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

• Published in: Parkinsonism & related disorders Vol. 13; no. 6; pp. 343 - 347
• Main Authors: Parsian, A.J, Racette, B.A, Zhao, J.H, Sinha, R, Patra, B, Perlmutter, J.S, Parsian, A
• Format: Journal Article
• Language: English
• Published: England Elsevier Ltd 01.08.2007
• Subjects: Adult; Aged; Aged, 80 and over; alpha-Synuclein - genetics; Dinucleotide Repeats - genetics; DNA Mutational Analysis - methods; Female; Gene Frequency - physiology; Genetic Predisposition to Disease; Haplotype; Haplotypes; Humans; Linkage Disequilibrium; Male; Middle Aged; Neurology; Parkinson; Parkinson Disease - genetics; Polymorphism, Single Nucleotide; Single nucleotide polymorphism (SNP); α-synuclein; Single nucleotide polymorphism (SNP); Haplotype; Parkinson; α-synuclein
• ISSN: 1353-8020; 1873-5126
• DOI: 10.1016/j.parkreldis.2006.12.006

Abstract 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.