Parkinson's Disease Genetic Loci in Rapid Eye Movement Sleep Behavior Disorder.
Identifieur interne : 000602 ( Main/Exploration ); précédent : 000601; suivant : 000603Parkinson's Disease Genetic Loci in Rapid Eye Movement Sleep Behavior Disorder.
Auteurs : Z. Gan-Or [Canada] ; S L Girard ; A. Noreau ; C S Leblond ; J F Gagnon ; I. Arnulf ; C. Mirarchi ; Y. Dauvilliers ; A. Desautels ; T. Mitterling ; V. Cochen De Cock ; B. Frauscher ; C. Monaca ; B. Hogl ; P A Dion ; R B Postuma ; J Y Montplaisir ; G A RouleauSource :
- Journal of molecular neuroscience : MN [ 1559-1166 ] ; 2015.
English descriptors
- KwdEn :
- Aged, Case-Control Studies, Female, Genetic Loci, Humans, Lysosome-Associated Membrane Glycoproteins (genetics), Male, Middle Aged, Parkinson Disease (genetics), Polymorphism, Single Nucleotide, REM Sleep Behavior Disorder (genetics), Receptors, Scavenger (genetics), Ubiquitin Thiolesterase (genetics), tau Proteins (genetics).
- MESH :
- chemical , genetics : Lysosome-Associated Membrane Glycoproteins, Receptors, Scavenger, Ubiquitin Thiolesterase, tau Proteins.
- genetics : Parkinson Disease, REM Sleep Behavior Disorder.
- Aged, Case-Control Studies, Female, Genetic Loci, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide.
Abstract
Rapid eye movement (REM) sleep behavior disorder (RBD) is a prodromal condition for Parkinson's disease (PD) and other synucleinopathies, which often occurs many years before the onset of PD. We analyzed 261 RBD patients and 379 controls for nine PD-associated SNPs and examined their effects, first upon on RBD risk and second, on eventual progression to synucleinopathies in a prospective follow-up in a subset of patients. The SCARB2 rs6812193 (OR = 0.67, 95 % CI = 0.51-0.88, p = 0.004) and the MAPT rs12185268 (OR-0.43, 95 % CI-0.26-0.72, p = 0.001) were associated with RBD in different models. Kaplan-Meier survival analysis in a subset of RBD patients (n = 56), demonstrated that homozygous carriers of the USP25 rs2823357 SNP had progressed to synucleinopathies faster than others (log-rank p = 0.003, Breslow p = 0.005, Tarone-Ware p = 0.004). As a proof-of-concept study, these results suggest that RBD may be associated with at least a subset of PD-associated genes, and demonstrate that combining genetic and prodromal clinical data may help identifying individuals that are either more or less susceptible to develop synucleinopathies. More studies are necessary to replicate these results, and identify more genetic factors affecting progression from RBD to synucleinopathies.
DOI: 10.1007/s12031-015-0569-7
PubMed: 25929833
Affiliations:
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Gan-Or</name><affiliation wicri:level="1"><nlm:affiliation>Montreal Neurological Institute and McGill University, Montréal, QC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Montreal Neurological Institute and McGill University, Montréal, QC</wicri:regionArea><wicri:noRegion>QC</wicri:noRegion></affiliation></author><author><name sortKey="Girard, S L" sort="Girard, S L" uniqKey="Girard S" first="S L" last="Girard">S L Girard</name></author><author><name sortKey="Noreau, A" sort="Noreau, A" uniqKey="Noreau A" first="A" last="Noreau">A. Noreau</name></author><author><name sortKey="Leblond, C S" sort="Leblond, C S" uniqKey="Leblond C" first="C S" last="Leblond">C S Leblond</name></author><author><name sortKey="Gagnon, J F" sort="Gagnon, J F" uniqKey="Gagnon J" first="J F" last="Gagnon">J F Gagnon</name></author><author><name sortKey="Arnulf, I" sort="Arnulf, I" uniqKey="Arnulf I" first="I" last="Arnulf">I. Arnulf</name></author><author><name sortKey="Mirarchi, C" sort="Mirarchi, C" uniqKey="Mirarchi C" first="C" last="Mirarchi">C. Mirarchi</name></author><author><name sortKey="Dauvilliers, Y" sort="Dauvilliers, Y" uniqKey="Dauvilliers Y" first="Y" last="Dauvilliers">Y. Dauvilliers</name></author><author><name sortKey="Desautels, A" sort="Desautels, A" uniqKey="Desautels A" first="A" last="Desautels">A. Desautels</name></author><author><name sortKey="Mitterling, T" sort="Mitterling, T" uniqKey="Mitterling T" first="T" last="Mitterling">T. Mitterling</name></author><author><name sortKey="Cochen De Cock, V" sort="Cochen De Cock, V" uniqKey="Cochen De Cock V" first="V" last="Cochen De Cock">V. Cochen De Cock</name></author><author><name sortKey="Frauscher, B" sort="Frauscher, B" uniqKey="Frauscher B" first="B" last="Frauscher">B. Frauscher</name></author><author><name sortKey="Monaca, C" sort="Monaca, C" uniqKey="Monaca C" first="C" last="Monaca">C. Monaca</name></author><author><name sortKey="Hogl, B" sort="Hogl, B" uniqKey="Hogl B" first="B" last="Hogl">B. Hogl</name></author><author><name sortKey="Dion, P A" sort="Dion, P A" uniqKey="Dion P" first="P A" last="Dion">P A Dion</name></author><author><name sortKey="Postuma, R B" sort="Postuma, R B" uniqKey="Postuma R" first="R B" last="Postuma">R B Postuma</name></author><author><name sortKey="Montplaisir, J Y" sort="Montplaisir, J Y" uniqKey="Montplaisir J" first="J Y" last="Montplaisir">J Y Montplaisir</name></author><author><name sortKey="Rouleau, G A" sort="Rouleau, G A" uniqKey="Rouleau G" first="G A" last="Rouleau">G A Rouleau</name></author></analytic><series><title level="j">Journal of molecular neuroscience : MN</title><idno type="eISSN">1559-1166</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Case-Control Studies</term><term>Female</term><term>Genetic Loci</term><term>Humans</term><term>Lysosome-Associated Membrane Glycoproteins (genetics)</term><term>Male</term><term>Middle Aged</term><term>Parkinson Disease (genetics)</term><term>Polymorphism, Single Nucleotide</term><term>REM Sleep Behavior Disorder (genetics)</term><term>Receptors, Scavenger (genetics)</term><term>Ubiquitin Thiolesterase (genetics)</term><term>tau Proteins (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Lysosome-Associated Membrane Glycoproteins</term><term>Receptors, Scavenger</term><term>Ubiquitin Thiolesterase</term><term>tau Proteins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term><term>REM Sleep Behavior Disorder</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Case-Control Studies</term><term>Female</term><term>Genetic Loci</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Polymorphism, Single Nucleotide</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Rapid eye movement (REM) sleep behavior disorder (RBD) is a prodromal condition for Parkinson's disease (PD) and other synucleinopathies, which often occurs many years before the onset of PD. We analyzed 261 RBD patients and 379 controls for nine PD-associated SNPs and examined their effects, first upon on RBD risk and second, on eventual progression to synucleinopathies in a prospective follow-up in a subset of patients. The SCARB2 rs6812193 (OR = 0.67, 95 % CI = 0.51-0.88, p = 0.004) and the MAPT rs12185268 (OR-0.43, 95 % CI-0.26-0.72, p = 0.001) were associated with RBD in different models. Kaplan-Meier survival analysis in a subset of RBD patients (n = 56), demonstrated that homozygous carriers of the USP25 rs2823357 SNP had progressed to synucleinopathies faster than others (log-rank p = 0.003, Breslow p = 0.005, Tarone-Ware p = 0.004). As a proof-of-concept study, these results suggest that RBD may be associated with at least a subset of PD-associated genes, and demonstrate that combining genetic and prodromal clinical data may help identifying individuals that are either more or less susceptible to develop synucleinopathies. More studies are necessary to replicate these results, and identify more genetic factors affecting progression from RBD to synucleinopathies.</div></front></TEI><affiliations><list><country><li>Canada</li></country></list><tree><noCountry><name sortKey="Arnulf, I" sort="Arnulf, I" uniqKey="Arnulf I" first="I" last="Arnulf">I. Arnulf</name><name sortKey="Cochen De Cock, V" sort="Cochen De Cock, V" uniqKey="Cochen De Cock V" first="V" last="Cochen De Cock">V. Cochen De Cock</name><name sortKey="Dauvilliers, Y" sort="Dauvilliers, Y" uniqKey="Dauvilliers Y" first="Y" last="Dauvilliers">Y. Dauvilliers</name><name sortKey="Desautels, A" sort="Desautels, A" uniqKey="Desautels A" first="A" last="Desautels">A. Desautels</name><name sortKey="Dion, P A" sort="Dion, P A" uniqKey="Dion P" first="P A" last="Dion">P A Dion</name><name sortKey="Frauscher, B" sort="Frauscher, B" uniqKey="Frauscher B" first="B" last="Frauscher">B. Frauscher</name><name sortKey="Gagnon, J F" sort="Gagnon, J F" uniqKey="Gagnon J" first="J F" last="Gagnon">J F Gagnon</name><name sortKey="Girard, S L" sort="Girard, S L" uniqKey="Girard S" first="S L" last="Girard">S L Girard</name><name sortKey="Hogl, B" sort="Hogl, B" uniqKey="Hogl B" first="B" last="Hogl">B. Hogl</name><name sortKey="Leblond, C S" sort="Leblond, C S" uniqKey="Leblond C" first="C S" last="Leblond">C S Leblond</name><name sortKey="Mirarchi, C" sort="Mirarchi, C" uniqKey="Mirarchi C" first="C" last="Mirarchi">C. Mirarchi</name><name sortKey="Mitterling, T" sort="Mitterling, T" uniqKey="Mitterling T" first="T" last="Mitterling">T. Mitterling</name><name sortKey="Monaca, C" sort="Monaca, C" uniqKey="Monaca C" first="C" last="Monaca">C. Monaca</name><name sortKey="Montplaisir, J Y" sort="Montplaisir, J Y" uniqKey="Montplaisir J" first="J Y" last="Montplaisir">J Y Montplaisir</name><name sortKey="Noreau, A" sort="Noreau, A" uniqKey="Noreau A" first="A" last="Noreau">A. Noreau</name><name sortKey="Postuma, R B" sort="Postuma, R B" uniqKey="Postuma R" first="R B" last="Postuma">R B Postuma</name><name sortKey="Rouleau, G A" sort="Rouleau, G A" uniqKey="Rouleau G" first="G A" last="Rouleau">G A Rouleau</name></noCountry><country name="Canada"><noRegion><name sortKey="Gan Or, Z" sort="Gan Or, Z" uniqKey="Gan Or Z" first="Z" last="Gan-Or">Z. Gan-Or</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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