Association of α-synuclein gene haplotypes with Parkinson's disease

A. J. Parsian, B. A. Racette, J. H. Zhao, R. Sinha, B. Patra, J. S. Perlmutter, A. Parsian

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13 Scopus citations


In a previous study, we detected an association between a dinucleotide repeat (Rep1) in the α-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.

Original languageEnglish
Pages (from-to)343-347
Number of pages5
JournalParkinsonism and Related Disorders
Issue number6
StatePublished - Aug 2007


  • Haplotype
  • Parkinson
  • Single nucleotide polymorphism (SNP)
  • α-synuclein


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