Familial genes in sporadic disease: Common variants of a-Synuclein gene associate with Parkinson’s disease

O.A. Ross, D. Gosal, J.T. Stone, S. Lincoln, M.G. Heckman, Brent Irvine, Janet Johnston, J.M. Gibson, M.J. Farrer, T. Lynch

Research output: Contribution to journalArticlepeer-review

45 Citations (Scopus)

Abstract

Genetic variation of the alpha-synuclein gene (SNCA) is known to cause familial parkinsonism, however the role of SNCA variants in sporadic Parkinson's disease (PD) remains elusive. The present study identifies an association of common SNCA polymorphisms with disease susceptibility in a series of Irish PD patients. There is evidence for association with alternate regions, of protection and risk which may act independently/synergistically, within the promoter region (Rep1; OR: 0.59, 95% CI: 0.37-0.84) and the 3'UTR of the gene (rs356165; OR: 1.67, 95% CI: 1.08-2.58). Given previous reports of association a collaborative effort is required which may exploit global linkage disequilibrium patterns for SNCA and standardise polymorphic markers used in each population. It is now crucial to identify the susceptibility allele and elucidate its functionality which may generate a therapeutic target for PD.
Original languageEnglish
Pages (from-to)378-382
Number of pages5
JournalMechanisms of Ageing and Development
Volume128 (5-6)
Issue number5-6
DOIs
Publication statusPublished - May 2007

ASJC Scopus subject areas

  • Ageing
  • Biochemistry
  • Developmental Biology
  • Developmental Neuroscience

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