rs10053056
This is a intron variant variant in the CAST gene.
▶Research that mentions this SNP (1)
▶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.
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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