Variants in estrogen‐related genes and risk of Parkinson's disease
Identifieur interne : 000679 ( Main/Corpus ); précédent : 000678; suivant : 000680Variants in estrogen‐related genes and risk of Parkinson's disease
Auteurs : Sun Ju Chung ; Sebastian M. Armasu ; Joanna M. Biernacka ; Timothy G. Lesnick ; David N. Rider ; Julie M. Cunningham ; Demetrius M. MaraganoreSource :
- Movement Disorders [ 0885-3185 ] ; 2011-06.
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Abstract
Incidence rates of Parkinson's disease are higher in men than in women at all ages, and these differences may be a result of the neuroprotective effects of estrogen on the nigrostriatal pathway. We investigated the association of common variants in 4 estrogen‐related genes with Parkinson's disease. Tagging single‐nucleotide polymorphisms in the CYP19A1, ESR1, ESR2, and PRDM2 genes were selected from the International Haplotype Map and genotyped in 1103 Parkinson's disease cases from the upper Midwest of the United States and in 1103 individually matched controls (654 unaffected siblings, and 449 unrelated controls from the same region). Of 137 informative single‐nucleotide polymorphisms, 2 PRDM2 single‐nucleotide polymorphisms were significantly associated with an increased risk of Parkinson's disease at the Bonferroni‐corrected significance level of 0.0004 (rs2744690: OR, 1.54; SE(logOR), .109; 99.96% CI, 1.05–2.26; uncorrected P = .0001; rs2744687: OR, 1.53; SE(logOR), .113; 99.96% CI, 1.03–2.29, uncorrected P = .0002); the association was significant in the women‐only stratum but not in the men‐only stratum. An additional 6 single‐nucleotide polymorphisms in PRDM2, 2 in ESR1, 1 in ESR2, and 1 in CYP19A1 had significant P values in the overall sample before Bonferroni correction. None of the single‐nucleotide polymorphisms were significantly associated with age at onset of Parkinson's disease after Bonferroni correction. Our results confirm the association of PRDM2 variants with Parkinson's disease susceptibility, especially in women. © 2011 Movement Disorder Society
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DOI: 10.1002/mds.23604
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Maraganore</name><affiliation><mods:affiliation>Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, NorthShore University HealthSystem, Evanston, Illinois, USA</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2011-06">2011-06</date><biblScope unit="volume">26</biblScope><biblScope unit="issue">7</biblScope><biblScope unit="page" from="1234">1234</biblScope><biblScope unit="page" to="1242">1242</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">EEDDCEA379F45FE9645D61285DAAD9634CD2C000</idno><idno type="DOI">10.1002/mds.23604</idno><idno type="ArticleID">MDS23604</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>PRDM2</term><term>Parkinson's disease</term><term>common genetic variation</term><term>estrogen</term><term>genes</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Incidence rates of Parkinson's disease are higher in men than in women at all ages, and these differences may be a result of the neuroprotective effects of estrogen on the nigrostriatal pathway. We investigated the association of common variants in 4 estrogen‐related genes with Parkinson's disease. Tagging single‐nucleotide polymorphisms in the CYP19A1, ESR1, ESR2, and PRDM2 genes were selected from the International Haplotype Map and genotyped in 1103 Parkinson's disease cases from the upper Midwest of the United States and in 1103 individually matched controls (654 unaffected siblings, and 449 unrelated controls from the same region). Of 137 informative single‐nucleotide polymorphisms, 2 PRDM2 single‐nucleotide polymorphisms were significantly associated with an increased risk of Parkinson's disease at the Bonferroni‐corrected significance level of 0.0004 (rs2744690: OR, 1.54; SE(logOR), .109; 99.96% CI, 1.05–2.26; uncorrected P = .0001; rs2744687: OR, 1.53; SE(logOR), .113; 99.96% CI, 1.03–2.29, uncorrected P = .0002); the association was significant in the women‐only stratum but not in the men‐only stratum. An additional 6 single‐nucleotide polymorphisms in PRDM2, 2 in ESR1, 1 in ESR2, and 1 in CYP19A1 had significant P values in the overall sample before Bonferroni correction. None of the single‐nucleotide polymorphisms were significantly associated with age at onset of Parkinson's disease after Bonferroni correction. Our results confirm the association of PRDM2 variants with Parkinson's disease susceptibility, especially in women. © 2011 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Sun Ju Chung MD, PhD</name><affiliations><json:string>Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA</json:string><json:string>Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea</json:string></affiliations></json:item><json:item><name>Sebastian M. Armasu MS</name><affiliations><json:string>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA</json:string></affiliations></json:item><json:item><name>Joanna M. Biernacka PhD</name><affiliations><json:string>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA</json:string></affiliations></json:item><json:item><name>Timothy G. Lesnick MS</name><affiliations><json:string>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA</json:string></affiliations></json:item><json:item><name>David N. Rider MSE</name><affiliations><json:string>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA</json:string></affiliations></json:item><json:item><name>Julie M. Cunningham PhD</name><affiliations><json:string>Department of Laboratory Medicine, Mayo Clinic, Rochester, Minnesota, USA</json:string></affiliations></json:item><json:item><name>Demetrius M. Maraganore MD</name><affiliations><json:string>Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA</json:string><json:string>Department of Neurology, NorthShore University HealthSystem, Evanston, Illinois, USA</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>estrogen</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>genes</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>common genetic variation</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>PRDM2</value></json:item></subject><articleId><json:string>MDS23604</json:string></articleId><language><json:string>eng</json:string></language><abstract>Incidence rates of Parkinson's disease are higher in men than in women at all ages, and these differences may be a result of the neuroprotective effects of estrogen on the nigrostriatal pathway. We investigated the association of common variants in 4 estrogen‐related genes with Parkinson's disease. Tagging single‐nucleotide polymorphisms in the CYP19A1, ESR1, ESR2, and PRDM2 genes were selected from the International Haplotype Map and genotyped in 1103 Parkinson's disease cases from the upper Midwest of the United States and in 1103 individually matched controls (654 unaffected siblings, and 449 unrelated controls from the same region). Of 137 informative single‐nucleotide polymorphisms, 2 PRDM2 single‐nucleotide polymorphisms were significantly associated with an increased risk of Parkinson's disease at the Bonferroni‐corrected significance level of 0.0004 (rs2744690: OR, 1.54; SE(logOR), .109; 99.96% CI, 1.05–2.26; uncorrected P = .0001; rs2744687: OR, 1.53; SE(logOR), .113; 99.96% CI, 1.03–2.29, uncorrected P = .0002); the association was significant in the women‐only stratum but not in the men‐only stratum. An additional 6 single‐nucleotide polymorphisms in PRDM2, 2 in ESR1, 1 in ESR2, and 1 in CYP19A1 had significant P values in the overall sample before Bonferroni correction. None of the single‐nucleotide polymorphisms were significantly associated with age at onset of Parkinson's disease after Bonferroni correction. Our results confirm the association of PRDM2 variants with Parkinson's disease susceptibility, especially in women. © 2011 Movement Disorder Society</abstract><qualityIndicators><score>7.712</score><pdfVersion>1.3</pdfVersion><pdfPageSize>612 x 810 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>5</keywordCount><abstractCharCount>1595</abstractCharCount><pdfWordCount>5173</pdfWordCount><pdfCharCount>35594</pdfCharCount><pdfPageCount>9</pdfPageCount><abstractWordCount>226</abstractWordCount></qualityIndicators><title>Variants in estrogen‐related genes and risk of Parkinson's disease</title><genre><json:string>article</json:string></genre><host><volume>26</volume><publisherId><json:string>MDS</json:string></publisherId><pages><total>9</total><last>1242</last><first>1234</first></pages><issn><json:string>0885-3185</json:string></issn><issue>7</issue><subject><json:item><value>Research Article</value></json:item></subject><genre><json:string>Journal</json:string></genre><language><json:string>unknown</json:string></language><eissn><json:string>1531-8257</json:string></eissn><title>Movement Disorders</title><doi><json:string>10.1002/(ISSN)1531-8257</json:string></doi></host><publicationDate>2011</publicationDate><copyrightDate>2011</copyrightDate><doi><json:string>10.1002/mds.23604</json:string></doi><id>EEDDCEA379F45FE9645D61285DAAD9634CD2C000</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/EEDDCEA379F45FE9645D61285DAAD9634CD2C000/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/EEDDCEA379F45FE9645D61285DAAD9634CD2C000/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/EEDDCEA379F45FE9645D61285DAAD9634CD2C000/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Variants in estrogen‐related genes and risk of Parkinson's disease</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>WILEY</p></availability><date>2011</date></publicationStmt><notesStmt><note type="content">*Relevant conflicts of interest/financial disclosures: The major aspects of the research program were funded by the National Institutes of Health (7 R01 ES010751‐10). Sun Ju Chung has been employed as Assistant Professor, Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea and has received funding for travel from Glaxo‐SmithKline Korea. Sebastian M. Armasu has been employed as a Statistician I, Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic (Rochester, MN) and has received funding from the National Institutes of Health (7 R01 ES010751‐10 [coinvestigator], 1 P50 CA136393‐01A1 [coinvestigator], 5 U01 HG004735‐02 [coinvestigator]). Joanna M. Biernacka has been employed as Assistant Professor of Biostatistics and Psychiatry, Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic (Rochester, MN) and has received funding from the National Institutes of Health (1 P20 AA017830‐01 [coinvestigator], 7 R01 ES010751‐10 [coinvestigator], 1 R03 AA019570‐01 [primary investigator], 1 R01 MH079261‐01A2 [coinvestigator]). Timothy G. Lesnick has been employed as a Statistician III, Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic (Rochester, MN), may accrue revenue from pending patent applications related to the prediction of Parkinson disease, and receives research support from the National Institutes of Health (7 R01 ES010751‐10 [coinvestigator]). David N. Rider has been employed as a Senior Analyst/Programmer, Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic (Rochester, MN) and has no disclosures to report. Julie M. Cunningham has been employed as an Assistant Professor of Laboratory Medicine and Pathology, Mayo Genomics Research Center, Mayo Clinic (Rochester, MN) and has no disclosures to report. Demetrius M. Maraganore is the Ruth Cain Ruggles Chairman of the Department of Neurology, and Medical Director of the Neurological Institute, NorthShore University HealthSystem (Evanston, IL). He may accrue revenue from pending patent applications related to the prediction of Parkinson disease and the treatment of neurodegenerative disease, has received license fee payments and royalty payments from Alnylam Pharmaceuticals (method to treat Parkinson's disease), and receives research support from the National Institutes of Health (7 R01 ES010751‐10 [primary investigator]). Full financial disclosures and author roles can be found in the online version of this article.</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Variants in estrogen‐related genes and risk of Parkinson's disease</title><author><persName><forename type="first">Sun Ju</forename><surname>Chung</surname></persName><roleName type="degree">MD, PhD</roleName><affiliation>Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA</affiliation><affiliation>Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea</affiliation></author><author><persName><forename type="first">Sebastian M.</forename><surname>Armasu</surname></persName><roleName type="degree">MS</roleName><affiliation>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA</affiliation></author><author><persName><forename type="first">Joanna M.</forename><surname>Biernacka</surname></persName><roleName type="degree">PhD</roleName><affiliation>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA</affiliation></author><author><persName><forename type="first">Timothy G.</forename><surname>Lesnick</surname></persName><roleName type="degree">MS</roleName><affiliation>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA</affiliation></author><author><persName><forename type="first">David N.</forename><surname>Rider</surname></persName><roleName type="degree">MSE</roleName><affiliation>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA</affiliation></author><author><persName><forename type="first">Julie M.</forename><surname>Cunningham</surname></persName><roleName type="degree">PhD</roleName><affiliation>Department of Laboratory Medicine, Mayo Clinic, Rochester, Minnesota, USA</affiliation></author><author><persName><forename type="first">Demetrius M.</forename><surname>Maraganore</surname></persName><roleName type="degree">MD</roleName><note type="correspondence"><p>Correspondence: Ruth Cain Ruggles Chairman, Department of Neurology, NorthShore University HealthSystem, 2650 Ridge Avenue, Evanston, IL 60201, USA</p></note><affiliation>Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA</affiliation><affiliation>Department of Neurology, NorthShore University HealthSystem, Evanston, Illinois, USA</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. 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We investigated the association of common variants in 4 estrogen‐related genes with Parkinson's disease. Tagging single‐nucleotide polymorphisms in the CYP19A1, ESR1, ESR2, and PRDM2 genes were selected from the International Haplotype Map and genotyped in 1103 Parkinson's disease cases from the upper Midwest of the United States and in 1103 individually matched controls (654 unaffected siblings, and 449 unrelated controls from the same region). Of 137 informative single‐nucleotide polymorphisms, 2 PRDM2 single‐nucleotide polymorphisms were significantly associated with an increased risk of Parkinson's disease at the Bonferroni‐corrected significance level of 0.0004 (rs2744690: OR, 1.54; SE(logOR), .109; 99.96% CI, 1.05–2.26; uncorrected P = .0001; rs2744687: OR, 1.53; SE(logOR), .113; 99.96% CI, 1.03–2.29, uncorrected P = .0002); the association was significant in the women‐only stratum but not in the men‐only stratum. An additional 6 single‐nucleotide polymorphisms in PRDM2, 2 in ESR1, 1 in ESR2, and 1 in CYP19A1 had significant P values in the overall sample before Bonferroni correction. None of the single‐nucleotide polymorphisms were significantly associated with age at onset of Parkinson's disease after Bonferroni correction. Our results confirm the association of PRDM2 variants with Parkinson's disease susceptibility, especially in women. © 2011 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>Parkinson's disease</term></item><item><term>estrogen</term></item><item><term>genes</term></item><item><term>common genetic variation</term></item><item><term>PRDM2</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>article category</head><item><term>Research Article</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2010-03-08">Received</change><change when="2010-11-29">Registration</change><change when="2011-06">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/EEDDCEA379F45FE9645D61285DAAD9634CD2C000/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1531-8257</doi><issn type="print">0885-3185</issn><issn type="electronic">1531-8257</issn><idGroup><id type="product" value="MDS"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="MOVEMENT DISORDERS">Movement Disorders</title><title type="short">Mov. 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href="file:MDS.MDS23604.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="1"></count><count type="tableTotal" number="3"></count><count type="referenceTotal" number="46"></count><count type="wordTotal" number="8583"></count></countGroup><titleGroup><title type="main" xml:lang="en">Variants in estrogen‐related genes and risk of Parkinson's disease<link href="#fn15"></link></title><title type="short" xml:lang="en">Estrogen‐Related Gene Variants and Risk of PD</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>Sun Ju</givenNames><familyName>Chung</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Sebastian M.</givenNames><familyName>Armasu</familyName><degrees>MS</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Joanna M.</givenNames><familyName>Biernacka</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Timothy G.</givenNames><familyName>Lesnick</familyName><degrees>MS</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af3"><personName><givenNames>David N.</givenNames><familyName>Rider</familyName><degrees>MSE</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Julie M.</givenNames><familyName>Cunningham</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af1 #af5" corresponding="yes"><personName><givenNames>Demetrius M.</givenNames><familyName>Maraganore</familyName><degrees>MD</degrees></personName><contactDetails><email>dmaraganore@northshore.org</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="KP" type="organization"><unparsedAffiliation>Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="US" type="organization"><unparsedAffiliation>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="US" type="organization"><unparsedAffiliation>Department of Laboratory Medicine, Mayo Clinic, Rochester, Minnesota, USA</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, NorthShore University HealthSystem, Evanston, Illinois, USA</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">Parkinson's disease</keyword><keyword xml:id="kwd2">estrogen</keyword><keyword xml:id="kwd3">genes</keyword><keyword xml:id="kwd4">common genetic variation</keyword><keyword xml:id="kwd5">PRDM2</keyword></keywordGroup><supportingInformation><p> Additional Supporting Information may be found in the online version of this article. </p><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds23604:MDS_23604_sm_suppfig1A"></mediaResource><caption>Supporting Figure 1A</caption></supportingInfoItem><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds23604:MDS_23604_sm_suppfig1B"></mediaResource><caption>Supporting Figure 1B</caption></supportingInfoItem><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds23604:MDS_23604_sm_suppfig1C"></mediaResource><caption>Supporting Figure 1C</caption></supportingInfoItem><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds23604:MDS_23604_sm_suppfig1D"></mediaResource><caption>Supporting Figure 1D</caption></supportingInfoItem><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds23604:MDS_23604_sm_supptable1"></mediaResource><caption>Supporting Table 1</caption></supportingInfoItem></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Incidence rates of Parkinson's disease are higher in men than in women at all ages, and these differences may be a result of the neuroprotective effects of estrogen on the nigrostriatal pathway. We investigated the association of common variants in 4 estrogen‐related genes with Parkinson's disease. Tagging single‐nucleotide polymorphisms in the <i>CYP19A1</i>, <i>ESR1</i>, <i>ESR2</i>, and <i>PRDM2</i> genes were selected from the International Haplotype Map and genotyped in 1103 Parkinson's disease cases from the upper Midwest of the United States and in 1103 individually matched controls (654 unaffected siblings, and 449 unrelated controls from the same region). Of 137 informative single‐nucleotide polymorphisms, 2 <i>PRDM2</i> single‐nucleotide polymorphisms were significantly associated with an increased risk of Parkinson's disease at the Bonferroni‐corrected significance level of 0.0004 (rs2744690: OR, 1.54; SE(logOR), .109; 99.96% CI, 1.05–2.26; uncorrected <i>P</i> = .0001; rs2744687: OR, 1.53; SE(logOR), .113; 99.96% CI, 1.03–2.29, uncorrected <i>P</i> = .0002); the association was significant in the women‐only stratum but not in the men‐only stratum. An additional 6 single‐nucleotide polymorphisms in <i>PRDM2</i>, 2 in <i>ESR1</i>, 1 in <i>ESR2</i>, and 1 in <i>CYP19A1</i> had significant <i>P</i> values in the overall sample before Bonferroni correction. None of the single‐nucleotide polymorphisms were significantly associated with age at onset of Parkinson's disease after Bonferroni correction. Our results confirm the association of <i>PRDM2</i> variants with Parkinson's disease susceptibility, especially in women. © 2011 Movement Disorder Society</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn15"><p><b>Relevant conflicts of interest/financial disclosures:</b> The major aspects of the research program were funded by the National Institutes of Health (7 R01 ES010751‐10). Sun Ju Chung has been employed as Assistant Professor, Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea and has received funding for travel from Glaxo‐SmithKline Korea. Sebastian M. Armasu has been employed as a Statistician I, Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic (Rochester, MN) and has received funding from the National Institutes of Health (7 R01 ES010751‐10 [coinvestigator], 1 P50 CA136393‐01A1 [coinvestigator], 5 U01 HG004735‐02 [coinvestigator]). Joanna M. Biernacka has been employed as Assistant Professor of Biostatistics and Psychiatry, Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic (Rochester, MN) and has received funding from the National Institutes of Health (1 P20 AA017830‐01 [coinvestigator], 7 R01 ES010751‐10 [coinvestigator], 1 R03 AA019570‐01 [primary investigator], 1 R01 MH079261‐01A2 [coinvestigator]). Timothy G. Lesnick has been employed as a Statistician III, Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic (Rochester, MN), may accrue revenue from pending patent applications related to the prediction of Parkinson disease, and receives research support from the National Institutes of Health (7 R01 ES010751‐10 [coinvestigator]). David N. Rider has been employed as a Senior Analyst/Programmer, Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic (Rochester, MN) and has no disclosures to report. Julie M. Cunningham has been employed as an Assistant Professor of Laboratory Medicine and Pathology, Mayo Genomics Research Center, Mayo Clinic (Rochester, MN) and has no disclosures to report. Demetrius M. Maraganore is the Ruth Cain Ruggles Chairman of the Department of Neurology, and Medical Director of the Neurological Institute, NorthShore University HealthSystem (Evanston, IL). He may accrue revenue from pending patent applications related to the prediction of Parkinson disease and the treatment of neurodegenerative disease, has received license fee payments and royalty payments from Alnylam Pharmaceuticals (method to treat Parkinson's disease), and receives research support from the National Institutes of Health (7 R01 ES010751‐10 [primary investigator]).</p><p>Full financial disclosures and author roles can be found in the online version of this article.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Variants in estrogen‐related genes and risk of Parkinson's disease</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Estrogen‐Related Gene Variants and Risk of PD</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Variants in estrogen‐related genes and risk of Parkinson's disease</title></titleInfo><name type="personal"><namePart type="given">Sun Ju</namePart><namePart type="family">Chung</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA</affiliation><affiliation>Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sebastian M.</namePart><namePart type="family">Armasu</namePart><namePart type="termsOfAddress">MS</namePart><affiliation>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Joanna M.</namePart><namePart type="family">Biernacka</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Timothy G.</namePart><namePart type="family">Lesnick</namePart><namePart type="termsOfAddress">MS</namePart><affiliation>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">David N.</namePart><namePart type="family">Rider</namePart><namePart type="termsOfAddress">MSE</namePart><affiliation>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Julie M.</namePart><namePart type="family">Cunningham</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Laboratory Medicine, Mayo Clinic, Rochester, Minnesota, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Demetrius M.</namePart><namePart type="family">Maraganore</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA</affiliation><affiliation>Department of Neurology, NorthShore University HealthSystem, Evanston, Illinois, USA</affiliation><description>Correspondence: Ruth Cain Ruggles Chairman, Department of Neurology, NorthShore University HealthSystem, 2650 Ridge Avenue, Evanston, IL 60201, USA</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">2011-06</dateIssued><dateCaptured encoding="w3cdtf">2010-03-08</dateCaptured><dateValid encoding="w3cdtf">2010-11-29</dateValid><copyrightDate encoding="w3cdtf">2011</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">1</extent><extent unit="tables">3</extent><extent unit="references">46</extent><extent unit="words">8583</extent></physicalDescription><abstract lang="en">Incidence rates of Parkinson's disease are higher in men than in women at all ages, and these differences may be a result of the neuroprotective effects of estrogen on the nigrostriatal pathway. We investigated the association of common variants in 4 estrogen‐related genes with Parkinson's disease. Tagging single‐nucleotide polymorphisms in the CYP19A1, ESR1, ESR2, and PRDM2 genes were selected from the International Haplotype Map and genotyped in 1103 Parkinson's disease cases from the upper Midwest of the United States and in 1103 individually matched controls (654 unaffected siblings, and 449 unrelated controls from the same region). Of 137 informative single‐nucleotide polymorphisms, 2 PRDM2 single‐nucleotide polymorphisms were significantly associated with an increased risk of Parkinson's disease at the Bonferroni‐corrected significance level of 0.0004 (rs2744690: OR, 1.54; SE(logOR), .109; 99.96% CI, 1.05–2.26; uncorrected P = .0001; rs2744687: OR, 1.53; SE(logOR), .113; 99.96% CI, 1.03–2.29, uncorrected P = .0002); the association was significant in the women‐only stratum but not in the men‐only stratum. An additional 6 single‐nucleotide polymorphisms in PRDM2, 2 in ESR1, 1 in ESR2, and 1 in CYP19A1 had significant P values in the overall sample before Bonferroni correction. None of the single‐nucleotide polymorphisms were significantly associated with age at onset of Parkinson's disease after Bonferroni correction. Our results confirm the association of PRDM2 variants with Parkinson's disease susceptibility, especially in women. © 2011 Movement Disorder Society</abstract><note type="content">*Relevant conflicts of interest/financial disclosures: The major aspects of the research program were funded by the National Institutes of Health (7 R01 ES010751‐10). Sun Ju Chung has been employed as Assistant Professor, Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea and has received funding for travel from Glaxo‐SmithKline Korea. Sebastian M. Armasu has been employed as a Statistician I, Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic (Rochester, MN) and has received funding from the National Institutes of Health (7 R01 ES010751‐10 [coinvestigator], 1 P50 CA136393‐01A1 [coinvestigator], 5 U01 HG004735‐02 [coinvestigator]). Joanna M. Biernacka has been employed as Assistant Professor of Biostatistics and Psychiatry, Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic (Rochester, MN) and has received funding from the National Institutes of Health (1 P20 AA017830‐01 [coinvestigator], 7 R01 ES010751‐10 [coinvestigator], 1 R03 AA019570‐01 [primary investigator], 1 R01 MH079261‐01A2 [coinvestigator]). Timothy G. Lesnick has been employed as a Statistician III, Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic (Rochester, MN), may accrue revenue from pending patent applications related to the prediction of Parkinson disease, and receives research support from the National Institutes of Health (7 R01 ES010751‐10 [coinvestigator]). David N. Rider has been employed as a Senior Analyst/Programmer, Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic (Rochester, MN) and has no disclosures to report. Julie M. Cunningham has been employed as an Assistant Professor of Laboratory Medicine and Pathology, Mayo Genomics Research Center, Mayo Clinic (Rochester, MN) and has no disclosures to report. Demetrius M. Maraganore is the Ruth Cain Ruggles Chairman of the Department of Neurology, and Medical Director of the Neurological Institute, NorthShore University HealthSystem (Evanston, IL). He may accrue revenue from pending patent applications related to the prediction of Parkinson disease and the treatment of neurodegenerative disease, has received license fee payments and royalty payments from Alnylam Pharmaceuticals (method to treat Parkinson's disease), and receives research support from the National Institutes of Health (7 R01 ES010751‐10 [primary investigator]). Full financial disclosures and author roles can be found in the online version of this article.</note><subject lang="en"><genre>Keywords</genre><topic>Parkinson's disease</topic><topic>estrogen</topic><topic>genes</topic><topic>common genetic variation</topic><topic>PRDM2</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><genre type="Journal">journal</genre><note type="content"> Additional Supporting Information may be found in the online version of this article.Supporting Info Item: Supporting Figure 1A - Supporting Figure 1B - Supporting Figure 1C - Supporting Figure 1D - Supporting Table 1 - </note><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>2011</date><detail type="volume"><caption>vol.</caption><number>26</number></detail><detail type="issue"><caption>no.</caption><number>7</number></detail><extent unit="pages"><start>1234</start><end>1242</end><total>9</total></extent></part></relatedItem><identifier type="istex">EEDDCEA379F45FE9645D61285DAAD9634CD2C000</identifier><identifier type="DOI">10.1002/mds.23604</identifier><identifier type="ArticleID">MDS23604</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2011 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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