{{Rsnum
|rsid=2227564
|Gene=PLAU
|Chromosome=10
|position=73913343
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.2029
|Gene_s=C10orf55,PLAU
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 58.4 | 35.4 | 6.2
| HCB | 41.2 | 44.9 | 14.0
| JPT | 56.6 | 38.9 | 4.4
| YRI | 100.0 | 0.0 | 0.0
| ASW | 84.2 | 15.8 | 0.0
| CHB | 41.2 | 44.9 | 14.0
| CHD | 40.7 | 47.2 | 12.0
| GIH | 35.6 | 53.5 | 10.9
| LWK | 0.0 | 0.0 | 0.0
| MEX | 50.9 | 42.1 | 7.0
| MKK | 92.3 | 7.7 | 0.0
| TSI | 68.6 | 27.5 | 3.9
| HapMapRevision=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

{{omim
|desc=ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO
|id=191840
|rsnum=2227564
|variant=0001
}}

{{omim
|id=605526
|desc=ALZHEIMER DISEASE 6
|rsnum=2227564
}}

{{PMID Auto
|PMID=21627387
|Title=A C to T polymorphism of Urokinase Plasminogen Activator (P141L) is Associated with Helicobacter pylori Infection
}}

{{ClinVar
|rsid=2227564
|Reversed=0
|FwdREF=T
|FwdALT=C
|REF=T
|ALT=C
|RSPOS=75673101
|CHROM=10
|GMAF=0.2033
|dbSNPBuildID=98
|SSR=0
|SAO=1
|VP=0x05016800000015051f130100
|GENEINFO=PLAU:5328; C10orf55:414236
|GENE_NAME=PLAU; C10orf55
|GENE_ID=5328; 414236
|WGT=0
|VC=SNV
|CLNALLE=0
|CLNHGVS=NC_000010.10:g.75673101T\x3d
|CLNORIGIN=1
|CLNSRCID=
191840.0001
|CLNSIG=255
|CLNCUI=
|CLNACC=
RCV000013052.1
|Tags=PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;MTP;OM
|CAF=0.2029; 0.7971
|CLNDBN=Alzheimer disease, late-onset, susceptibility to
|CLNDSDB=MedGen
|CLNDSDBID=C1834153
|CLNSRC=OMIM Allelic Variant
|COMMON=1
|Disease=Alzheimer disease
}}

{{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|15637659|OA=1
}} Linkage disequilibrium patterns and tagSNP transferability among European populations.

{{PMID|16385451|OA=1
}} 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|17601350|OA=1
}} 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|18076107|OA=1
}} Confronting complexity in late-onset Alzheimer disease: application of two-stage analysis approach addressing heterogeneity and epistasis.

{{PMID|18778477|OA=1
}} 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|19379518|OA=1
}} Development of a fingerprinting panel using medically relevant polymorphisms.

{{PMID|19526059|OA=1
}} 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|20565774|OA=1
}} 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
|gene=PLAU
|aa_change=Leu141Pro
|aa_change_short=L141P
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2227564
|overall_frequency_n=9056
|overall_frequency_d=10758
|overall_frequency=0.841792
|n_genomes=52
|n_genomes_annotated=0
|n_haplomes=95
|n_articles=0
|n_articles_annotated=0
|nblosum100=7
|autoscore=0
|webscore=N
}}

{{PMID Auto GWAS
  |PMID=23128233
  |Trait=Inflammatory bowel disease
  |Title=Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
  |RiskAllele=C
  |Pval=7E-10
  |OR=1.08
  |ORtxt=[1.048-1.118]
  |OA=1
}}

{{PMID Auto
|PMID=23621237
|Title=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 Auto
|PMID=23628797
|Title=Significant association of urokinase plasminogen activator Pro141Leu with serum lipid profiles in a Japanese population.
}}

{{PMID Auto
|PMID=23813610
|Title=Meta-analysis of the association between urokinase-plasminogen activator gene rs2227564 polymorphism and Alzheimer's disease.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}