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Familial genes in sporadic disease: common variants of alpha-synuclein gene associate with Parkinson's disease.

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.

SUBMITTER: Ross OA 

PROVIDER: S-EPMC2970620 | biostudies-literature | 2007 May-Jun

REPOSITORIES: biostudies-literature

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Familial genes in sporadic disease: common variants of alpha-synuclein gene associate with Parkinson's disease.

Ross Owen A OA   Gosal David D   Stone Jeremy T JT   Lincoln Sarah J SJ   Heckman Michael G MG   Irvine G Brent GB   Johnston Janet A JA   Gibson J Mark JM   Farrer Matthew J MJ   Lynch Timothy T  

Mechanisms of ageing and development 20070424 5-6

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-  ...[more]

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