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Parsian, A.J. et al.

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

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.[1]

References

Association of alpha-synuclein gene haplotypes with Parkinson's disease. Parsian, A.J., Racette, B.A., Zhao, J.H., Sinha, R., Patra, B., Perlmutter, J.S., Parsian, A. Parkinsonism Relat. Disord. (2007) [Pubmed]

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