TY - JOUR
T1 - Familial genes in sporadic disease: Common variants of a-Synuclein gene associate with Parkinson’s disease
AU - Ross, O.A.
AU - Gosal, D.
AU - Stone, J.T.
AU - Lincoln, S.
AU - Heckman, M.G.
AU - Irvine, Brent
AU - Johnston, Janet
AU - Gibson, J.M.
AU - Farrer, M.J.
AU - Lynch, T.
PY - 2007/5
Y1 - 2007/5
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=34347383973&partnerID=8YFLogxK
U2 - 10.1016/j.mad.2007.04.002
DO - 10.1016/j.mad.2007.04.002
M3 - Article
SN - 0047-6374
VL - 128 (5-6)
SP - 378
EP - 382
JO - Mechanisms of Ageing and Development
JF - Mechanisms of Ageing and Development
IS - 5-6
ER -