title: PINK1 polymorphism IVS1-7 A-->G, exposure to environmental risk factors and anticipation of disease onset in Brazilian patients with early-onset Parkinson's Disease.
abstract: Parkinson's disease (PD) etiology has been attributed both to genetic and environmental factors, although the exact mechanisms of its pathogenesis remains elusive. We investigated Brazilian early-onset PD (EOPD) patients with PINK1 polymorphisms (SNPs) in order to find possible correlations between SNPs, environmental exposure, and disease age of onset. We enrolled 48 patients and 61 controls. PINK1 SNPs and environmental exposure (living in rural areas, well-water drinking, exposure to pesticides, herbicides and organic solvents and smoking) were investigated in both groups. We divided our group of patients into four subgroups, according to the presence/absence of PINK1 SNP IVS1-7 A-->G and the presence/absence of environmental factors exposure. We found a significant decrease (ANOVA test: p=0.02) of age at disease onset in those patients that had the IVS1-7 A-->G SNP and were exposed to environmental risk factors. Our data suggest that the interaction of PINK1 SNP IVS1-7 A-->G and environmental risk factors together have an important role in EOPD: each of them individually has a minor influence, whereas their interaction is associated with a significant effect in anticipating the disease clinical onset.
authors: Movement Disorders Unit, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo - SP, Brazil. cleciojunior@yahoo.com.br
authors: Clecio
authors: C
authors: Godeiro
authors: Patricia M de Carvalho
authors: PM
authors: Aguiar
authors: Andre C
authors: AC
authors: Felício
authors: Orlando G P
authors: OG
authors: Barsottini
authors: Sonia M A
authors: SM
authors: Silva
authors: Vanderci
authors: V
authors: Borges
authors: Luiz Augusto F
authors: LA
authors: Andrade
authors: Henrique Ballalai
authors: HB
authors: Ferraz
mesh_terms: D000328:Adult; D017668:Age of Onset; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011446:Prospective Studies; D011494:Protein Kinases / Q000235:genetics*; D018570:Risk Assessment; D012307:Risk Factors; D014876:Water Pollution / Q000009:adverse effects*; D000099202:PTEN-Induced Putative Kinase
chemical_list: D011494:Protein Kinases; D000099202:PTEN-Induced Putative Kinase