RGD Reference Report - SNPs in CAST are associated with Parkinson disease: a confirmation study. - Rat Genome Database

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SNPs in CAST are associated with Parkinson disease: a confirmation study.

Authors: Allen, AS  Satten, GA 
Citation: Allen AS and Satten GA, Am J Med Genet B Neuropsychiatr Genet. 2010 Jun 5;153B(4):973-9.
RGD ID: 5509800
Pubmed: PMID:20127884   (View Abstract at PubMed)
PMCID: PMC3685412   (View Article at PubMed Central)
DOI: DOI:10.1002/ajmg.b.31061   (Journal Full-text)

Using data from the National Institutes of Neurological disease and Stroke's (NINDS) study of Parkinson disease (PD), we recently reported that single nucleotide polymorphisms (SNPs) in a region containing the Calpastatin (CAST) gene were associated with PD. Here we follow up this finding with an analysis of the Center for Inherited Disease Research's (CIDR) genome-wide association study in familial PD. After adjusting for population stratification and multiple testing, we find a significant association (P = 0.0167) between PD and SNP rs1559085 in CAST. These findings confirm CAST/PD associations in a second, independent, dataset and suggest that CAST be prioritized for further investigation.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Parkinson's disease  IAGP 5509800DNA:SNP:intron: (rs1559085) (human)RGD 
Parkinson's disease  ISOCAST (Homo sapiens)5509800; 5509800DNA:SNP:intron: (rs1559085) (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Parkinsonism  IAGP 5509800DNA:SNP:intron: (rs1559085)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Cast  (calpastatin)

Genes (Mus musculus)
Cast  (calpastatin)

Genes (Homo sapiens)
CAST  (calpastatin)


Additional Information