SCARB2 variants and glucocerebrosidase activity in Parkinson's disease
Identifieur interne : 000461 ( Main/Exploration ); précédent : 000460; suivant : 000462SCARB2 variants and glucocerebrosidase activity in Parkinson's disease
Auteurs : Roy N. Alcalay [États-Unis] ; Oren A. Levy [États-Unis] ; Pavlina Wolf [États-Unis] ; Petra Oliva [États-Unis] ; Xiaokui Kate Zhang [États-Unis] ; Cheryl H. Waters [États-Unis] ; Stanley Fahn [États-Unis] ; Un Kang [États-Unis] ; Christopher Liong [États-Unis] ; Blair Ford [États-Unis] ; Pietro Mazzoni [États-Unis] ; Sheng Kuo [États-Unis] ; Amelie Johnson [Canada] ; Lan Xiong [Canada] ; Guy A. Rouleau [Canada] ; Wendy Chung [États-Unis] ; Karen S. Marder [États-Unis] ; Ziv Gan-Or [Canada]Source :
- NPJ Parkinson's disease [ 2373-8057 ] ; 2016.
Abstract
Mutations in glucocerebrosidase (
Our objective was to determine whether
The
Genotype at rs6812193 was associated with PD status. PD cases were less likely to carry the T allele than the C allele (OR=0.71; p=0.004), but GCase enzymatic activity was similar across rs6812193 genotypes (C/C: 11.88 μmol/l/h; C/T: 11.80 μmol/l/h; T/T: 12.02 μmol/l/h; p=0.867). Genotype at rs6825004 was not associated with either PD status or GCase activity.
In conclusion, our results support an association between
Url:
DOI: 10.1038/npjparkd.2016.4
PubMed: 27110593
PubMed Central: 4838276
Affiliations:
- Canada, États-Unis
- Québec, État de New York
- Montréal, New York
- Université Columbia, Université McGill
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Le document en format XML
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variants and glucocerebrosidase activity in Parkinson's disease</title>
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variants and glucocerebrosidase activity in Parkinson's disease</title>
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</affiliation>
</author>
<author><name sortKey="Ford, Blair" sort="Ford, Blair" uniqKey="Ford B" first="Blair" last="Ford">Blair Ford</name>
<affiliation wicri:level="1"><nlm:aff id="A1">Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mazzoni, Pietro" sort="Mazzoni, Pietro" uniqKey="Mazzoni P" first="Pietro" last="Mazzoni">Pietro Mazzoni</name>
<affiliation wicri:level="1"><nlm:aff id="A1">Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kuo, Sheng" sort="Kuo, Sheng" uniqKey="Kuo S" first="Sheng" last="Kuo">Sheng Kuo</name>
<affiliation wicri:level="1"><nlm:aff id="A1">Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Johnson, Amelie" sort="Johnson, Amelie" uniqKey="Johnson A" first="Amelie" last="Johnson">Amelie Johnson</name>
<affiliation wicri:level="1"><nlm:aff id="A4">Département de médicine, Université de Montréal, Montréal, QC, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Département de médicine, Université de Montréal, Montréal, QC</wicri:regionArea>
<wicri:noRegion>QC</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A5">Laboratoire de neurogénétique, Centre de recherche, Institut universitaire en santé mentale de Montréal, Montréal, QC, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Laboratoire de neurogénétique, Centre de recherche, Institut universitaire en santé mentale de Montréal, Montréal, QC</wicri:regionArea>
<wicri:noRegion>QC</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Xiong, Lan" sort="Xiong, Lan" uniqKey="Xiong L" first="Lan" last="Xiong">Lan Xiong</name>
<affiliation wicri:level="1"><nlm:aff id="A5">Laboratoire de neurogénétique, Centre de recherche, Institut universitaire en santé mentale de Montréal, Montréal, QC, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Laboratoire de neurogénétique, Centre de recherche, Institut universitaire en santé mentale de Montréal, Montréal, QC</wicri:regionArea>
<wicri:noRegion>QC</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A6">Département de psychiatrie, Université de Montréal, Montréal, QC, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Département de psychiatrie, Université de Montréal, Montréal, QC</wicri:regionArea>
<wicri:noRegion>QC</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A7">Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Neurology and Neurosurgery, McGill University, Montréal, QC</wicri:regionArea>
<orgName type="university">Université McGill</orgName>
<placeName><settlement type="city">Montréal</settlement>
<region type="state">Québec</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A" last="Rouleau">Guy A. Rouleau</name>
<affiliation wicri:level="4"><nlm:aff id="A7">Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Neurology and Neurosurgery, McGill University, Montréal, QC</wicri:regionArea>
<orgName type="university">Université McGill</orgName>
<placeName><settlement type="city">Montréal</settlement>
<region type="state">Québec</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A8">Montréal Neurological Institute & Hospital, and the Department of Human Genetics, McGill University, Montreal, QC, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Montréal Neurological Institute & Hospital, and the Department of Human Genetics, McGill University, Montreal, QC</wicri:regionArea>
<orgName type="university">Université McGill</orgName>
<placeName><settlement type="city">Montréal</settlement>
<region type="state">Québec</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Chung, Wendy" sort="Chung, Wendy" uniqKey="Chung W" first="Wendy" last="Chung">Wendy Chung</name>
<affiliation wicri:level="1"><nlm:aff id="A9">Department of Pediatrics and Medicine, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics and Medicine, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Marder, Karen S" sort="Marder, Karen S" uniqKey="Marder K" first="Karen S." last="Marder">Karen S. Marder</name>
<affiliation wicri:level="1"><nlm:aff id="A1">Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A2">Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A10">Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, NY</wicri:regionArea>
<orgName type="university">Université Columbia</orgName>
<placeName><settlement type="city">New York</settlement>
<region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gan Or, Ziv" sort="Gan Or, Ziv" uniqKey="Gan Or Z" first="Ziv" last="Gan-Or">Ziv Gan-Or</name>
<affiliation wicri:level="4"><nlm:aff id="A7">Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Neurology and Neurosurgery, McGill University, Montréal, QC</wicri:regionArea>
<orgName type="university">Université McGill</orgName>
<placeName><settlement type="city">Montréal</settlement>
<region type="state">Québec</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A8">Montréal Neurological Institute & Hospital, and the Department of Human Genetics, McGill University, Montreal, QC, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Montréal Neurological Institute & Hospital, and the Department of Human Genetics, McGill University, Montreal, QC</wicri:regionArea>
<orgName type="university">Université McGill</orgName>
<placeName><settlement type="city">Montréal</settlement>
<region type="state">Québec</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j">NPJ Parkinson's disease</title>
<idno type="eISSN">2373-8057</idno>
<imprint><date when="2016">2016</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p id="P1">Mutations in glucocerebrosidase (<italic>GBA</italic>
) are a common risk factor for Parkinson's disease (PD). The scavenger receptor class B member 2 (<italic>SCARB2</italic>
) gene encodes a receptor responsible for the transport of glucocerebrosidase (GCase) to the lysosome. Two common SNPs in linkage disequilibrium with <italic>SCARB2</italic>
, rs6812193 and rs6825004, have been associated with PD and Lewy Body Disease in genome wide association studies. Whether these SNPs are associated with altered glucocerebrosidase enzymatic activity is unknown.</p>
<p id="P2">Our objective was to determine whether <italic>SCARB2</italic>
SNPs are associated with PD and with reduced GCase activity.</p>
<p id="P3">The <italic>GBA</italic>
gene was fully sequenced, and the <italic>LRRK2</italic>
G2019S and <italic>SCARB2</italic>
rs6812193 and rs6825004 SNPs were genotyped in 548 PD patients and 272 controls. GCase activity in dried blood spots was measured by tandem mass spectrometry. We tested the association between <italic>SCARB2</italic>
genotypes and PD risk in regression models adjusted for gender, age, and <italic>LRRK2</italic>
G2019S and <italic>GBA</italic>
mutation status. We compared GCase activity between participants with different genotypes at rs6812193 and rs6825004.</p>
<p id="P4">Genotype at rs6812193 was associated with PD status. PD cases were less likely to carry the T allele than the C allele (OR=0.71; p=0.004), but GCase enzymatic activity was similar across rs6812193 genotypes (C/C: 11.88 μmol/l/h; C/T: 11.80 μmol/l/h; T/T: 12.02 μmol/l/h; p=0.867). Genotype at rs6825004 was not associated with either PD status or GCase activity.</p>
<p id="P5">In conclusion, our results support an association between <italic>SCARB2</italic>
genotype at rs6812193 and PD, but suggest that the increased risk is not mediated by GCase activity.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Canada</li>
<li>États-Unis</li>
</country>
<region><li>Québec</li>
<li>État de New York</li>
</region>
<settlement><li>Montréal</li>
<li>New York</li>
</settlement>
<orgName><li>Université Columbia</li>
<li>Université McGill</li>
</orgName>
</list>
<tree><country name="États-Unis"><noRegion><name sortKey="Alcalay, Roy N" sort="Alcalay, Roy N" uniqKey="Alcalay R" first="Roy N." last="Alcalay">Roy N. Alcalay</name>
</noRegion>
<name sortKey="Alcalay, Roy N" sort="Alcalay, Roy N" uniqKey="Alcalay R" first="Roy N." last="Alcalay">Roy N. Alcalay</name>
<name sortKey="Chung, Wendy" sort="Chung, Wendy" uniqKey="Chung W" first="Wendy" last="Chung">Wendy Chung</name>
<name sortKey="Fahn, Stanley" sort="Fahn, Stanley" uniqKey="Fahn S" first="Stanley" last="Fahn">Stanley Fahn</name>
<name sortKey="Ford, Blair" sort="Ford, Blair" uniqKey="Ford B" first="Blair" last="Ford">Blair Ford</name>
<name sortKey="Kang, Un" sort="Kang, Un" uniqKey="Kang U" first="Un" last="Kang">Un Kang</name>
<name sortKey="Kuo, Sheng" sort="Kuo, Sheng" uniqKey="Kuo S" first="Sheng" last="Kuo">Sheng Kuo</name>
<name sortKey="Levy, Oren A" sort="Levy, Oren A" uniqKey="Levy O" first="Oren A." last="Levy">Oren A. Levy</name>
<name sortKey="Levy, Oren A" sort="Levy, Oren A" uniqKey="Levy O" first="Oren A." last="Levy">Oren A. Levy</name>
<name sortKey="Liong, Christopher" sort="Liong, Christopher" uniqKey="Liong C" first="Christopher" last="Liong">Christopher Liong</name>
<name sortKey="Marder, Karen S" sort="Marder, Karen S" uniqKey="Marder K" first="Karen S." last="Marder">Karen S. Marder</name>
<name sortKey="Marder, Karen S" sort="Marder, Karen S" uniqKey="Marder K" first="Karen S." last="Marder">Karen S. Marder</name>
<name sortKey="Marder, Karen S" sort="Marder, Karen S" uniqKey="Marder K" first="Karen S." last="Marder">Karen S. Marder</name>
<name sortKey="Mazzoni, Pietro" sort="Mazzoni, Pietro" uniqKey="Mazzoni P" first="Pietro" last="Mazzoni">Pietro Mazzoni</name>
<name sortKey="Oliva, Petra" sort="Oliva, Petra" uniqKey="Oliva P" first="Petra" last="Oliva">Petra Oliva</name>
<name sortKey="Waters, Cheryl H" sort="Waters, Cheryl H" uniqKey="Waters C" first="Cheryl H." last="Waters">Cheryl H. Waters</name>
<name sortKey="Wolf, Pavlina" sort="Wolf, Pavlina" uniqKey="Wolf P" first="Pavlina" last="Wolf">Pavlina Wolf</name>
<name sortKey="Zhang, Xiaokui Kate" sort="Zhang, Xiaokui Kate" uniqKey="Zhang X" first="Xiaokui Kate" last="Zhang">Xiaokui Kate Zhang</name>
</country>
<country name="Canada"><noRegion><name sortKey="Johnson, Amelie" sort="Johnson, Amelie" uniqKey="Johnson A" first="Amelie" last="Johnson">Amelie Johnson</name>
</noRegion>
<name sortKey="Gan Or, Ziv" sort="Gan Or, Ziv" uniqKey="Gan Or Z" first="Ziv" last="Gan-Or">Ziv Gan-Or</name>
<name sortKey="Gan Or, Ziv" sort="Gan Or, Ziv" uniqKey="Gan Or Z" first="Ziv" last="Gan-Or">Ziv Gan-Or</name>
<name sortKey="Johnson, Amelie" sort="Johnson, Amelie" uniqKey="Johnson A" first="Amelie" last="Johnson">Amelie Johnson</name>
<name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A" last="Rouleau">Guy A. Rouleau</name>
<name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A" last="Rouleau">Guy A. Rouleau</name>
<name sortKey="Xiong, Lan" sort="Xiong, Lan" uniqKey="Xiong L" first="Lan" last="Xiong">Lan Xiong</name>
<name sortKey="Xiong, Lan" sort="Xiong, Lan" uniqKey="Xiong L" first="Lan" last="Xiong">Lan Xiong</name>
<name sortKey="Xiong, Lan" sort="Xiong, Lan" uniqKey="Xiong L" first="Lan" last="Xiong">Lan Xiong</name>
</country>
</tree>
</affiliations>
</record>
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