Movement Disorders (revue)

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

Identifieur interne : 000F11 ( PascalFrancis/Checkpoint ); précédent : 000F10; suivant : 000F12

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 :

RBID : Pascal:09-0223192

Descripteurs français

English descriptors

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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Pascal:09-0223192

Le document en format XML

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</fA14>
<fA14 i1="07">
<s1>Department of Neurology, Royal Brisbane and Women's Hospital</s1>
<s2>Brisbane, Queensland</s2>
<s3>AUS</s3>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
</fA14>
<fA20>
<s1>833-838</s1>
</fA20>
<fA21>
<s1>2009</s1>
</fA21>
<fA23 i1="01">
<s0>ENG</s0>
</fA23>
<fA43 i1="01">
<s1>INIST</s1>
<s2>20953</s2>
<s5>354000186181820060</s5>
</fA43>
<fA44>
<s0>0000</s0>
<s1>© 2009 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45>
<s0>32 ref.</s0>
</fA45>
<fA47 i1="01" i2="1">
<s0>09-0223192</s0>
</fA47>
<fA60>
<s1>P</s1>
</fA60>
<fA61>
<s0>A</s0>
</fA61>
<fA64 i1="01" i2="1">
<s0>Movement disorders</s0>
</fA64>
<fA66 i1="01">
<s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG">
<s0>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.</s0>
</fC01>
<fC02 i1="01" i2="X">
<s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X">
<s0>002B17G</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE">
<s0>Parkinsonisme</s0>
<s2>NM</s2>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG">
<s0>Parkinsonism</s0>
<s2>NM</s2>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA">
<s0>Parkinson síndrome</s0>
<s2>NM</s2>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE">
<s0>Maladie de Parkinson</s0>
<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG">
<s0>Parkinson disease</s0>
<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA">
<s0>Parkinson enfermedad</s0>
<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE">
<s0>Pathologie du système nerveux</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG">
<s0>Nervous system diseases</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA">
<s0>Sistema nervioso patología</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE">
<s0>Polymorphisme</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG">
<s0>Polymorphism</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA">
<s0>Polimorfismo</s0>
<s5>09</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE">
<s0>Facteur risque</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG">
<s0>Risk factor</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA">
<s0>Factor riesgo</s0>
<s5>10</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE">
<s0>Sporadique</s0>
<s5>11</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG">
<s0>Sporadic</s0>
<s5>11</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA">
<s0>Esporádico</s0>
<s5>11</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE">
<s0>Pathologie de l'encéphale</s0>
<s5>38</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG">
<s0>Cerebral disorder</s0>
<s5>38</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA">
<s0>Encéfalo patología</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE">
<s0>Syndrome extrapyramidal</s0>
<s5>39</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG">
<s0>Extrapyramidal syndrome</s0>
<s5>39</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA">
<s0>Extrapiramidal síndrome</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE">
<s0>Maladie dégénérative</s0>
<s5>40</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG">
<s0>Degenerative disease</s0>
<s5>40</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA">
<s0>Enfermedad degenerativa</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE">
<s0>Pathologie du système nerveux central</s0>
<s5>41</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG">
<s0>Central nervous system disease</s0>
<s5>41</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA">
<s0>Sistema nervosio central patología</s0>
<s5>41</s5>
</fC07>
<fN21>
<s1>166</s1>
</fN21>
<fN44 i1="01">
<s1>OTO</s1>
</fN44>
<fN82>
<s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
<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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