A Search for SNCA 3′ UTR Variants Identified SNP rs356165 as a Determinant of Disease Risk and Onset Age in Parkinson’s Disease
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 genot...
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Veröffentlicht in: | Journal of molecular neuroscience 2012-07, Vol.47 (3), p.425-430 |
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Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | 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. |
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ISSN: | 0895-8696 1559-1166 |
DOI: | 10.1007/s12031-011-9669-1 |