Genetic analysis of Parkin in early onset Parkinson's disease (PD): Novel intron 9 g > a single nucleotide polymorphism and risk of Taiwanese PD.

摘要: Early onset Parkinson's disease (PD) has been associated with mutations in Parkin. We screened Parkin a cohort of Taiwanese early PD using direct cDNA sequencing. Two deletions (Ex2-3del and Ex5del), one point mutation (R334C), 86-bp IVS9 insertion (c.1084intron+), two polymorphisms (S167N V380L) were identified. The identified are heterozygous none the carriers possess mutations. c.1084intron+ was due to novel g > a change. To assess association g > a, S167N V380L risk PD, we conducted case–control study ethnically matched controls. Although difference is not significant, C allele frequency notably lower patients than controls trend toward decrease developing evident (odds ratio: 0.71, 95% confidence interval: 0.53–0.97, P = 0.029). Contrarily higher increase also 1.65, 1.06–2.59, P = 0.028). Quantitative real-time PCR showed that relative mRNA expression increased ga genotype as compared gg genotype. Pairwise analysis revealed strengthens negative GC 0.67, 0.48–0.94, P = 0.021). results mutation/polymorphism screening may contribute our understanding PD. © 2009 Wiley-Liss, Inc.