Alpha-synuclein gene (SNCA) polymorphisms have been associated with the
common sporadic form of Parkinson’s disease (PD). We searched for DNA variants
at the SNCA 3′ UTR through single strand conformation analysis and direct
sequencing in a cohort of Spanish PD patients and controls. We have genotyped
the rs356165 SNCA 3′ UTR polymorphism in a total of 1,135 PD patients and
772 healthy controls from two Spanish cohorts (Asturias and Navarre). We
identified six SNCA 3′ UTR variants. Single nucleotide polymorphism (SNP)
rs356165 was significantly associated with PD risk in the Spanish cohort
(p = 0.0001; odd ratio = 1.37, 95%CI = 1.19–1.58). This SNP was also
significantly associated with early age at onset of PD. Our work highlights
rs356165 as an important determinant of the risk of developing PD and early age
at onset and encourages future research to identify a functional effect on
SNCA expression.
Journal of Molecular Neuroscience, 1-6