Do polymorphisms in the familial Parkinsonism genes contribute to risk for sporadic Parkinson's disease?
Identifieur interne : 002351 ( Main/Exploration ); précédent : 002350; suivant : 002352Do polymorphisms in the familial Parkinsonism genes contribute to risk for sporadic Parkinson's disease?
Auteurs : Greg T. Sutherland [Australie] ; Glenda M. Halliday [Australie] ; Peter A. Silburn [Australie] ; Frank L. Mastaglia [Australie] ; Dominic B. Rowe [Australie] ; Richard S. Boyle [Australie] ; John D. O'Sullivan [Australie] ; Tina Ly [Australie] ; Steve D. Wilton [Australie] ; George D. Mellick [Australie]Source :
- Movement Disorders [ 0885-3185 ] ; 2009-04-30.
Descripteurs français
- Pascal (Inist)
- Wicri :
- geographic : Australie.
English descriptors
- KwdEn :
- Aged, Australia (epidemiology), Female, Gene Frequency, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Glucosylceramidase (genetics), Humans, Intracellular Signaling Peptides and Proteins (genetics), Male, Mitochondrial Proteins (genetics), Nervous system diseases, Oncogene Proteins (genetics), PD‐related genes, Parkinson Disease (genetics), Parkinson disease, Parkinson's disease, Parkinsonian Disorders (genetics), Parkinsonism, Polymorphism, Polymorphism, Genetic (genetics), Protein Kinases (genetics), Protein-Serine-Threonine Kinases (genetics), Proton-Translocating ATPases (genetics), Retrospective Studies, Risk factor, Serine Endopeptidases (genetics), Sporadic, Ubiquitin Thiolesterase (genetics), Ubiquitin-Protein Ligases (genetics), alpha-Synuclein (genetics), association, tau Proteins (genetics).
- MESH :
- chemical , genetics : Glucosylceramidase, Intracellular Signaling Peptides and Proteins, Mitochondrial Proteins, Oncogene Proteins, Protein Kinases, Protein-Serine-Threonine Kinases, Proton-Translocating ATPases, Serine Endopeptidases, Ubiquitin Thiolesterase, Ubiquitin-Protein Ligases, alpha-Synuclein, tau Proteins.
- geographic , epidemiology : Australia.
- genetics : Parkinson Disease, Parkinsonian Disorders, Polymorphism, Genetic.
- Aged, Female, Gene Frequency, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Male, Retrospective Studies.
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
Url:
DOI: 10.1002/mds.22214
Affiliations:
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Sutherland</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Eskitis Institute for Cell and Molecular Therapies, School of Biomolecular and Physical Sciences, Griffith University, Brisbane, Queensland</wicri:regionArea><wicri:noRegion>Queensland</wicri:noRegion></affiliation></author><author><name sortKey="Halliday, Glenda M" sort="Halliday, Glenda M" uniqKey="Halliday G" first="Glenda M." last="Halliday">Glenda M. Halliday</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Prince of Wales Medical Research Institute, Sydney, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation></author><author><name sortKey="Silburn, Peter A" sort="Silburn, Peter A" uniqKey="Silburn P" first="Peter A." last="Silburn">Peter A. 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Mastaglia</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Centre for Neuromuscular and Neurological Disorders, University of Western Australia, Perth, Western Australia</wicri:regionArea><wicri:noRegion>Western Australia</wicri:noRegion></affiliation></author><author><name sortKey="Rowe, Dominic B" sort="Rowe, Dominic B" uniqKey="Rowe D" first="Dominic B." last="Rowe">Dominic B. Rowe</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Neurology, Royal North Shore Hospital, Sydney, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation></author><author><name sortKey="Boyle, Richard S" sort="Boyle, Richard S" uniqKey="Boyle R" first="Richard S." last="Boyle">Richard S. 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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</div></front></TEI><affiliations><list><country><li>Australie</li></country></list><tree><country name="Australie"><noRegion><name sortKey="Sutherland, Greg T" sort="Sutherland, Greg T" uniqKey="Sutherland G" first="Greg T." last="Sutherland">Greg T. Sutherland</name></noRegion><name sortKey="Boyle, Richard S" sort="Boyle, Richard S" uniqKey="Boyle R" first="Richard S." last="Boyle">Richard S. Boyle</name><name sortKey="Halliday, Glenda M" sort="Halliday, Glenda M" uniqKey="Halliday G" first="Glenda M." last="Halliday">Glenda M. Halliday</name><name sortKey="Ly, Tina" sort="Ly, Tina" uniqKey="Ly T" first="Tina" last="Ly">Tina Ly</name><name sortKey="Mastaglia, Frank L" sort="Mastaglia, Frank L" uniqKey="Mastaglia F" first="Frank L." last="Mastaglia">Frank L. Mastaglia</name><name sortKey="Mellick, George D" sort="Mellick, George D" uniqKey="Mellick G" first="George D." last="Mellick">George D. Mellick</name><name sortKey="Mellick, George D" sort="Mellick, George D" uniqKey="Mellick G" first="George D." last="Mellick">George D. Mellick</name><name sortKey="Mellick, George D" sort="Mellick, George D" uniqKey="Mellick G" first="George D." last="Mellick">George D. Mellick</name><name sortKey="O Sullivan, John D" sort="O Sullivan, John D" uniqKey="O Sullivan J" first="John D." last="O'Sullivan">John D. O'Sullivan</name><name sortKey="O Sullivan, John D" sort="O Sullivan, John D" uniqKey="O Sullivan J" first="John D." last="O'Sullivan">John D. O'Sullivan</name><name sortKey="Rowe, Dominic B" sort="Rowe, Dominic B" uniqKey="Rowe D" first="Dominic B." last="Rowe">Dominic B. Rowe</name><name sortKey="Silburn, Peter A" sort="Silburn, Peter A" uniqKey="Silburn P" first="Peter A." last="Silburn">Peter A. Silburn</name><name sortKey="Silburn, Peter A" sort="Silburn, Peter A" uniqKey="Silburn P" first="Peter A." last="Silburn">Peter A. Silburn</name><name sortKey="Wilton, Steve D" sort="Wilton, Steve D" uniqKey="Wilton S" first="Steve D." last="Wilton">Steve D. Wilton</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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