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rs2227564

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs2227564(C;C)
Make rs2227564(C;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position73913343
GeneC10orf55, PLAU
is asnp
is mentioned by
dbSNPrs2227564
ebirs2227564
HLIrs2227564
Exacrs2227564
Varsomers2227564
Maprs2227564
PheGenIrs2227564
hapmaprs2227564
1000 genomesrs2227564
hgdprs2227564
ensemblrs2227564
gopubmedrs2227564
geneviewrs2227564
scholarrs2227564
googlers2227564
pharmgkbrs2227564
gwascentralrs2227564
openSNPrs2227564
23andMers2227564
23andMe allrs2227564
SNP Nexus

SNPshotrs2227564
SNPdbers2227564
MSV3drs2227564
GWAS Ctlgrs2227564
GMAF0.2029
Max Magnitude0
? (C;C) (C;T) (T;T) 28
rs2227564 A functional polymorphism within plasminogen activator urokinase (PLAU) is associated with Alzheimer's disease [PMID 16825285].
  • rs2227564 distribution of four tagSNPs (rs2227562 in intron 5, rs2227564 in exon 6, rs2227571 in intron 9, and rs4065 in 3' UTR) in the PLAU gene in a large case-control study of Alzheimer's disease
OMIM191840
DescALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO
Variant0001
Relatedalso
OMIM605526
DescALZHEIMER DISEASE 6
Variant
Relatedalso


[PMID 21627387] A C to T polymorphism of Urokinase Plasminogen Activator (P141L) is Associated with Helicobacter pylori Infection


ClinVar
Risk rs2227564(C;C)
Alt rs2227564(C;C)
Reference rs2227564(T;T)
Significance Other
Disease Alzheimer disease
Variation info
Gene PLAU C10orf55
CLNDBN Alzheimer disease, late-onset, susceptibility to
Reversed 0
HGVS NC_000010.10:g.75673101T\x3d
CLNSRC OMIM Allelic Variant
CLNACC RCV000013052.2,



[PMID 15558716] No association of a non-synonymous PLAU polymorphism with Alzheimer's disease and disease-related traits.

[PMID 15615772] Elevated amyloid beta protein (Abeta42) and late onset Alzheimer's disease are associated with single nucleotide polymorphisms in the urokinase-type plasminogen activator gene.

[PMID 15637659OA-icon.png] Linkage disequilibrium patterns and tagSNP transferability among European populations.

[PMID 16385451OA-icon.png] A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.

[PMID 16967469] Association of tagSNPs in the urokinase-plasminogen activator (PLAU) gene with Alzheimer's disease and associated quantitative traits.

[PMID 17174555] The urokinase-type plasminogen activator polymorphism PLAU_1 is a risk factor for APOE-epsilon4 non-carriers in the Italian Alzheimer's disease population and does not affect the plasma Abeta(1-42) level.

[PMID 17363771] Association of urokinase-type plasminogen activator with asthma and atopy.

[PMID 17601350OA-icon.png] A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.

[PMID 17994220] Association between urokinase haplotypes and outcome from infection-associated acute lung injury.

[PMID 18076107OA-icon.png] Confronting complexity in late-onset Alzheimer disease: application of two-stage analysis approach addressing heterogeneity and epistasis.

[PMID 18778477OA-icon.png] Genomic variation in myeloma: design, content, and initial application of the Bank On A Cure SNP Panel to detect associations with progression-free survival.

[PMID 19379518OA-icon.png] Development of a fingerprinting panel using medically relevant polymorphisms.

[PMID 19526059OA-icon.png] Polymorphic variation of genes in the fibrinolytic system and the risk of ovarian cancer.

[PMID 20518747] Association of putative functional variants in the PLAU gene and the PLAUR gene with myocardial infarction.

[PMID 20565774OA-icon.png] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.

[PMID 21819230] Genetic variants in fibrinolytic system-related genes in infertile women with and without endometriosis.


GET Evidence
PLAU-L141P
aa_change Leu141Pro
aa_change_short L141P
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.841792
summary



GWAS snp
PMID [PMID 23128233OA-icon.png]
Trait Inflammatory bowel disease
Title Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
Risk Allele C
P-val 7E-10
Odds Ratio 1.08 [1.048-1.118]


[PMID 23621237] Single Nucleotide Polymorphisms in the u-PA Gene are Related to Susceptibility to Oral Tongue Squamous Cell Carcinoma in the Northern Chinese Han Population


[PMID 23628797] Significant association of urokinase plasminogen activator Pro141Leu with serum lipid profiles in a Japanese population.


[PMID 23813610] Meta-analysis of the association between urokinase-plasminogen activator gene rs2227564 polymorphism and Alzheimer's disease.