Do polymorphisms in the familial Parkinsonism genes contribute to risk for sporadic Parkinson's disease?
Identifieur interne : 002568 ( Ncbi/Curation ); précédent : 002567; suivant : 002569Do polymorphisms in the familial Parkinsonism genes contribute to risk for sporadic Parkinson's disease?
Auteurs : Greg T. Sutherland [Australie] ; Glenda M. Halliday ; Peter A. Silburn ; Frank L. Mastaglia ; Dominic B. Rowe ; Richard S. Boyle ; John D. O'Sullivan ; Tina Ly ; Steve D. Wilton ; George D. MellickSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2009.
Descripteurs français
- 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), Oncogene Proteins (genetics), Parkinson Disease (genetics), Parkinsonian Disorders (genetics), Polymorphism, Genetic (genetics), Protein Kinases (genetics), Protein-Serine-Threonine Kinases (genetics), Proton-Translocating ATPases (genetics), Retrospective Studies, Serine Endopeptidases (genetics), Ubiquitin Thiolesterase (genetics), Ubiquitin-Protein Ligases (genetics), alpha-Synuclein (genetics), 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.
DOI: 10.1002/mds.22214
PubMed: 19224617
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Halliday</name></author><author><name sortKey="Silburn, Peter A" sort="Silburn, Peter A" uniqKey="Silburn P" first="Peter A" last="Silburn">Peter A. Silburn</name></author><author><name sortKey="Mastaglia, Frank L" sort="Mastaglia, Frank L" uniqKey="Mastaglia F" first="Frank L" last="Mastaglia">Frank L. Mastaglia</name></author><author><name sortKey="Rowe, Dominic B" sort="Rowe, Dominic B" uniqKey="Rowe D" first="Dominic B" last="Rowe">Dominic B. Rowe</name></author><author><name sortKey="Boyle, Richard S" sort="Boyle, Richard S" uniqKey="Boyle R" first="Richard S" last="Boyle">Richard S. Boyle</name></author><author><name sortKey="O Sullivan, John D" sort="O Sullivan, John D" uniqKey="O Sullivan J" first="John D" last="O'Sullivan">John D. 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Sutherland</name><affiliation wicri:level="1"><nlm:affiliation>Eskitis Institute for Cell and Molecular Therapies, School of Biomolecular and Physical Sciences, Griffith University, Brisbane, Queensland, Australia.</nlm:affiliation><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></author><author><name sortKey="Silburn, Peter A" sort="Silburn, Peter A" uniqKey="Silburn P" first="Peter A" last="Silburn">Peter A. Silburn</name></author><author><name sortKey="Mastaglia, Frank L" sort="Mastaglia, Frank L" uniqKey="Mastaglia F" first="Frank L" last="Mastaglia">Frank L. Mastaglia</name></author><author><name sortKey="Rowe, Dominic B" sort="Rowe, Dominic B" uniqKey="Rowe D" first="Dominic B" last="Rowe">Dominic B. Rowe</name></author><author><name sortKey="Boyle, Richard S" sort="Boyle, Richard S" uniqKey="Boyle R" first="Richard S" last="Boyle">Richard S. Boyle</name></author><author><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></author><author><name sortKey="Ly, Tina" sort="Ly, Tina" uniqKey="Ly T" first="Tina" last="Ly">Tina Ly</name></author><author><name sortKey="Wilton, Steve D" sort="Wilton, Steve D" uniqKey="Wilton S" first="Steve D" last="Wilton">Steve D. Wilton</name></author><author><name sortKey="Mellick, George D" sort="Mellick, George D" uniqKey="Mellick G" first="George D" last="Mellick">George D. Mellick</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2009" type="published">2009</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Australia (epidemiology)</term><term>Female</term><term>Gene Frequency</term><term>Genetic Predisposition to Disease</term><term>Genome-Wide Association Study</term><term>Genotype</term><term>Glucosylceramidase (genetics)</term><term>Humans</term><term>Intracellular Signaling Peptides and Proteins (genetics)</term><term>Male</term><term>Mitochondrial Proteins (genetics)</term><term>Oncogene Proteins (genetics)</term><term>Parkinson Disease (genetics)</term><term>Parkinsonian Disorders (genetics)</term><term>Polymorphism, Genetic (genetics)</term><term>Protein Kinases (genetics)</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Proton-Translocating ATPases (genetics)</term><term>Retrospective Studies</term><term>Serine Endopeptidases (genetics)</term><term>Ubiquitin Thiolesterase (genetics)</term><term>Ubiquitin-Protein Ligases (genetics)</term><term>alpha-Synuclein (genetics)</term><term>tau Proteins (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Glucosylceramidase</term><term>Intracellular Signaling Peptides and Proteins</term><term>Mitochondrial Proteins</term><term>Oncogene Proteins</term><term>Protein Kinases</term><term>Protein-Serine-Threonine Kinases</term><term>Proton-Translocating ATPases</term><term>Serine Endopeptidases</term><term>Ubiquitin Thiolesterase</term><term>Ubiquitin-Protein Ligases</term><term>alpha-Synuclein</term><term>tau Proteins</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Australia</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term><term>Parkinsonian Disorders</term><term>Polymorphism, Genetic</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Female</term><term>Gene Frequency</term><term>Genetic Predisposition to Disease</term><term>Genome-Wide Association Study</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Retrospective Studies</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Australie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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