Familial genes in sporadic disease: common variants of alpha-synuclein gene associate with Parkinson's disease.
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.
Ross
Owen A
OA
Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL, USA. ross.owen@mayo.edu
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
D000368:Aged; D000483:Alleles; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D011110:Polymorphism, Genetic; D051844:alpha-Synuclein / Q000235:genetics*
D051844:alpha-Synuclein