Associations Between Multiple System Atrophy and Polymorphisms of SLC1A4, SQSTM1, and EIF4EBP1 Genes
Identifieur interne : 001355 ( PascalFrancis/Checkpoint ); précédent : 001354; suivant : 001356Associations Between Multiple System Atrophy and Polymorphisms of SLC1A4, SQSTM1, and EIF4EBP1 Genes
Auteurs : Hiroyuki Soma [Japon] ; Ichiro Yabe [Japon] ; Asako Takei [Japon] ; Naoto Fujiki [Japon] ; Tetsuro Yanagihara [Japon] ; Hidenao Sasaki [Japon]Source :
- Movement disorders [ 0885-3185 ] ; 2008.
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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-, 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.
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aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Sapporo, Hokkaido</wicri:noRegion></affiliation></author><author><name sortKey="Takei, Asako" sort="Takei, Asako" uniqKey="Takei A" first="Asako" last="Takei">Asako Takei</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Hokuyukai Neurology Hospital</s1><s2>Sapporo, Hokkaido</s2><s3>JPN</s3><sZ>3 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Hokuyukai Neurology Hospital</wicri:noRegion></affiliation></author><author><name sortKey="Fujiki, Naoto" sort="Fujiki, Naoto" uniqKey="Fujiki N" first="Naoto" last="Fujiki">Naoto Fujiki</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology, Sapporo Minami National Hospital</s1><s2>Sapporo, Hokkaido</s2><s3>JPN</s3><sZ>4 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Sapporo, Hokkaido</wicri:noRegion></affiliation></author><author><name sortKey="Yanagihara, Tetsuro" sort="Yanagihara, Tetsuro" uniqKey="Yanagihara T" 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Neurology, Hokkaido University Graduate School of Medicine</s1><s2>Sapporo, Hokkaido</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Sapporo, Hokkaido</wicri:noRegion></affiliation></author><author><name sortKey="Takei, Asako" sort="Takei, Asako" uniqKey="Takei A" first="Asako" last="Takei">Asako Takei</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Hokuyukai Neurology Hospital</s1><s2>Sapporo, Hokkaido</s2><s3>JPN</s3><sZ>3 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Hokuyukai Neurology Hospital</wicri:noRegion></affiliation></author><author><name sortKey="Fujiki, Naoto" sort="Fujiki, Naoto" uniqKey="Fujiki N" first="Naoto" last="Fujiki">Naoto Fujiki</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology, Sapporo Minami National Hospital</s1><s2>Sapporo, Hokkaido</s2><s3>JPN</s3><sZ>4 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Sapporo, 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type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2008">2008</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Binding protein</term><term>Carrier</term><term>Initiation factor</term><term>Multiple system atrophy</term><term>Nervous system diseases</term><term>Oxidative stress</term><term>Single nucleotide polymorphism</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Atrophie multisystématisée</term><term>Pathologie du système nerveux</term><term>Polymorphisme mononucléotide</term><term>Stress oxydatif</term><term>Porteur</term><term>Facteur initiation</term><term>Protéine liaison</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-, 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><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0></fA01><fA03 i2="1"><s0>Mov. disord.</s0></fA03><fA05><s2>23</s2></fA05><fA06><s2>8</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Associations Between Multiple System Atrophy and Polymorphisms of SLC1A4, SQSTM1, and EIF4EBP1 Genes</s1></fA08><fA11 i1="01" i2="1"><s1>SOMA (Hiroyuki)</s1></fA11><fA11 i1="02" i2="1"><s1>YABE (Ichiro)</s1></fA11><fA11 i1="03" i2="1"><s1>TAKEI (Asako)</s1></fA11><fA11 i1="04" i2="1"><s1>FUJIKI (Naoto)</s1></fA11><fA11 i1="05" i2="1"><s1>YANAGIHARA (Tetsuro)</s1></fA11><fA11 i1="06" i2="1"><s1>SASAKI (Hidenao)</s1></fA11><fA14 i1="01"><s1>Department of Neurology, Hokkaido University Graduate School of Medicine</s1><s2>Sapporo, Hokkaido</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>6 aut.</sZ></fA14><fA14 i1="02"><s1>Hokuyukai Neurology Hospital</s1><s2>Sapporo, Hokkaido</s2><s3>JPN</s3><sZ>3 aut.</sZ></fA14><fA14 i1="03"><s1>Department of Neurology, Sapporo Minami National Hospital</s1><s2>Sapporo, Hokkaido</s2><s3>JPN</s3><sZ>4 aut.</sZ></fA14><fA14 i1="04"><s1>Ebetsu Neurology Clinic</s1><s2>Ebetsu, Hokkaido</s2><s3>JPN</s3><sZ>5 aut.</sZ></fA14><fA20><s1>1161-1167</s1></fA20><fA21><s1>2008</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>20953</s2><s5>354000196042800130</s5></fA43><fA44><s0>0000</s0><s1>© 2008 INIST-CNRS. 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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-, 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. 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