SNPs in CAST are associated with Parkinson disease: A confirmation study
Identifieur interne : 002D15 ( Main/Corpus ); précédent : 002D14; suivant : 002D16SNPs in CAST are associated with Parkinson disease: A confirmation study
Auteurs : Andrew S. Allen ; Glen A. SattenSource :
- American Journal of Medical Genetics Part B: Neuropsychiatric Genetics [ 1552-4841 ] ; 2010-06.
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Abstract
Using data from the National Institutes of Neurological disease and Stroke's (NINDS) study of Parkinson disease (PD), we recently reported that single nucleotide polymorphisms (SNPs) in a region containing the Calpastatin (CAST) gene were associated with PD. Here we follow up this finding with an analysis of the Center for Inherited Disease Research's (CIDR) genome‐wide association study in familial PD. After adjusting for population stratification and multiple testing, we find a significant association (P = 0.0167) between PD and SNP rs1559085 in CAST. These findings confirm CAST/PD associations in a second, independent, dataset and suggest that CAST be prioritized for further investigation. © 2010 Wiley‐Liss, Inc.
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DOI: 10.1002/ajmg.b.31061
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Allen</name><affiliation><mods:affiliation>Department of Biostatistics and Bioinformatics, Duke University, Durham, North Carolina</mods:affiliation></affiliation><affiliation><mods:affiliation>Duke Clinical Research Institute, Duke University, Durham, North Carolina</mods:affiliation></affiliation></author><author><name sortKey="Satten, Glen A" sort="Satten, Glen A" uniqKey="Satten G" first="Glen A." last="Satten">Glen A. Satten</name><affiliation><mods:affiliation>Centers for Disease Control and Prevention, Atlanta, Georgia</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">American Journal of Medical Genetics Part B: Neuropsychiatric Genetics</title><title level="j" type="abbrev">Am. J. Med. 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Here we follow up this finding with an analysis of the Center for Inherited Disease Research's (CIDR) genome‐wide association study in familial PD. After adjusting for population stratification and multiple testing, we find a significant association (P = 0.0167) between PD and SNP rs1559085 in CAST. These findings confirm CAST/PD associations in a second, independent, dataset and suggest that CAST be prioritized for further investigation. © 2010 Wiley‐Liss, Inc.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Andrew S. Allen</name><affiliations><json:string>Department of Biostatistics and Bioinformatics, Duke University, Durham, North Carolina</json:string><json:string>Duke Clinical Research Institute, Duke University, Durham, North Carolina</json:string></affiliations></json:item><json:item><name>Glen A. Satten</name><affiliations><json:string>Centers for Disease Control and Prevention, Atlanta, Georgia</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Parkinson disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>calpastatin</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>SNP association</value></json:item></subject><articleId><json:string>AJMG31061</json:string></articleId><language><json:string>eng</json:string></language><abstract>Using data from the National Institutes of Neurological disease and Stroke's (NINDS) study of Parkinson disease (PD), we recently reported that single nucleotide polymorphisms (SNPs) in a region containing the Calpastatin (CAST) gene were associated with PD. Here we follow up this finding with an analysis of the Center for Inherited Disease Research's (CIDR) genome‐wide association study in familial PD. After adjusting for population stratification and multiple testing, we find a significant association (P = 0.0167) between PD and SNP rs1559085 in CAST. These findings confirm CAST/PD associations in a second, independent, dataset and suggest that CAST be prioritized for further investigation. © 2010 Wiley‐Liss, Inc.</abstract><qualityIndicators><score>3.757</score><pdfVersion>1.3</pdfVersion><pdfPageSize>594 x 792 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>3</keywordCount><abstractCharCount>725</abstractCharCount><pdfWordCount>2509</pdfWordCount><pdfCharCount>19412</pdfCharCount><pdfPageCount>7</pdfPageCount><abstractWordCount>104</abstractWordCount></qualityIndicators><title>SNPs in CAST are associated with Parkinson disease: A confirmation study</title><genre><json:string>brief communication</json:string></genre><host><volume>153B</volume><publisherId><json:string>AJMG</json:string></publisherId><pages><total>7</total><last>979</last><first>973</first></pages><issn><json:string>1552-4841</json:string></issn><issue>4</issue><subject><json:item><value>Brief Research Communication</value></json:item></subject><genre><json:string>Journal</json:string></genre><language><json:string>unknown</json:string></language><eissn><json:string>1552-485X</json:string></eissn><title>American Journal of Medical Genetics Part B: Neuropsychiatric Genetics</title><doi><json:string>10.1002/(ISSN)1552-485X</json:string></doi></host><publicationDate>2010</publicationDate><copyrightDate>2010</copyrightDate><doi><json:string>10.1002/ajmg.b.31061</json:string></doi><id>44022C87D532059061BC1B11716C42C87F2E0B9D</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/44022C87D532059061BC1B11716C42C87F2E0B9D/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/44022C87D532059061BC1B11716C42C87F2E0B9D/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/44022C87D532059061BC1B11716C42C87F2E0B9D/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">SNPs in CAST are associated with Parkinson disease: A confirmation study</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>WILEY</p></availability><date>2010</date></publicationStmt><notesStmt><note type="content">*How to Cite this Article: Allen AS, Satten GA. 2010. SNPs in CAST Are Associated With Parkinson Disease: A Confirmation Study. Am J Med Genet Part B 153B: 973–979.</note><note>NINDS (Foroud/Myers, PI)</note><note>NHLBI - No. K25 HL077663;</note><note>NIMH - No. R01 MH084680;</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">SNPs in CAST are associated with Parkinson disease: A confirmation study</title><author><persName><forename type="first">Andrew S.</forename><surname>Allen</surname></persName><note type="correspondence"><p>Correspondence: Department of Biostatistics and Bioinformatics, DUMC 2721, 2424 Erwin Road, Suite 1102, Durham, NC 27710.</p></note><affiliation>Department of Biostatistics and Bioinformatics, Duke University, Durham, North Carolina</affiliation><affiliation>Duke Clinical Research Institute, Duke University, Durham, North Carolina</affiliation></author><author><persName><forename type="first">Glen A.</forename><surname>Satten</surname></persName><affiliation>Centers for Disease Control and Prevention, Atlanta, Georgia</affiliation></author></analytic><monogr><title level="j">American Journal of Medical Genetics Part B: Neuropsychiatric Genetics</title><title level="j" type="abbrev">Am. 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Genet.</title><idno type="pISSN">1552-4841</idno><idno type="eISSN">1552-485X</idno><idno type="DOI">10.1002/(ISSN)1552-485X</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2010-06"></date><biblScope unit="volume">153B</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="973">973</biblScope><biblScope unit="page" to="979">979</biblScope></imprint></monogr><idno type="istex">44022C87D532059061BC1B11716C42C87F2E0B9D</idno><idno type="DOI">10.1002/ajmg.b.31061</idno><idno type="ArticleID">AJMG31061</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2010</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Using data from the National Institutes of Neurological disease and Stroke's (NINDS) study of Parkinson disease (PD), we recently reported that single nucleotide polymorphisms (SNPs) in a region containing the Calpastatin (CAST) gene were associated with PD. Here we follow up this finding with an analysis of the Center for Inherited Disease Research's (CIDR) genome‐wide association study in familial PD. After adjusting for population stratification and multiple testing, we find a significant association (P = 0.0167) between PD and SNP rs1559085 in CAST. These findings confirm CAST/PD associations in a second, independent, dataset and suggest that CAST be prioritized for further investigation. © 2010 Wiley‐Liss, Inc.</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>Parkinson disease</term></item><item><term>calpastatin</term></item><item><term>SNP association</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>article category</head><item><term>Brief Research Communication</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2009-08-19">Received</change><change when="2009-12-07">Registration</change><change when="2010-06">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/44022C87D532059061BC1B11716C42C87F2E0B9D/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)1552-485X</doi><issn type="print">1552-4841</issn><issn type="electronic">1552-485X</issn><idGroup><id type="product" value="AJMG"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="AMERICAN JOURNAL OF MEDICAL GENETICS PART B: NEUROPSYCHIATRIC GENETICS">American Journal of Medical Genetics Part B: Neuropsychiatric Genetics</title><title type="short">Am. 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Red lines denote individuals whose DNA did not require amplification. Black lines denote individuals whose DNA was extracted via whole genome applification.</caption></supportingInfoItem><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:15524841:media:ajmg31061:AJMB_31061_sm_SupplFigS2"></mediaResource><caption>Supplemental Figure 2: Empirical CDF of 10th percentile of genotype quality score. Red lines denote individuals whose DNA did not require amplification. Black lines denote individuals whose DNA was extracted via whole genome applification.</caption></supportingInfoItem><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:15524841:media:ajmg31061:AJMB_31061_sm_SupplFigS3"></mediaResource><caption>Supplemental Figure 3: Empirical CDF of 50th percentile of genotype quality score. Red lines denote individuals whose DNA did not require amplification. Black lines denote individuals whose DNA was extracted via whole genome applification.</caption></supportingInfoItem><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:15524841:media:ajmg31061:AJMB_31061_sm_SupplFigS4"></mediaResource><caption>Supplemental Figure 4: Empirical CDF of average heterozygosity. Red lines denote individuals whose DNA did not require amplification. Black lines denote individuals whose DNA was extracted via whole genome applification.</caption></supportingInfoItem><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:15524841:media:ajmg31061:AJMB_31061_sm_SupplTabS1"></mediaResource><caption>Supplemental Table S1: Summary of allele frequencies and Mantel‐Haenszel estimated odds‐ratios across NINDS PD and CIDR PD studies.</caption></supportingInfoItem></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Using data from the National Institutes of Neurological disease and Stroke's (NINDS) study of Parkinson disease (PD), we recently reported that single nucleotide polymorphisms (SNPs) in a region containing the Calpastatin (CAST) gene were associated with PD. Here we follow up this finding with an analysis of the Center for Inherited Disease Research's (CIDR) genome‐wide association study in familial PD. After adjusting for population stratification and multiple testing, we find a significant association (<i>P</i> = 0.0167) between PD and SNP rs1559085 in CAST. These findings confirm CAST/PD associations in a second, independent, dataset and suggest that CAST be prioritized for further investigation. © 2010 Wiley‐Liss, Inc.</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>How to Cite this Article: Allen AS, Satten GA. 2010. SNPs in CAST Are Associated With Parkinson Disease: A Confirmation Study. Am J Med Genet Part B 153B: 973–979.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>SNPs in CAST are associated with Parkinson disease: A confirmation study</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>SNPs in CAST are associated with Parkinson disease: A confirmation study</title></titleInfo><name type="personal"><namePart type="given">Andrew S.</namePart><namePart type="family">Allen</namePart><affiliation>Department of Biostatistics and Bioinformatics, Duke University, Durham, North Carolina</affiliation><affiliation>Duke Clinical Research Institute, Duke University, Durham, North Carolina</affiliation><description>Correspondence: Department of Biostatistics and Bioinformatics, DUMC 2721, 2424 Erwin Road, Suite 1102, Durham, NC 27710.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Glen A.</namePart><namePart type="family">Satten</namePart><affiliation>Centers for Disease Control and Prevention, Atlanta, Georgia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="brief communication" displayLabel="shortCommunication"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2010-06</dateIssued><dateCaptured encoding="w3cdtf">2009-08-19</dateCaptured><dateValid encoding="w3cdtf">2009-12-07</dateValid><copyrightDate encoding="w3cdtf">2010</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">1</extent><extent unit="references">20</extent><extent unit="words">4684</extent></physicalDescription><abstract lang="en">Using data from the National Institutes of Neurological disease and Stroke's (NINDS) study of Parkinson disease (PD), we recently reported that single nucleotide polymorphisms (SNPs) in a region containing the Calpastatin (CAST) gene were associated with PD. Here we follow up this finding with an analysis of the Center for Inherited Disease Research's (CIDR) genome‐wide association study in familial PD. After adjusting for population stratification and multiple testing, we find a significant association (P = 0.0167) between PD and SNP rs1559085 in CAST. These findings confirm CAST/PD associations in a second, independent, dataset and suggest that CAST be prioritized for further investigation. © 2010 Wiley‐Liss, Inc.</abstract><note type="content">*How to Cite this Article: Allen AS, Satten GA. 2010. SNPs in CAST Are Associated With Parkinson Disease: A Confirmation Study. Am J Med Genet Part B 153B: 973–979.</note><note type="funding">NINDS (Foroud/Myers, PI)</note><note type="funding">NHLBI - No. K25 HL077663; </note><note type="funding">NIMH - No. R01 MH084680; </note><subject lang="en"><genre>Keywords</genre><topic>Parkinson disease</topic><topic>calpastatin</topic><topic>SNP association</topic></subject><relatedItem type="host"><titleInfo><title>American Journal of Medical Genetics Part B: Neuropsychiatric Genetics</title></titleInfo><titleInfo type="abbreviated"><title>Am. J. Med. Genet.</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: Supplemental Figure 1: Empirical CDF of call rates. Red lines denote individuals whose DNA did not require amplification. Black lines denote individuals whose DNA was extracted via whole genome applification. - Supplemental Figure 2: Empirical CDF of 10th percentile of genotype quality score. Red lines denote individuals whose DNA did not require amplification. Black lines denote individuals whose DNA was extracted via whole genome applification. - Supplemental Figure 3: Empirical CDF of 50th percentile of genotype quality score. Red lines denote individuals whose DNA did not require amplification. Black lines denote individuals whose DNA was extracted via whole genome applification. - Supplemental Figure 4: Empirical CDF of average heterozygosity. Red lines denote individuals whose DNA did not require amplification. Black lines denote individuals whose DNA was extracted via whole genome applification. - Supplemental Table S1: Summary of allele frequencies and Mantel‐Haenszel estimated odds‐ratios across NINDS PD and CIDR PD studies. - </note><subject><genre>article category</genre><topic>Brief Research Communication</topic></subject><identifier type="ISSN">1552-4841</identifier><identifier type="eISSN">1552-485X</identifier><identifier type="DOI">10.1002/(ISSN)1552-485X</identifier><identifier type="PublisherID">AJMG</identifier><part><date>2010</date><detail type="volume"><caption>vol.</caption><number>153B</number></detail><detail type="issue"><caption>no.</caption><number>4</number></detail><extent unit="pages"><start>973</start><end>979</end><total>7</total></extent></part></relatedItem><relatedItem type="preceding"><titleInfo><title>American Journal of Medical Genetics</title></titleInfo><identifier type="ISSN">0148-7299</identifier><identifier type="ISSN">1096-8628</identifier><part><date point="end">2004</date></part></relatedItem><identifier type="istex">44022C87D532059061BC1B11716C42C87F2E0B9D</identifier><identifier type="DOI">10.1002/ajmg.b.31061</identifier><identifier type="ArticleID">AJMG31061</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2010 Wiley‐Liss, Inc.</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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