Identification of a risk haplotype of the α‐synuclein gene in Japanese with sporadic Parkinson's disease
Identifieur interne : 000516 ( Main/Corpus ); précédent : 000515; suivant : 000517Identification of a risk haplotype of the α‐synuclein gene in Japanese with sporadic Parkinson's disease
Auteurs : Hideaki Kobayashi ; Hiroshi Ujike ; Junko Hasegawa ; Mitsutoshi Yamamoto ; Akihiro Kanzaki ; Ichiro SoraSource :
- Movement Disorders [ 0885-3185 ] ; 2006-12.
English descriptors
Abstract
α‐Synuclein is one of the main components of Lewy bodies, a pathological marker of Parkinson's disease (PD). Certain missense mutations of the α‐synuclein gene cause familial PD, but the role of the gene in sporadic PD is still controversial. We scrutinized polymorphisms of the α‐synuclein gene in a Japanese population and investigated their associations with sporadic cases of PD. The 5′ flanking region to intron 2 of the α‐synuclein gene (3.8 kb) and two polymorphisms in intron 4 previously reported in Caucasian sporadic cases of PD were analyzed in 185 sporadic PD and 191 controls. Five novel single nucleotide polymorphisms (SNPs), 16 reported SNPs, and one reported polynucleotide polymorphism (PNP) were found. Most of the polymorphisms examined were in linkage disequilibrium. Significant associations with PD were found in 15 of 21 SNPs, especially in intron 1 (IVS1+155 TmAn PNP and the IVS1+719 C>T SNP, P < 0.0001). Haplotype analysis showed that T10A7‐A‐A and T11A6‐G‐G haplotypes at three loci (IVS1+155 – IVS1+273 – IVS1+608) were strongly negative and positive risk factors of sporadic PD, respectively (odds ratios were 0.23 [95% confidence interval, 0.16–0.32] and 1.51 [95% confidence interval, 1.29–1.75]). In conclusion, our findings indicate that genetic variations of the α‐synuclein gene affect the development of sporadic PD. © 2006 Movement Disorder Society
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DOI: 10.1002/mds.21142
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Certain missense mutations of the α‐synuclein gene cause familial PD, but the role of the gene in sporadic PD is still controversial. We scrutinized polymorphisms of the α‐synuclein gene in a Japanese population and investigated their associations with sporadic cases of PD. The 5′ flanking region to intron 2 of the α‐synuclein gene (3.8 kb) and two polymorphisms in intron 4 previously reported in Caucasian sporadic cases of PD were analyzed in 185 sporadic PD and 191 controls. Five novel single nucleotide polymorphisms (SNPs), 16 reported SNPs, and one reported polynucleotide polymorphism (PNP) were found. Most of the polymorphisms examined were in linkage disequilibrium. Significant associations with PD were found in 15 of 21 SNPs, especially in intron 1 (IVS1+155 TmAn PNP and the IVS1+719 C>T SNP, P < 0.0001). Haplotype analysis showed that T10A7‐A‐A and T11A6‐G‐G haplotypes at three loci (IVS1+155 – IVS1+273 – IVS1+608) were strongly negative and positive risk factors of sporadic PD, respectively (odds ratios were 0.23 [95% confidence interval, 0.16–0.32] and 1.51 [95% confidence interval, 1.29–1.75]). In conclusion, our findings indicate that genetic variations of the α‐synuclein gene affect the development of sporadic PD. © 2006 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Hideaki Kobayashi PhD</name><affiliations><json:string>Department of Psychobiology, Tohoku University Graduate School of Medicine, Sendai, Japan</json:string></affiliations></json:item><json:item><name>Hiroshi Ujike MD, PhD</name><affiliations><json:string>Department of Neuropsychiatry, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan</json:string></affiliations></json:item><json:item><name>Junko Hasegawa BS</name><affiliations><json:string>Department of Molecular Psychiatry, Tokyo Institute of Psychiatry, Tokyo Metropolitan Organization for Medical Research, Tokyo, Japan</json:string></affiliations></json:item><json:item><name>Mitsutoshi Yamamoto MD, PhD</name><affiliations><json:string>Department of Neurology, Kagawa Central Hospital, Kagawa, Japan</json:string></affiliations></json:item><json:item><name>Akihiro Kanzaki MD, PhD</name><affiliations><json:string>Department of Neurology, Hiroshima City Hospital, Hiroshima, Japan</json:string></affiliations></json:item><json:item><name>Ichiro Sora MD, PhD</name><affiliations><json:string>Department of Psychobiology, Tohoku University Graduate School of Medicine, Sendai, Japan</json:string><json:string>Department of Molecular Psychiatry, Tokyo Institute of Psychiatry, Tokyo Metropolitan Organization for Medical Research, Tokyo, Japan</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Parkinson's disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>synuclein</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>genetics</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>association, Japanese</value></json:item></subject><articleId><json:string>MDS21142</json:string></articleId><language><json:string>eng</json:string></language><abstract>α‐Synuclein is one of the main components of Lewy bodies, a pathological marker of Parkinson's disease (PD). Certain missense mutations of the α‐synuclein gene cause familial PD, but the role of the gene in sporadic PD is still controversial. We scrutinized polymorphisms of the α‐synuclein gene in a Japanese population and investigated their associations with sporadic cases of PD. The 5′ flanking region to intron 2 of the α‐synuclein gene (3.8 kb) and two polymorphisms in intron 4 previously reported in Caucasian sporadic cases of PD were analyzed in 185 sporadic PD and 191 controls. Five novel single nucleotide polymorphisms (SNPs), 16 reported SNPs, and one reported polynucleotide polymorphism (PNP) were found. Most of the polymorphisms examined were in linkage disequilibrium. Significant associations with PD were found in 15 of 21 SNPs, especially in intron 1 (IVS1+155 TmAn PNP and the IVS1+719 C>T SNP, P > 0.0001). Haplotype analysis showed that T10A7‐A‐A and T11A6‐G‐G haplotypes at three loci (IVS1+155 – IVS1+273 – IVS1+608) were strongly negative and positive risk factors of sporadic PD, respectively (odds ratios were 0.23 [95% confidence interval, 0.16–0.32] and 1.51 [95% confidence interval, 1.29–1.75]). 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Certain missense mutations of the α‐synuclein gene cause familial PD, but the role of the gene in sporadic PD is still controversial. We scrutinized polymorphisms of the α‐synuclein gene in a Japanese population and investigated their associations with sporadic cases of PD. The 5′ flanking region to intron 2 of the α‐synuclein gene (3.8 kb) and two polymorphisms in intron 4 previously reported in Caucasian sporadic cases of PD were analyzed in 185 sporadic PD and 191 controls. Five novel single nucleotide polymorphisms (SNPs), 16 reported SNPs, and one reported polynucleotide polymorphism (PNP) were found. Most of the polymorphisms examined were in linkage disequilibrium. Significant associations with PD were found in 15 of 21 SNPs, especially in intron 1 (IVS1+155 TmAn PNP and the IVS1+719 C>T SNP, P < 0.0001). Haplotype analysis showed that T10A7‐A‐A and T11A6‐G‐G haplotypes at three loci (IVS1+155 – IVS1+273 – IVS1+608) were strongly negative and positive risk factors of sporadic PD, respectively (odds ratios were 0.23 [95% confidence interval, 0.16–0.32] and 1.51 [95% confidence interval, 1.29–1.75]). 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type="author"><keyword xml:id="kwd1">Parkinson's disease</keyword><keyword xml:id="kwd2">synuclein</keyword><keyword xml:id="kwd3">genetics</keyword><keyword xml:id="kwd4">association, Japanese</keyword></keywordGroup><fundingInfo><fundingAgency>Japanese Ministry of Health, Labor and Welfare, and Ministry of Education, Culture, Sports, Science, and Technology</fundingAgency></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>α‐Synuclein is one of the main components of Lewy bodies, a pathological marker of Parkinson's disease (PD). Certain missense mutations of the α‐synuclein gene cause familial PD, but the role of the gene in sporadic PD is still controversial. We scrutinized polymorphisms of the α‐synuclein gene in a Japanese population and investigated their associations with sporadic cases of PD. The 5′ flanking region to intron 2 of the α‐synuclein gene (3.8 kb) and two polymorphisms in intron 4 previously reported in Caucasian sporadic cases of PD were analyzed in 185 sporadic PD and 191 controls. Five novel single nucleotide polymorphisms (SNPs), 16 reported SNPs, and one reported polynucleotide polymorphism (PNP) were found. Most of the polymorphisms examined were in linkage disequilibrium. Significant associations with PD were found in 15 of 21 SNPs, especially in intron 1 (IVS1+155 TmAn PNP and the IVS1+719 C>T SNP, <i>P</i> < 0.0001). Haplotype analysis showed that T10A7‐A‐A and T11A6‐G‐G haplotypes at three loci (IVS1+155 – IVS1+273 – IVS1+608) were strongly negative and positive risk factors of sporadic PD, respectively (odds ratios were 0.23 [95% confidence interval, 0.16–0.32] and 1.51 [95% confidence interval, 1.29–1.75]). In conclusion, our findings indicate that genetic variations of the α‐synuclein gene affect the development of sporadic PD. © 2006 Movement Disorder Society</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Identification of a risk haplotype of the α‐synuclein gene in Japanese with sporadic Parkinson's disease</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>PD Risk Haplotype Of α‐Synuclein Gene</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Identification of a risk haplotype of the α‐synuclein gene in Japanese with sporadic Parkinson's disease</title></titleInfo><name type="personal"><namePart type="given">Hideaki</namePart><namePart type="family">Kobayashi</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Psychobiology, Tohoku University Graduate School of Medicine, Sendai, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Hiroshi</namePart><namePart type="family">Ujike</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neuropsychiatry, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Junko</namePart><namePart type="family">Hasegawa</namePart><namePart type="termsOfAddress">BS</namePart><affiliation>Department of Molecular Psychiatry, Tokyo Institute of Psychiatry, Tokyo Metropolitan Organization for Medical Research, Tokyo, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Mitsutoshi</namePart><namePart type="family">Yamamoto</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, Kagawa Central Hospital, Kagawa, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Akihiro</namePart><namePart type="family">Kanzaki</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, Hiroshima City Hospital, Hiroshima, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ichiro</namePart><namePart type="family">Sora</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Psychobiology, Tohoku University Graduate School of Medicine, Sendai, Japan</affiliation><affiliation>Department of Molecular Psychiatry, Tokyo Institute of Psychiatry, Tokyo Metropolitan Organization for Medical Research, Tokyo, Japan</affiliation><description>Correspondence: Department of Psychobiology, Tohoku University Graduate School of Medicine, 1‐1 Seiryo‐machi, Aoba‐ku, Sendai, 980‐8574, Japan</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2006-12</dateIssued><dateCaptured encoding="w3cdtf">2005-09-30</dateCaptured><dateValid encoding="w3cdtf">2006-06-30</dateValid><copyrightDate encoding="w3cdtf">2006</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">3</extent><extent unit="tables">6</extent><extent unit="references">51</extent><extent unit="words">5079</extent></physicalDescription><abstract lang="en">α‐Synuclein is one of the main components of Lewy bodies, a pathological marker of Parkinson's disease (PD). Certain missense mutations of the α‐synuclein gene cause familial PD, but the role of the gene in sporadic PD is still controversial. We scrutinized polymorphisms of the α‐synuclein gene in a Japanese population and investigated their associations with sporadic cases of PD. The 5′ flanking region to intron 2 of the α‐synuclein gene (3.8 kb) and two polymorphisms in intron 4 previously reported in Caucasian sporadic cases of PD were analyzed in 185 sporadic PD and 191 controls. Five novel single nucleotide polymorphisms (SNPs), 16 reported SNPs, and one reported polynucleotide polymorphism (PNP) were found. Most of the polymorphisms examined were in linkage disequilibrium. Significant associations with PD were found in 15 of 21 SNPs, especially in intron 1 (IVS1+155 TmAn PNP and the IVS1+719 C>T SNP, P < 0.0001). Haplotype analysis showed that T10A7‐A‐A and T11A6‐G‐G haplotypes at three loci (IVS1+155 – IVS1+273 – IVS1+608) were strongly negative and positive risk factors of sporadic PD, respectively (odds ratios were 0.23 [95% confidence interval, 0.16–0.32] and 1.51 [95% confidence interval, 1.29–1.75]). In conclusion, our findings indicate that genetic variations of the α‐synuclein gene affect the development of sporadic PD. © 2006 Movement Disorder Society</abstract><note type="funding">Japanese Ministry of Health, Labor and Welfare, and Ministry of Education, Culture, Sports, Science, and Technology</note><subject lang="en"><genre>Keywords</genre><topic>Parkinson's disease</topic><topic>synuclein</topic><topic>genetics</topic><topic>association, Japanese</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title><subTitle>Official Journal of the Movement Disorder Society</subTitle></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><genre type="Journal">journal</genre><subject><genre>article category</genre><topic>Research Article</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>2006</date><detail type="volume"><caption>vol.</caption><number>21</number></detail><detail type="issue"><caption>no.</caption><number>12</number></detail><extent unit="pages"><start>2157</start><end>2164</end><total>8</total></extent></part></relatedItem><identifier type="istex">9D235AFE20B4A90186163501442BF123CC4D5682</identifier><identifier type="DOI">10.1002/mds.21142</identifier><identifier type="ArticleID">MDS21142</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2006 Movement Disorder Society</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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