Do Polymorphisms in the Familial Parkinsonism Genes Contribute to Risk for Sporadic Parkinson's Disease?

Sutherland, GT, Halliday, GM, Silburn, PA, Mastaglia, FL, Rowe, DB, Boyle, RS, O'Sullivan, JD, Ly, T, Wilton, SD and Mellick, GD (2009) Do Polymorphisms in the Familial Parkinsonism Genes Contribute to Risk for Sporadic Parkinson's Disease?. MOVEMENT DISORDERS, 24 6: 833-838. doi:10.1002/mds.22214


Author Sutherland, GT
Halliday, GM
Silburn, PA
Mastaglia, FL
Rowe, DB
Boyle, RS
O'Sullivan, JD
Ly, T
Wilton, SD
Mellick, GD
Title Do Polymorphisms in the Familial Parkinsonism Genes Contribute to Risk for Sporadic Parkinson's Disease?
Journal name MOVEMENT DISORDERS   Check publisher's open access policy
ISSN 0885-3185
Publication date 2009-04-01
Year available 2009
Sub-type Article (original research)
DOI 10.1002/mds.22214
Open Access Status
Volume 24
Issue 6
Start page 833
End page 838
Total pages 6
Place of publication United States
Publisher John Wiley & Sons, Inc.
Language eng
Subject C1
Abstract Recent whole genome association studies provided little evidence that polymorphisms at the familial Parkinsonism loci influence the risk for Parkinson's disease (PD). However, these studies are not designed to detect the types of subtle effects that common variants may impose. Here, we use an alternative targeted candidate gene approach to examine common variation in 11 genes related to familial Parkinsonism. PD cases (n = 331) and unaffected control subjects (n = 296) were recruited from three specialist movement disorder clinics in Brisbane, Australia and the Australian Electoral Roll. Common genetic variables (76 SNPs and 1 STR) were assessed in all subjects and haplotype, genotype, and allele associations explored. Modest associations (uncorrected P < 0.05) were observed for common variants around SNCA, UCHL1, MAPT, and LRRK2 although none were of sufficient magnitude to survive strict statistical corrections for multiple comparisons. No associations were seen for PRKN, PINK1, GBA, ATP13A2, HTRA2, NR4A2, and DJ1. Our findings suggest that common genetic variables of selected PD-related loci contribute modestly to PD risk in Australians. © 2009 Movement Disorder Society
Formatted abstract
Recent whole genome association studies provided little evidence that polymorphisms at the familial Parkinsonism loci influence the risk for Parkinson's disease (PD). However, these studies are not designed to detect the types of subtle effects that common variants may impose. Here, we use an alternative targeted candidate gene approach to examine common variation in 11 genes related to familial Parkinsonism. PD cases (n = 331) and unaffected control subjects (n = 296) were recruited from three specialist movement disorder clinics in Brisbane, Australia and the Australian Electoral Roll. Common genetic variables (76 SNPs and 1 STR) were assessed in all subjects and haplotype, genotype, and allele associations explored. Modest associations (uncorrected P < 0.05) were observed for common variants around SNCA, UCHL1, MAPT, and LRRK2 although none were of sufficient magnitude to survive strict statistical corrections for multiple comparisons. No associations were seen for PRKN, PINK1, GBA, ATP13A2, HTRA2, NR4A2, and DJ1. Our findings suggest that common genetic variables of selected PD-related loci contribute modestly to PD risk in Australians. © 2009 Movement Disorder Society
Keyword association
ALPHA-SYNUCLEIN
Q-Index Code C1
Q-Index Status Confirmed Code
Grant ID 401537
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: 2010 Higher Education Research Data Collection
School of Medicine Publications
 
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Created: Thu, 03 Sep 2009, 18:13:02 EST by Mr Andrew Martlew on behalf of Surgery - Royal Brisbane and Women's Hospital