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.
Parsian
A J
AJ
Department of Pediatrics, College of Medicine, University of Arkansas for Medical Sciences, ACHRI, 1120 Marshall Street, Little Rock, AR 72202, USA. parsianabbas@uams.edu
Racette
B A
BA
Zhao
J H
JH
Sinha
R
R
Patra
B
B
Perlmutter
J S
JS
Parsian
A
A
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004252:DNA Mutational Analysis / Q000379:methods; D018900:Dinucleotide Repeats / Q000235:genetics; D005260:Female; D005787:Gene Frequency / Q000502:physiology; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D051844:alpha-Synuclein / Q000235:genetics*
C497604:SNCA protein, human; D051844:alpha-Synuclein