title: Association of codon 167 Ser/Asn heterozygosity in the parkin gene with sporadic Parkinson's disease.
abstract: A variety of deletional and point mutations has been identified in the parkin gene on chromosome 6q25.2-27 in patients with autosomal recessive juvenile parkinsonism, a distinct form of familial Parkinson's disease (PD). To study the potential involvement of the parkin gene in development of non-hereditary idiopathic PD, a codon 167 serine/asparagine (167S/N) polymorphism located in its exon 4 was analyzed by direct sequencing in 71 patients with sporadic PD and 109 age-matched non-PD controls. The frequency of either 167S or 167N allele was not statistically different between PD patients and controls, while the frequency of 167S/N heterozygotes was significantly higher in PD patients (62.0% vs 45.9%), compared with that of both 167S/S and 167N/N homozygotes combined (chi2 4.467, p = 0.0346; odds ratio = 1.92, 95% confidence interval = 1.05-3.54). These observations suggest that the heterozygosity at codon 167 in the parkin gene might represent a genetic risk factor for development of sporadic PD.
authors.affiliation: Department of Internal Medicine, Saga Medical School, Japan.
authors.forename: J
authors.initials: J
authors.lastname: Satoh
authors.forename: Y
authors.initials: Y
authors.lastname: Kuroda
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000595:Amino Acid Sequence / Q000235:genetics; D003062:Codon / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008025:Ligases; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D011506:Proteins / Q000235:genetics*; D012016:Reference Values; D044767:Ubiquitin-Protein Ligases
chemical_list: D003062:Codon; D011506:Proteins; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D008025:Ligases