Association of alpha-synuclein gene haplotypes with Parkinson's disease
In a previous study, we detected an association between a dinucleotide repeat (Rep1) in the alpha-Synuclein (SNCA) gene and sporadic Parkinson's disease (PD). To extend our previous finding in a larger sample and further determine the role of SNCA in the development of PD, we screened a sample of 194 familial PD (FPD), 327 sporadic PD (SPD), and 215 controls with the Rep1 marker and 2 single nucleotide polymorphisms (SNPs) (770 and int4) in the SNCA gene. There was significant difference in allele frequency between African American and American Indian groups for Rep1 marker (p=0.03). These two samples were excluded from further analysis because of sample size. Comparison of allele frequency differences between PD and controls for the single-locus was significant only for Rep1 and SPD (p=0.017). The global case control association was highly significant for the three loci haplotypes comparisons. Our results indicate that Rep1 locus may be in linkage disequilibrium (LD) with a mutation in the gene or itself could be a risk factor for SPD.
Medical Subject Headings
Adult; Aged; Aged, 80 and over; DNA Mutational Analysis (methods); Dinucleotide Repeats (genetics); Female; Gene Frequency (physiology); Genetic Predisposition to Disease; Haplotypes; Humans; Linkage Disequilibrium; Male; Middle Aged; Parkinson Disease (genetics); Polymorphism, Single Nucleotide; alpha-Synuclein (genetics)
Parkinsonism & related disorders
Digital Object Identifier (DOI)
Parsian, A J.; Racette, B A.; Zhao, J H.; Sinha, R; Patra, B; Perlmutter, J S.; and Parsian, A, "Association of alpha-synuclein gene haplotypes with Parkinson's disease" (2007). Neurology. 1103.