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rs2227564

Chromosome : 10 , Position: 73913343

Most conditions are affected by anywhere from hundreds to millions of genetic variants (SNPs). A single SNP usually has a minor contribution to a person’s overall genetic risk for a certain condition. That is why you shouldn't consider or act on a SNP in isolation. Instead, we use SNPs to determine polygenic risk scores (PRSs), which are the basis of most health reports.

Reference Allele: T

Alternative Alleles: C

Associated Genes

PLAU

NDST2

FUT11

CAMK2G

VCL

CHCHD1

SEC24C

ZSWIM8

AGAP5

ADK

AP3M1

MYOZ1

SYNPO2L

USP54

PPP3CB

ANXA7

ECD

MSS51

Traits

Trait	Variant	Impact	PMID	Author (year)
Blood protein levels [PLAU, 4158_54_2]	C		Science	Emilsson V (2018)
Blood protein levels [KAZALD1, 7144_234_3]	C		Science	Emilsson V (2018)

Summary

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

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

[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] Linkage disequilibrium patterns and tagSNP transferability among European populations.

[PMID 16385451] 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] 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] Confronting complexity in late-onset Alzheimer disease: application of two-stage analysis approach addressing heterogeneity and epistasis.

[PMID 18778477] 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] Development of a fingerprinting panel using medically relevant polymorphisms.

[PMID 19526059] 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] 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.

[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.

More Information

Mechanism:

Nonsynonymous amino acid change in the “kringle domain,” the region of the protein that binds plasminogen and the PLAU receptor [R].
Decreased binding affinity for most ligands (T) [R].
Increased production of PLAU protein (C) [R]

The minor “T” allele is associated with:

T and TT genotypes were associated with late-onset Alzheimer’s disease [R], especially in those that are APOE-epsilon 4 negative (Italian cohort) [R].
Asthma, alzheimer’s disease, and colorectal cancer were also associated with the T allele [R].
Evidence suggests this allele could influence serum lipid levels (Japanese cohort) [R].
TT genotype correlates to a reduced risk of Helicobacter pylori infection [R].
The TT genotype is found in higher proportion in patients with coexisting Type 1 Diabetes mellitus and insulin resistance [R].
The T allele may confer protection from sporadic Alzheimer’s Disease (Chinese Han cohort) [R].

The major “C” allele is associated with:

Susceptibility to diseases involving inflammation [R].
Asthma and airway hyperresponsiveness (Canadian cohort) [R].
The CC genotype is more common in people with Oral tongue Squamous Cell Carcinoma (Chinese Han cohort) [R].
CC is associated with high levels of PLAU protein in patients with colorectal cancer [R].
CC was associated with decreased risk of developing Alzheimer's Disease [R].

Population Alleles Frequency

ethhicity	frequency
African/African-American	0.9544
Latino/Admixed American	0.7589
Ashkenazi Jewish	0.9
East Asian	0.6447
European	0.7414
Other (population not assigned)	0.7459

Frequently Asked Questions

Why Are Alleles for This SNP Different Elsewhere? Major vs. Reference Allele Is My Variant Good or Bad? SNP vs. Mutation

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rs2227564

Associated Genes

Traits

Summary

More Information

Population Alleles Frequency

Frequently Asked Questions

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