MovDisordV3, Main, Merge, bibRecord, 003008

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

Identifieur interne : 003008 ( Main/Merge ); précédent : 003007; suivant : 003009

Do 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.

RBID : Pascal:09-0223192

Descripteurs français

Pascal (Inist)
- Parkinsonisme, Maladie de Parkinson, Pathologie du système nerveux, Polymorphisme, Facteur risque, Sporadique.

English descriptors

KwdEn :
- Nervous system diseases, Parkinson disease, Parkinsonism, Polymorphism, Risk factor, Sporadic.

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, PINKI, GBA, ATP13A2, HTRA2, NR4A2, and DJI. Our findings suggest that common genetic variables of selected PD-related loci contribute modestly to PD risk in Australians.

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Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Do Polymorphisms in the Familial Parkinsonism Genes Contribute to Risk for Sporadic Parkinson's Disease?</title>
<author><name sortKey="Sutherland, Greg T" sort="Sutherland, Greg T" uniqKey="Sutherland G" first="Greg T." last="Sutherland">Greg T. Sutherland</name>
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<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"><inist:fA14 i1="02"><s1>Prince of Wales Medical Research Institute</s1>
<s2>Sydney, New South Wales</s2>
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<country>Australie</country>
<wicri:noRegion>Prince of Wales Medical Research Institute</wicri:noRegion>
</affiliation>
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<author><name sortKey="Silburn, Peter A" sort="Silburn, Peter A" uniqKey="Silburn P" first="Peter A." last="Silburn">Peter A. Silburn</name>
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<author><name sortKey="Mastaglia, Frank L" sort="Mastaglia, Frank L" uniqKey="Mastaglia F" first="Frank L." last="Mastaglia">Frank L. Mastaglia</name>
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<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"><inist:fA14 i1="05"><s1>Department of Neurology, Royal North Shore Hospital</s1>
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<s3>AUS</s3>
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<author><name sortKey="Boyle, Richard S" sort="Boyle, Richard S" uniqKey="Boyle R" first="Richard S." last="Boyle">Richard S. Boyle</name>
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</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Neurology, Royal Brisbane and Women's Hospital</s1>
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<s3>AUS</s3>
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<sZ>10 aut.</sZ>
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<wicri:noRegion>Brisbane, Queensland</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ly, Tina" sort="Ly, Tina" uniqKey="Ly T" first="Tina" last="Ly">Tina Ly</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Centre for Neuromuscular and Neurological Disorders, University of Western Australia</s1>
<s2>Perth, Western Australia</s2>
<s3>AUS</s3>
<sZ>4 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Perth, Western Australia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Wilton, Steve D" sort="Wilton, Steve D" uniqKey="Wilton S" first="Steve D." last="Wilton">Steve D. Wilton</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Centre for Neuromuscular and Neurological Disorders, University of Western Australia</s1>
<s2>Perth, Western Australia</s2>
<s3>AUS</s3>
<sZ>4 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Perth, Western Australia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mellick, George D" sort="Mellick, George D" uniqKey="Mellick G" first="George D." last="Mellick">George D. Mellick</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Eskitis Institute for Cell and Molecular Therapies, School of Biomolecular and Physical Sciences, Griffith University</s1>
<s2>Brisbane, Queensland</s2>
<s3>AUS</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Brisbane, Queensland</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Neurology, Princess Alexandra Hospital</s1>
<s2>Brisbane, Queensland</s2>
<s3>AUS</s3>
<sZ>6 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Brisbane, Queensland</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Neurology, Royal Brisbane and Women's Hospital</s1>
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<s3>AUS</s3>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Brisbane, Queensland</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
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<idno type="ISSN">0885-3185</idno>
<imprint><date when="2009">2009</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Nervous system diseases</term>
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<term>Parkinsonism</term>
<term>Polymorphism</term>
<term>Risk factor</term>
<term>Sporadic</term>
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<keywords scheme="Pascal" xml:lang="fr"><term>Parkinsonisme</term>
<term>Maladie de Parkinson</term>
<term>Pathologie du   système nerveux</term>
<term>Polymorphisme</term>
<term>Facteur risque</term>
<term>Sporadique</term>
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<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, PINKI, GBA, ATP13A2, HTRA2, NR4A2, and DJI. Our findings suggest that common genetic variables of selected PD-related loci contribute modestly to PD risk in Australians.</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>

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	Movement Disorders (revue)
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Movement Disorders (revue)

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

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

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English descriptors

Abstract

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