rs1559085
This is a upstream gene variant variant in the CAST gene.
▶ClinVar annotation
▶Research that mentions this SNP (2)
▶SNPs in CAST are associated with Parkinson disease: A confirmation studyAssociationN=1,943Andrew S. Allen et al.(2010)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This confirmation study analyzes GWAS data from the CIDR familial Parkinson disease cohort (1048 cases, 895 controls) to validate previously reported associations between calpastatin (CAST) gene polymorphisms and Parkinson disease. The authors found a significant association between rs1559085 in CAST and PD (p=0.0167 after multiple comparison correction) with an allelic odds ratio of 1.43, confirming the association identified in the NINDS PD study and supporting CAST as a gene involved in PD etiology.
▶Genomewide association study for susceptibility genes contributing to familial Parkinson diseaseAssociationN=1,724Nathan Pankratz et al.(2009)· Human Genetics
First genome-wide association study (GWAS) of familial Parkinson disease in 857 cases and 867 controls identified association with SNPs in GAK/DGKQ (p=3.4×10⁻⁶, OR=1.69), SNCA (p=5.5×10⁻⁵, OR=1.35), and MAPT (p=2.0×10⁻⁵, OR=0.56). Meta-analysis with Fung et al. strengthened evidence for GAK/DGKQ (p=2.5×10⁻⁷) and MAPT regions, confirming previously implicated genes and nominating new susceptibility loci for PD.
About CAST
The protein encoded by this gene is an endogenous calpain (calcium-dependent cysteine protease) inhibitor. It consists of an N-terminal domain L and four repetitive calpain-inhibition domains (domains 1-4), and it is involved in the proteolysis of amyloid precursor protein. The calpain/calpastatin system is involved in numerous membrane fusion events, such as neural vesicle exocytosis and platelet and red-cell aggregation. The encoded protein is also thought to affect the expression levels of genes encoding structural or regulatory proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010]
View all CAST variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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