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Do polymorphisms in the familial Parkinsonism genes contribute to risk for sporadic Parkinson's disease?
Mov Disord. 2009 Apr 30; 24(6):833-8.MD

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.

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Authors+Show Affiliations

Sutherland GT
Eskitis Institute for Cell and Molecular Therapies, School of Biomolecular and Physical Sciences, Griffith University, Brisbane, Queensland, Australia.
Halliday GM
No affiliation info available
Silburn PA
No affiliation info available
Mastaglia FL
No affiliation info available
Rowe DB
No affiliation info available
Boyle RS
No affiliation info available
O'Sullivan JD
No affiliation info available
Ly T
No affiliation info available
Wilton SD
No affiliation info available
Mellick GD
No affiliation info available

MeSH

AgedAustraliaFemaleGene FrequencyGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeGlucosylceramidaseHigh-Temperature Requirement A Serine Peptidase 2HumansIntracellular Signaling Peptides and ProteinsLeucine-Rich Repeat Serine-Threonine Protein Kinase-2MaleMitochondrial ProteinsOncogene ProteinsParkinson DiseaseParkinsonian DisordersPolymorphism, GeneticProtein Deglycase DJ-1Protein KinasesProtein-Serine-Threonine KinasesProton-Translocating ATPasesRetrospective StudiesSerine EndopeptidasesUbiquitin ThiolesteraseUbiquitin-Protein Ligasesalpha-Synucleintau Proteins

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

19224617

Citation

Sutherland, Greg T., et al. "Do Polymorphisms in the Familial Parkinsonism Genes Contribute to Risk for Sporadic Parkinson's Disease?" Movement Disorders : Official Journal of the Movement Disorder Society, vol. 24, no. 6, 2009, pp. 833-8.
Sutherland GT, Halliday GM, Silburn PA, et al. Do polymorphisms in the familial Parkinsonism genes contribute to risk for sporadic Parkinson's disease? Mov Disord. 2009;24(6):833-8.
Sutherland, G. T., Halliday, G. M., Silburn, P. A., Mastaglia, F. L., Rowe, D. B., Boyle, R. S., O'Sullivan, J. D., Ly, T., Wilton, S. D., & Mellick, G. D. (2009). Do polymorphisms in the familial Parkinsonism genes contribute to risk for sporadic Parkinson's disease? Movement Disorders : Official Journal of the Movement Disorder Society, 24(6), 833-8. https://doi.org/10.1002/mds.22214
Sutherland GT, et al. Do Polymorphisms in the Familial Parkinsonism Genes Contribute to Risk for Sporadic Parkinson's Disease. Mov Disord. 2009 Apr 30;24(6):833-8. PubMed PMID: 19224617.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Do polymorphisms in the familial Parkinsonism genes contribute to risk for sporadic Parkinson's disease? AU - Sutherland,Greg T, AU - Halliday,Glenda M, AU - Silburn,Peter A, AU - Mastaglia,Frank L, AU - Rowe,Dominic B, AU - Boyle,Richard S, AU - O'Sullivan,John D, AU - Ly,Tina, AU - Wilton,Steve D, AU - Mellick,George D, PY - 2009/2/19/entrez PY - 2009/2/19/pubmed PY - 2009/7/30/medline SP - 833 EP - 8 JF - Movement disorders : official journal of the Movement Disorder Society JO - Mov Disord VL - 24 IS - 6 N2 - 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. SN - 1531-8257 UR - https://www.unboundmedicine.com/medline/citation/19224617/Do_polymorphisms_in_the_familial_Parkinsonism_genes_contribute_to_risk_for_sporadic_Parkinson's_disease L2 - https://doi.org/10.1002/mds.22214 DB - PRIME DP - Unbound Medicine ER -