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rs1136287

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 normal
(C;T) 1.8 1.5x increased risk of wet ARMD in a Taiwanese Chinese population
(T;T) 2 3.9x increased risk of wet ARMD in a Taiwanese Chinese population
ReferenceGRCh38 38.1/141
Chromosome17
Position1769982
GeneSERPINF1
is asnp
is mentioned by
dbSNPrs1136287
ebirs1136287
HLIrs1136287
Exacrs1136287
Varsomers1136287
Maprs1136287
PheGenIrs1136287
hapmaprs1136287
1000 genomesrs1136287
hgdprs1136287
ensemblrs1136287
gopubmedrs1136287
geneviewrs1136287
scholarrs1136287
googlers1136287
pharmgkbrs1136287
gwascentralrs1136287
openSNPrs1136287
23andMers1136287
23andMe allrs1136287
SNP Nexus

SNPshotrs1136287
SNPdbers1136287
MSV3drs1136287
GWAS Ctlgrs1136287
GMAF0.3526
Max Magnitude2
? (C;C) (C;T) (T;T) 28
rs1136287, also known as Met72Thr, is a SNP in the PEDF gene.

Analysis of 86 Taiwanese Chinese patients with wet age related macular degeneration (ARMD) found the (T) allele to be more frequent in patients than in controls (50% vs 31%; p =.0005). The rs1136287(T;T) genotype was also more prevalent in patients than in controls (odds ratio 3.9, p = .0015).[PMID 18226801]


[PMID 20132989] Phenotype and Genotype Characteristics of Age-related Macular Degeneration in a Japanese Population


[PMID 20504225] Pigment Epithelium-Derived Factor Expression in Colorectal Cancer Patients

[PMID 20678803] Complement Factor H and High-Temperature Requirement A-1 Genotypes and Treatment Response of Age-related Macular Degeneration

[PMID 21174599] Pigment Epithelium-Derived Factor Gene Polymorphisms in Exudative Age-Related Degeneration in a Chinese Cohort


[PMID 22029535] Lack of Association with PEDF Met72Thr Variant in Neovascular Age-related Macular Degeneration and Polypoidal Choroidal Vasculopathy in a Han Chinese Population


[PMID 17658465] Promoter polymorphisms of the pigment epithelium-derived factor gene are associated with diabetic retinopathy.


[PMID 19223990OA-icon.png] Analysis of three pigment epithelium-derived factor gene polymorphisms in patients with exudative age-related macular degeneration.


[PMID 19503741OA-icon.png] Coding variant Met72Thr in the PEDF gene and risk of neovascular age-related macular degeneration and polypoidal choroidal vasculopathy.


GET Evidence
SERPINF1-T72M
aa_change Thr72Met
aa_change_short T72M
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.7124
summary



[PMID 23722394] Evaluation of pigment epithelium-derived factor and complement factor I polymorphisms as a cause of choroidal neovascularization in highly myopic eyes