Associations between multiple system atrophy and polymorphisms of SLC1A4, SQSTM1, and EIF4EBP1 genes.
Identifieur interne : 002235 ( PubMed/Curation ); précédent : 002234; suivant : 002236Associations between multiple system atrophy and polymorphisms of SLC1A4, SQSTM1, and EIF4EBP1 genes.
Auteurs : Hiroyuki Soma [Japon] ; Ichiro Yabe ; Asako Takei ; Naoto Fujiki ; Tetsuro Yanagihara ; Hidenao SasakiSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.
English descriptors
- KwdEn :
- Adaptor Proteins, Signal Transducing (genetics), Adult, Aged, Alleles, Excitatory Amino Acid Transporter 3 (genetics), Female, Gene Frequency (genetics), Genotype, Haplotypes, Humans, Linkage Disequilibrium (genetics), Male, Middle Aged, Multiple System Atrophy (genetics), Oxidative Stress (genetics), Phosphoproteins (genetics), Polymorphism, Single Nucleotide (genetics).
- MESH :
- chemical , genetics : Adaptor Proteins, Signal Transducing, Excitatory Amino Acid Transporter 3, Phosphoproteins.
- genetics : Gene Frequency, Linkage Disequilibrium, Multiple System Atrophy, Oxidative Stress, Polymorphism, Single Nucleotide.
- Adult, Aged, Alleles, Female, Genotype, Haplotypes, Humans, Male, Middle Aged.
Abstract
Multiple system atrophy (MSA) is an adult-onset sporadic neurodegenerative disease. Although the etiology of MSA remains obscure, recent studies suggest that oxidative stress is associated with the pathogenesis of MSA. The aim of this study was to evaluate genetic associations between the candidate genes involved in oxidative stress and MSA in a case-control study. We examined 119 Japanese patients with MSA and 123 controls, and genotyped single-nucleotide polymorphisms (SNPs) of the following eight genes: CCAAT/enhancer-binding protein homologous protein, activating transcription factor 3, CCAAT/enhancer-binding protein-beta, sequestosome 1 (SQSTM1), cysteinyl-tRNA synthetase, solute carrier family 1A4 (SLC1A4), activating transcription factor 4, and eukaryotic translation initiation factor 4E-binding protein 1 (EIF4EBP1). SLC1A4 SNP +28833 (V398I, rs759458, genotype: Pc = 0.0186, allele: Pc = 0.0303, Pc: P-value with Bonferroni correction), two major haplotypes of SLC1A4 "T-C-C-G" and "T-C-T-A" (Pc = 0.0261 and 0.000768), two-SNP haplotypes of SQSTM1 "C-T" and "A-T" (Pc = 0.0136 and 0.0369), and the most common haplotype of EIF4EBP1 "C-T-G-C" (Pc = 0.0480) showed significant associations. This study revealed genetic associations of SLC1A4, SQSTM1, and EIF4EBP1 with MSA. These results may lend genetic support to the hypothesis that oxidative stress is associated with the pathogenesis of MSA.
DOI: 10.1002/mds.22046
PubMed: 18442140
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :002235
Links to Exploration step
pubmed:18442140Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Associations between multiple system atrophy and polymorphisms of SLC1A4, SQSTM1, and EIF4EBP1 genes.</title><author><name sortKey="Soma, Hiroyuki" sort="Soma, Hiroyuki" uniqKey="Soma H" first="Hiroyuki" last="Soma">Hiroyuki Soma</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo, Hokkaido, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo, Hokkaido</wicri:regionArea></affiliation></author><author><name sortKey="Yabe, Ichiro" sort="Yabe, Ichiro" uniqKey="Yabe I" first="Ichiro" last="Yabe">Ichiro Yabe</name></author><author><name sortKey="Takei, Asako" sort="Takei, Asako" uniqKey="Takei A" first="Asako" last="Takei">Asako Takei</name></author><author><name sortKey="Fujiki, Naoto" sort="Fujiki, Naoto" uniqKey="Fujiki N" first="Naoto" last="Fujiki">Naoto Fujiki</name></author><author><name sortKey="Yanagihara, Tetsuro" sort="Yanagihara, Tetsuro" uniqKey="Yanagihara T" first="Tetsuro" last="Yanagihara">Tetsuro Yanagihara</name></author><author><name sortKey="Sasaki, Hidenao" sort="Sasaki, Hidenao" uniqKey="Sasaki H" first="Hidenao" last="Sasaki">Hidenao Sasaki</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2008">2008</date><idno type="doi">10.1002/mds.22046</idno><idno type="RBID">pubmed:18442140</idno><idno type="pmid">18442140</idno><idno type="wicri:Area/PubMed/Corpus">002235</idno><idno type="wicri:Area/PubMed/Curation">002235</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Associations between multiple system atrophy and polymorphisms of SLC1A4, SQSTM1, and EIF4EBP1 genes.</title><author><name sortKey="Soma, Hiroyuki" sort="Soma, Hiroyuki" uniqKey="Soma H" first="Hiroyuki" last="Soma">Hiroyuki Soma</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo, Hokkaido, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo, Hokkaido</wicri:regionArea></affiliation></author><author><name sortKey="Yabe, Ichiro" sort="Yabe, Ichiro" uniqKey="Yabe I" first="Ichiro" last="Yabe">Ichiro Yabe</name></author><author><name sortKey="Takei, Asako" sort="Takei, Asako" uniqKey="Takei A" first="Asako" last="Takei">Asako Takei</name></author><author><name sortKey="Fujiki, Naoto" sort="Fujiki, Naoto" uniqKey="Fujiki N" first="Naoto" last="Fujiki">Naoto Fujiki</name></author><author><name sortKey="Yanagihara, Tetsuro" sort="Yanagihara, Tetsuro" uniqKey="Yanagihara T" first="Tetsuro" last="Yanagihara">Tetsuro Yanagihara</name></author><author><name sortKey="Sasaki, Hidenao" sort="Sasaki, Hidenao" uniqKey="Sasaki H" first="Hidenao" last="Sasaki">Hidenao Sasaki</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="2008" type="published">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adaptor Proteins, Signal Transducing (genetics)</term><term>Adult</term><term>Aged</term><term>Alleles</term><term>Excitatory Amino Acid Transporter 3 (genetics)</term><term>Female</term><term>Gene Frequency (genetics)</term><term>Genotype</term><term>Haplotypes</term><term>Humans</term><term>Linkage Disequilibrium (genetics)</term><term>Male</term><term>Middle Aged</term><term>Multiple System Atrophy (genetics)</term><term>Oxidative Stress (genetics)</term><term>Phosphoproteins (genetics)</term><term>Polymorphism, Single Nucleotide (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Adaptor Proteins, Signal Transducing</term><term>Excitatory Amino Acid Transporter 3</term><term>Phosphoproteins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Gene Frequency</term><term>Linkage Disequilibrium</term><term>Multiple System Atrophy</term><term>Oxidative Stress</term><term>Polymorphism, Single Nucleotide</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Alleles</term><term>Female</term><term>Genotype</term><term>Haplotypes</term><term>Humans</term><term>Male</term><term>Middle Aged</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Multiple system atrophy (MSA) is an adult-onset sporadic neurodegenerative disease. Although the etiology of MSA remains obscure, recent studies suggest that oxidative stress is associated with the pathogenesis of MSA. The aim of this study was to evaluate genetic associations between the candidate genes involved in oxidative stress and MSA in a case-control study. We examined 119 Japanese patients with MSA and 123 controls, and genotyped single-nucleotide polymorphisms (SNPs) of the following eight genes: CCAAT/enhancer-binding protein homologous protein, activating transcription factor 3, CCAAT/enhancer-binding protein-beta, sequestosome 1 (SQSTM1), cysteinyl-tRNA synthetase, solute carrier family 1A4 (SLC1A4), activating transcription factor 4, and eukaryotic translation initiation factor 4E-binding protein 1 (EIF4EBP1). SLC1A4 SNP +28833 (V398I, rs759458, genotype: Pc = 0.0186, allele: Pc = 0.0303, Pc: P-value with Bonferroni correction), two major haplotypes of SLC1A4 "T-C-C-G" and "T-C-T-A" (Pc = 0.0261 and 0.000768), two-SNP haplotypes of SQSTM1 "C-T" and "A-T" (Pc = 0.0136 and 0.0369), and the most common haplotype of EIF4EBP1 "C-T-G-C" (Pc = 0.0480) showed significant associations. This study revealed genetic associations of SLC1A4, SQSTM1, and EIF4EBP1 with MSA. These results may lend genetic support to the hypothesis that oxidative stress is associated with the pathogenesis of MSA.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">18442140</PMID><DateCreated><Year>2008</Year><Month>07</Month><Day>10</Day></DateCreated><DateCompleted><Year>2008</Year><Month>10</Month><Day>20</Day></DateCompleted><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>23</Volume><Issue>8</Issue><PubDate><Year>2008</Year><Month>Jun</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Associations between multiple system atrophy and polymorphisms of SLC1A4, SQSTM1, and EIF4EBP1 genes.</ArticleTitle><Pagination><MedlinePgn>1161-7</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.22046</ELocationID><Abstract><AbstractText>Multiple system atrophy (MSA) is an adult-onset sporadic neurodegenerative disease. Although the etiology of MSA remains obscure, recent studies suggest that oxidative stress is associated with the pathogenesis of MSA. The aim of this study was to evaluate genetic associations between the candidate genes involved in oxidative stress and MSA in a case-control study. We examined 119 Japanese patients with MSA and 123 controls, and genotyped single-nucleotide polymorphisms (SNPs) of the following eight genes: CCAAT/enhancer-binding protein homologous protein, activating transcription factor 3, CCAAT/enhancer-binding protein-beta, sequestosome 1 (SQSTM1), cysteinyl-tRNA synthetase, solute carrier family 1A4 (SLC1A4), activating transcription factor 4, and eukaryotic translation initiation factor 4E-binding protein 1 (EIF4EBP1). SLC1A4 SNP +28833 (V398I, rs759458, genotype: Pc = 0.0186, allele: Pc = 0.0303, Pc: P-value with Bonferroni correction), two major haplotypes of SLC1A4 "T-C-C-G" and "T-C-T-A" (Pc = 0.0261 and 0.000768), two-SNP haplotypes of SQSTM1 "C-T" and "A-T" (Pc = 0.0136 and 0.0369), and the most common haplotype of EIF4EBP1 "C-T-G-C" (Pc = 0.0480) showed significant associations. This study revealed genetic associations of SLC1A4, SQSTM1, and EIF4EBP1 with MSA. These results may lend genetic support to the hypothesis that oxidative stress is associated with the pathogenesis of MSA.</AbstractText><CopyrightInformation>(c) 2008 Movement Disorder Society</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Soma</LastName><ForeName>Hiroyuki</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo, Hokkaido, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Yabe</LastName><ForeName>Ichiro</ForeName><Initials>I</Initials></Author><Author ValidYN="Y"><LastName>Takei</LastName><ForeName>Asako</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Fujiki</LastName><ForeName>Naoto</ForeName><Initials>N</Initials></Author><Author ValidYN="Y"><LastName>Yanagihara</LastName><ForeName>Tetsuro</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Sasaki</LastName><ForeName>Hidenao</ForeName><Initials>H</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D048868">Adaptor Proteins, Signal Transducing</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C087000">EIF4EBP1 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D050580">Excitatory Amino Acid Transporter 3</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D010750">Phosphoproteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C493400">SLC1A1 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C099718">SQSTM1 protein, human</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D048868">Adaptor Proteins, Signal Transducing</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000483">Alleles</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D050580">Excitatory Amino Acid Transporter 3</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005787">Gene Frequency</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005838">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006239">Haplotypes</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D015810">Linkage Disequilibrium</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D019578">Multiple System Atrophy</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018384">Oxidative Stress</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010750">Phosphoproteins</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020641">Polymorphism, Single Nucleotide</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2008</Year><Month>4</Month><Day>30</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2008</Year><Month>10</Month><Day>22</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2008</Year><Month>4</Month><Day>30</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.22046</ArticleId><ArticleId IdType="pubmed">18442140</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PubMed/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002235 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PubMed/Curation/biblio.hfd -nk 002235 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= PubMed
|étape= Curation
|type= RBID
|clé= pubmed:18442140
|texte= Associations between multiple system atrophy and polymorphisms of SLC1A4, SQSTM1, and EIF4EBP1 genes.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Curation/RBID.i -Sk "pubmed:18442140" \
| HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Curation/biblio.hfd \
| NlmPubMed2Wicri -a MovDisordV3
| This area was generated with Dilib version V0.6.23. |  |