a role for the Met72Thr variant in susceptibility to either PCV or nAMD in a Han Chinese cohort.
|
22029535 |
2012 |
|
rs1136287
|
SERPINF1
|
Glycogen storage disease type II
|
|
0.020 |
GeneticVariation |
BEFREE |
There was evidence to suggest that heterozygotes for rs1136287 (C/T) exerted a protective effect against exudative AMD (additive model, OR 0.59, CI 0.36-0.95, p = 0.03), but none of the p-values in the other genotype groups were statistically significant.
|
21174599 |
2011 |
|
rs1136287
|
SERPINF1
|
Polypoidal choroidal vasculopathy
|
|
0.020 |
GeneticVariation |
BEFREE |
We report a lack of association between the PEDF Met72Thr variant and either neovascular AMD or PCV in a Japanese population.
|
19503741 |
2009 |
|
rs1136287
|
SERPINF1
|
Glycogen storage disease type II
|
|
0.020 |
GeneticVariation |
BEFREE |
We report a lack of association between the PEDF Met72Thr variant and either neovascular AMD or PCV in a Japanese population.
|
19503741 |
2009 |
|
rs1136287
|
SERPINF1
|
Exudative age-related macular degeneration
|
|
0.020 |
GeneticVariation |
BEFREE |
Coding variant Met72Thr in the PEDF gene and risk of neovascular age-related macular degeneration and polypoidal choroidal vasculopathy.
|
19503741 |
2009 |
|
rs12150053
|
SERPINF1
|
Diabetic Retinopathy
|
|
0.020 |
GeneticVariation |
BEFREE |
In addition, two other PEDF gene polymorphisms, -5736T>C (rs12150053) and -5304C>T (rs12948385), have been associated with increased risk of diabetic retinopathy, but have not yet been studied among patients with exudative AMD.
|
19223990 |
2009 |
|
rs12948385
|
SERPINF1
|
Diabetic Retinopathy
|
|
0.020 |
GeneticVariation |
BEFREE |
In addition, two other PEDF gene polymorphisms, -5736T>C (rs12150053) and -5304C>T (rs12948385), have been associated with increased risk of diabetic retinopathy, but have not yet been studied among patients with exudative AMD.
|
19223990 |
2009 |
|
rs12150053
|
SERPINF1
|
Diabetic Retinopathy
|
|
0.020 |
GeneticVariation |
BEFREE |
Based on case-control studies, rs12150053 and rs12948385, but not rs9913583 and rs1136287, were significantly associated with DR. A logistic regression analysis revealed that the TC or CC genotype of rs12150053 was a significant risk factor for DR (odds ratio 2.40, p=0.0004).
|
17658465 |
2007 |
|
rs12948385
|
SERPINF1
|
Diabetic Retinopathy
|
|
0.020 |
GeneticVariation |
BEFREE |
The GA or AA genotype of rs12948385 was also a significant risk factor for DR.
|
17658465 |
2007 |