Association study of Parkin gene polymorphisms with idiopathic Parkinson disease.
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.
Oliveira, SA; Scott, WK; Nance, MA; Watts, RL; Hubble, JP; Koller, WC; Lyons, KE; Pahwa, R; Stern, MB; Hiner, BC; Jankovic, J; Ondo, WG; Allen, FH; Scott, BL; Goetz, CG; Small, GW; Mastaglia, FL; Stajich, JM; Zhang, F; Booze, MW; Reaves, JA; Middleton, LT; Haines, JL; Pericak-Vance, MA; Vance, JM; Martin, ER
Volume / Issue
Start / End Page
Pubmed Central ID
International Standard Serial Number (ISSN)
Digital Object Identifier (DOI)