Familial genes in sporadic disease: Common variants of α-synuclein gene associate with Parkinson's disease

Owen A. Ross, David Gosal, Jeremy T. Stone, Sarah J. Lincoln, Michael G. Heckman, G. Brent Irvine, Janet A. Johnston, J. Mark Gibson, Matthew J. Farrer, Timothy Lynch

Research output: Contribution to journalArticle

45 Scopus citations

Abstract

Genetic variation of the α-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 (US)
Pages (from-to)378-382
Number of pages5
JournalMechanisms of Ageing and Development
Volume128
Issue number5-6
DOIs
StatePublished - May 1 2007

Keywords

  • Parkinson's disease
  • Polymorphism
  • α-Synuclein

ASJC Scopus subject areas

  • Aging
  • Developmental Biology

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    Ross, O. A., Gosal, D., Stone, J. T., Lincoln, S. J., Heckman, M. G., Irvine, G. B., Johnston, J. A., Gibson, J. M., Farrer, M. J., & Lynch, T. (2007). Familial genes in sporadic disease: Common variants of α-synuclein gene associate with Parkinson's disease. Mechanisms of Ageing and Development, 128(5-6), 378-382. https://doi.org/10.1016/j.mad.2007.04.002