Article Document Academic Article Information Content Entity Journal Article Continuant Continuant Entity Entity Generically Dependent Continuant 2025-05-07T17:48:05 RDF description of Association study of Parkin gene polymorphisms with idiopathic Parkinson disease - http://repository.healthpartners.com/individual/document-rn18472 Aged Archives of Neurology 2022-02-21T22:48:57.408-06:00 public 60 *Ubiquitin-Protein Ligases 7 Alleles Polymerase Chain Reaction Genetic Predisposition to Disease Haplotypes Polymorphism, Single Nucleotide/*genetics Parkinson Disease/*genetics Adolescent Association study of Parkin gene polymorphisms with idiopathic Parkinson disease Genotype 18006 Ligases/*genetics <p>BACKGROUND: Previously, we detected linkage of idiopathic Parkinson disease (PD) to the region on chromosome 6 that contains the Parkin gene (D6S305; logarithm of odds score, 5.47) in families with at least one individual with age at onset younger than 40 years (families with early-onset disease). Further study demonstrated the presence of Parkin mutations in this data set. However, previous case-control studies have reported conflicting results regarding the role of more common Parkin polymorphisms as susceptibility alleles for idiopathic PD. OBJECTIVE: To investigate the association of 7 previously studied Parkin single-nucleotide polymorphisms (SNPs) throughout the promoter and most of the open reading frame with PD in a large cohort of patients with primarily late-onset PD. METHODS: One promoter, 3 intronic, and 3 exonic Parkin SNPs were genotyped in 1580 individuals belonging to 397 families, and their association with PD was evaluated using family-based association tests. RESULTS: No significant association (P>.05) between PD and any Parkin SNP allele or genotype was detected. Haplotype analysis and stratification by age at onset or family history also failed to produce significant results. CONCLUSIONS: These results suggest that these common variants of Parkin are not associated with PD in white patients, although Parkin mutations are known to cause early- and late-onset PD.<p> 10.1001/archneur.60.7.975 document-rn18472 11713