Journal of Molecular Neuroscience

, Volume 47, Issue 3, pp 425–430

A Search for SNCA 3′ UTR Variants Identified SNP rs356165 as a Determinant of Disease Risk and Onset Age in Parkinson’s Disease

  • Lucía F. Cardo
  • Eliecer Coto
  • Lorena de Mena
  • René Ribacoba
  • Oswaldo Lorenzo-Betancor
  • Pau Pastor
  • LLuis Samaranch
  • Ignacio F. Mata
  • Marta Díaz
  • Germán Moris
  • Manuel Menéndez
  • Ana I. Corao
  • Victoria Alvarez
Article

DOI: 10.1007/s12031-011-9669-1

Cite this article as:
Cardo, L.F., Coto, E., de Mena, L. et al. J Mol Neurosci (2012) 47: 425. doi:10.1007/s12031-011-9669-1

Abstract

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.

Keywords

Parkinson’s disease Alpha-synuclein DNA polymorphisms Genetic risk 

Supplementary material

12031_2011_9669_MOESM1_ESM.doc (32 kb)
Supplementary Table 1Primers designed to amplify the four 3´UTR SNCA fragments. SNP rs356165 was genotyped through amplification with fragment 4 primers, followed by digestion with TaiI and electrophoresis on 4% agarose gel to visualize the two alleles: A 273 bp and G 199 + 74 bp (DOC 32 kb)
12031_2011_9669_MOESM2_ESM.doc (79 kb)
Supplementary Fig. 1a PCR-RFLP genotypes for the rs356165 SNP. b SSCA patterns of heterozygotes (arrows) for the c.404 C>T and the c.*139 T>G (SNP rs10024743). c DNA sequences showing the c.404 C>T and the c.*575_579 deletion (DOC 79 kb)

Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  • Lucía F. Cardo
    • 1
  • Eliecer Coto
    • 1
    • 4
  • Lorena de Mena
    • 1
  • René Ribacoba
    • 2
  • Oswaldo Lorenzo-Betancor
    • 3
    • 5
  • Pau Pastor
    • 3
    • 5
  • LLuis Samaranch
    • 3
  • Ignacio F. Mata
    • 6
    • 7
  • Marta Díaz
    • 1
  • Germán Moris
    • 2
  • Manuel Menéndez
    • 2
  • Ana I. Corao
    • 1
  • Victoria Alvarez
    • 1
  1. 1.Genética Molecular-Laboratorio de MedicinaHospital Universitario Central de AsturiasOviedoSpain
  2. 2.NeurologíaHospitales Universitario Central Asturias, and Álvarez Buylla-MieresAsturiasSpain
  3. 3.Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical ResearchClínica Universitaria de NavarraPamplonaSpain
  4. 4.Department of MedicineUniversity of OviedoOviedoSpain
  5. 5.Department of NeurologyClínica Universitaria de NavarraPamplonaSpain
  6. 6.Geriatric Research, Education and Clinical CenterVeterans Affairs Puget Sound Health Care SystemSeattleUSA
  7. 7.Department of NeurologyUniversity of Washington School of MedicineSeattleUSA

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