rs2227562
This is a intron variant variant in the PLAU gene.
▶ClinVar annotation
▶Research that mentions this SNP (2)
▶Association between urokinase haplotypes and outcome from infection-associated acute lung injuryAssociationN=427John Arcaroli et al.(2008)· Intensive Care Medicine
This association study examined six urokinase gene polymorphisms in 252 European-American patients with infection-associated acute lung injury and 175 healthy controls. While single-marker analyses showed no significant associations, haplotype analysis identified the CGCCCC haplotype (rs1916341-rs2227562-rs2227564-rs2227566-rs2227571-rs4065) as significantly associated with 60-day mortality (p=0.033) and prolonged mechanical ventilation (p<0.001) in ALI patients. The urokinase haplotype was associated with outcome but not susceptibility to ALI.
▶Association of tagSNPs in the urokinase‐plasminogen activator (PLAU) gene with Alzheimer's disease and associated quantitative traitsAssociationN=1,697Ozturk A. et al.(2007)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Association study of four tag SNPs in the urokinase-plasminogen activator (PLAU) gene with Alzheimer's disease in 1,000 cases and 697 controls. The 3'UTR variant rs4065 showed significant protective association with AD risk (OR=0.71, 95% CI: 0.53-0.95, p=0.02) and age-at-onset (p=0.036), while rs2227571 in intron 9 was associated with age-at-onset (p=0.01) and disease duration (p=0.006).
About PLAU
This gene encodes a secreted serine protease that converts plasminogen to plasmin. The encoded preproprotein is proteolytically processed to generate A and B polypeptide chains. These chains associate via a single disulfide bond to form the catalytically inactive high molecular weight urokinase-type plasminogen activator (HMW-uPA). HMW-uPA can be further processed into the catalytically active low molecular weight urokinase-type plasminogen activator (LMW-uPA). This low molecular weight form does not bind to the urokinase-type plasminogen activator receptor. Mutations in this gene may be associated with Quebec platelet disorder and late-onset Alzheimer's disease. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
View all PLAU variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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