rs2239372
This is a downstream gene variant variant in the PLAUR gene.
▶Research that mentions this SNP (1)
▶Genetic evidence implicating multiple genes in the MET receptor tyrosine kinase pathway in autism spectrum disorderAssociationN=2,712Daniel B. Campbell et al.(2008)· Autism Research
This study examined variants in five genes encoding proteins in the MET receptor tyrosine kinase signaling pathway (MET, HGF, PLAUR, SERPINE1, SP1, SUB1) in 664 autism spectrum disorder (ASD) families (2,712 individuals including 1,228 with ASD) and 312 controls. Family-based association testing confirmed that the MET rs1858830 C allele was significantly associated with ASD (P=0.008), with stronger evidence in multiplex families (P=0.001), and showed a relative risk of 1.76 (95% CI: 1.19-2.62) for CC genotype. The PLAUR promoter variant rs344781 T allele also showed significant association with ASD (FBAT P=0.006, case-control P=0.007) with relative risks of 1.93-2.42, and demonstrated functional relevance through luciferase assays. Other genes in the pathway showed no significant associations.
About PLAUR
This gene encodes the receptor for urokinase plasminogen activator and, given its role in localizing and promoting plasmin formation, likely influences many normal and pathological processes related to cell-surface plasminogen activation and localized degradation of the extracellular matrix. It binds both the proprotein and mature forms of urokinase plasminogen activator and permits the activation of the receptor-bound pro-enzyme by plasmin. The protein lacks transmembrane or cytoplasmic domains and may be anchored to the plasma membrane by a glycosyl-phosphatidylinositol (GPI) moiety following cleavage of the nascent polypeptide near its carboxy-terminus. However, a soluble protein is also produced in some cell types. Alternative splicing results in multiple transcript variants encoding different isoforms. The proprotein experiences several post-translational cleavage reactions that have not yet been fully defined. [provided by RefSeq, Jul 2008]
View all PLAUR variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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