rs10515248
This variant is located in the ERAP1 gene.
▶ClinVar annotation
▶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 ERAP1
The protein encoded by this gene is an aminopeptidase involved in trimming HLA class I-binding precursors so that they can be presented on MHC class I molecules. The encoded protein acts as a monomer or as a heterodimer with ERAP2. This protein may also be involved in blood pressure regulation by inactivation of angiotensin II. Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]
View all ERAP1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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