Glutathione S‐transferase polymorphisms and onset age in α‐synuclein A53T mutant Parkinson's disease
Identifieur interne : 001B51 ( Main/Corpus ); précédent : 001B50; suivant : 001B52Glutathione S‐transferase polymorphisms and onset age in α‐synuclein A53T mutant Parkinson's disease
Auteurs : Lawrence I. Golbe ; Giuseppe Di Iorio ; Katerina Markopoulou ; Aglaia Athanassiadou ; Spiridon Papapetropoulos ; Ray L. Watts ; Jeffery M. Vance ; Vincenzo Bonifati ; Tanishia A. Williams ; John R. Spychala ; E. Scot Stenroos ; Williams G. JohnsonSource :
- American Journal of Medical Genetics Part B: Neuropsychiatric Genetics [ 1552-4841 ] ; 2007-03-05.
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Abstract
Monogenic forms of Parkinson's disease (PD) provide an opportunity to examine mechanisms underlying phenotypic variation. Glutathione S‐transferase (GST) has detoxification and antioxidative functions. To screen genetic variations in GST for an effect on the onset age (OA) of PD, we typed seven common genetic polymorphisms in five GST isoenzymes, M1, M3, P1, T1, and Z1, in 36 affected individuals of Italian or Greek origin with the α‐synuclein A53T (PARK1) mutation. Mean OA was 45.2 years with a wide SD of 11.03 years, similar to that of idiopathic PD. Our allelic analysis showed that the subjects homozygous for the GSTP1 G‐for‐A nucleotide substitution at position 313 had a mean OA acceleration of 15.2 years (31.3 ± 7.09 years, n = 3 vs. 46.5 ± 10.50 years, n = 33, P = 0.020). The GSTP1 C341T substitution was associated with a 9.7‐year acceleration of OA, but the significance was borderline (36.4 ± 8.35 years vs. 46.7 ± 10.85 years, P = 0.0519). After correction for the five genes examined, both results lose statistical significance. Nevertheless, our results suggest that further investigation in GSTP1 variants and PD pathogenesis is warranted in sporadic PD and that a search for toxins that accelerate PD OA should pay particular attention to GST‐P1 substrates. © 2006 Wiley‐Liss, Inc.
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DOI: 10.1002/ajmg.b.30450
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Golbe</name><affiliation><mods:affiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey‐Robert Wood Johnson Medical School, New Brunswick, New Jersey</mods:affiliation></affiliation></author><author><name sortKey="Iorio, Giuseppe Di" sort="Iorio, Giuseppe Di" uniqKey="Iorio G" first="Giuseppe Di" last="Iorio">Giuseppe Di Iorio</name><affiliation><mods:affiliation>Institute of Neurological Sciences, Second University of Naples, Naples, Italy</mods:affiliation></affiliation></author><author><name sortKey="Markopoulou, Katerina" sort="Markopoulou, Katerina" uniqKey="Markopoulou K" first="Katerina" last="Markopoulou">Katerina Markopoulou</name><affiliation><mods:affiliation>Department of Neurology, University of Thessaly, Larissa, Greece</mods:affiliation></affiliation></author><author><name sortKey="Athanassiadou, Aglaia" sort="Athanassiadou, Aglaia" uniqKey="Athanassiadou A" first="Aglaia" last="Athanassiadou">Aglaia Athanassiadou</name><affiliation><mods:affiliation>Department of Neurology, University of Patras, Patras, Greece</mods:affiliation></affiliation></author><author><name sortKey="Papapetropoulos, Spiridon" sort="Papapetropoulos, Spiridon" uniqKey="Papapetropoulos S" first="Spiridon" last="Papapetropoulos">Spiridon Papapetropoulos</name><affiliation><mods:affiliation>Department of Neurology, University of Miami, Miller School of Medicine, Miami, Florida</mods:affiliation></affiliation></author><author><name sortKey="Watts, Ray L" sort="Watts, Ray L" uniqKey="Watts R" first="Ray L." last="Watts">Ray L. 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Williams</name><affiliation><mods:affiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey‐Robert Wood Johnson Medical School, New Brunswick, New Jersey</mods:affiliation></affiliation></author><author><name sortKey="Spychala, John R" sort="Spychala, John R" uniqKey="Spychala J" first="John R." last="Spychala">John R. Spychala</name><affiliation><mods:affiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey‐Robert Wood Johnson Medical School, New Brunswick, New Jersey</mods:affiliation></affiliation></author><author><name sortKey="Stenroos, E Scot" sort="Stenroos, E Scot" uniqKey="Stenroos E" first="E. Scot" last="Stenroos">E. 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Genet.</title><idno type="ISSN">1552-4841</idno><idno type="eISSN">1552-485X</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-03-05">2007-03-05</date><biblScope unit="volume">144B</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="254">254</biblScope><biblScope unit="page" to="258">258</biblScope></imprint><idno type="ISSN">1552-4841</idno></series><idno type="istex">7559785F1F9BEE8BBD39F79F9B183E1122C5FC78</idno><idno type="DOI">10.1002/ajmg.b.30450</idno><idno type="ArticleID">AJMG30450</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4841</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Contursi kindred</term><term>GST‐P1</term><term>PARK‐1</term><term>detoxification</term><term>glutathione</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Monogenic forms of Parkinson's disease (PD) provide an opportunity to examine mechanisms underlying phenotypic variation. Glutathione S‐transferase (GST) has detoxification and antioxidative functions. To screen genetic variations in GST for an effect on the onset age (OA) of PD, we typed seven common genetic polymorphisms in five GST isoenzymes, M1, M3, P1, T1, and Z1, in 36 affected individuals of Italian or Greek origin with the α‐synuclein A53T (PARK1) mutation. Mean OA was 45.2 years with a wide SD of 11.03 years, similar to that of idiopathic PD. Our allelic analysis showed that the subjects homozygous for the GSTP1 G‐for‐A nucleotide substitution at position 313 had a mean OA acceleration of 15.2 years (31.3 ± 7.09 years, n = 3 vs. 46.5 ± 10.50 years, n = 33, P = 0.020). The GSTP1 C341T substitution was associated with a 9.7‐year acceleration of OA, but the significance was borderline (36.4 ± 8.35 years vs. 46.7 ± 10.85 years, P = 0.0519). After correction for the five genes examined, both results lose statistical significance. Nevertheless, our results suggest that further investigation in GSTP1 variants and PD pathogenesis is warranted in sporadic PD and that a search for toxins that accelerate PD OA should pay particular attention to GST‐P1 substrates. © 2006 Wiley‐Liss, Inc.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Lawrence I. Golbe</name><affiliations><json:string>Department of Neurology, University of Medicine and Dentistry of New Jersey‐Robert Wood Johnson Medical School, New Brunswick, New Jersey</json:string></affiliations></json:item><json:item><name>Giuseppe Di Iorio</name><affiliations><json:string>Institute of Neurological Sciences, Second University of Naples, Naples, Italy</json:string></affiliations></json:item><json:item><name>Katerina Markopoulou</name><affiliations><json:string>Department of Neurology, University of Thessaly, Larissa, Greece</json:string></affiliations></json:item><json:item><name>Aglaia Athanassiadou</name><affiliations><json:string>Department of Neurology, University of Patras, Patras, Greece</json:string></affiliations></json:item><json:item><name>Spiridon Papapetropoulos</name><affiliations><json:string>Department of Neurology, University of Miami, Miller School of Medicine, Miami, Florida</json:string></affiliations></json:item><json:item><name>Ray L. Watts</name><affiliations><json:string>Department of Neurology, University of Alabama‐Birmingham, Birmingham, Alabama</json:string></affiliations></json:item><json:item><name>Jeffery M. Vance</name><affiliations><json:string>Division of Neurology, Department of Medicine, Duke University, Durham, North Carolina</json:string></affiliations></json:item><json:item><name>Vincenzo Bonifati</name><affiliations><json:string>Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands</json:string></affiliations></json:item><json:item><name>Tanishia A. Williams</name><affiliations><json:string>Department of Neurology, University of Medicine and Dentistry of New Jersey‐Robert Wood Johnson Medical School, New Brunswick, New Jersey</json:string></affiliations></json:item><json:item><name>John R. Spychala</name><affiliations><json:string>Department of Neurology, University of Medicine and Dentistry of New Jersey‐Robert Wood Johnson Medical School, New Brunswick, New Jersey</json:string></affiliations></json:item><json:item><name>E. Scot Stenroos</name><affiliations><json:string>Department of Neurology, University of Medicine and Dentistry of New Jersey‐Robert Wood Johnson Medical School, New Brunswick, New Jersey</json:string></affiliations></json:item><json:item><name>Williams G. Johnson</name><affiliations><json:string>Department of Neurology, University of Medicine and Dentistry of New Jersey‐Robert Wood Johnson Medical School, New Brunswick, New Jersey</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>PARK‐1</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Contursi kindred</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>detoxification</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>glutathione</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>GST‐P1</value></json:item></subject><articleId><json:string>AJMG30450</json:string></articleId><language><json:string>eng</json:string></language><abstract>Monogenic forms of Parkinson's disease (PD) provide an opportunity to examine mechanisms underlying phenotypic variation. Glutathione S‐transferase (GST) has detoxification and antioxidative functions. To screen genetic variations in GST for an effect on the onset age (OA) of PD, we typed seven common genetic polymorphisms in five GST isoenzymes, M1, M3, P1, T1, and Z1, in 36 affected individuals of Italian or Greek origin with the α‐synuclein A53T (PARK1) mutation. Mean OA was 45.2 years with a wide SD of 11.03 years, similar to that of idiopathic PD. Our allelic analysis showed that the subjects homozygous for the GSTP1 G‐for‐A nucleotide substitution at position 313 had a mean OA acceleration of 15.2 years (31.3 ± 7.09 years, n = 3 vs. 46.5 ± 10.50 years, n = 33, P = 0.020). The GSTP1 C341T substitution was associated with a 9.7‐year acceleration of OA, but the significance was borderline (36.4 ± 8.35 years vs. 46.7 ± 10.85 years, P = 0.0519). After correction for the five genes examined, both results lose statistical significance. Nevertheless, our results suggest that further investigation in GSTP1 variants and PD pathogenesis is warranted in sporadic PD and that a search for toxins that accelerate PD OA should pay particular attention to GST‐P1 substrates. © 2006 Wiley‐Liss, Inc.</abstract><qualityIndicators><score>6.233</score><pdfVersion>1.3</pdfVersion><pdfPageSize>594 x 792 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>5</keywordCount><abstractCharCount>1306</abstractCharCount><pdfWordCount>3893</pdfWordCount><pdfCharCount>24869</pdfCharCount><pdfPageCount>5</pdfPageCount><abstractWordCount>195</abstractWordCount></qualityIndicators><title>Glutathione S‐transferase polymorphisms and onset age in α‐synuclein A53T mutant Parkinson's disease</title><genre><json:string>article</json:string></genre><host><volume>144B</volume><publisherId><json:string>AJMG</json:string></publisherId><pages><total>5</total><last>258</last><first>254</first></pages><issn><json:string>1552-4841</json:string></issn><issue>2</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>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>2007</publicationDate><copyrightDate>2007</copyrightDate><doi><json:string>10.1002/ajmg.b.30450</json:string></doi><id>7559785F1F9BEE8BBD39F79F9B183E1122C5FC78</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/7559785F1F9BEE8BBD39F79F9B183E1122C5FC78/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/7559785F1F9BEE8BBD39F79F9B183E1122C5FC78/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/7559785F1F9BEE8BBD39F79F9B183E1122C5FC78/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Glutathione S‐transferase polymorphisms and onset age in α‐synuclein A53T mutant 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>2007</date></publicationStmt><notesStmt><note type="content">*Please cite this article as follows: Golbe LI, Di Iorio G, Markopoulou K, Athanassiadou A, Papapetropoulos S, Watts RL, Vance JM, Bonifati V, Williams TA, Spychala JR, Stenroos ES, Johnson WG. 2006. Glutathione S‐Transferase Polymorphisms and Onset Age in α‐Synuclein A53T Mutant Parkinson's Disease. Am J Med Genet Part B 144B:254–258.</note><note>American Parkinson's Disease Association</note><note>NINDS (NIH) - No. NS43647;</note><note>William Dow Lovett Endowment of UMDNJ‐Robert Wood Johnson Medical School</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Glutathione S‐transferase polymorphisms and onset age in α‐synuclein A53T mutant Parkinson's disease</title><author><persName><forename type="first">Lawrence I.</forename><surname>Golbe</surname></persName><note type="correspondence"><p>Correspondence: 97 Paterson St., Room 204, New Brunswick, NJ 08840.</p></note><affiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey‐Robert Wood Johnson Medical School, New Brunswick, New Jersey</affiliation></author><author><persName><forename type="first">Giuseppe Di</forename><surname>Iorio</surname></persName><affiliation>Institute of Neurological Sciences, Second University of Naples, Naples, Italy</affiliation></author><author><persName><forename type="first">Katerina</forename><surname>Markopoulou</surname></persName><affiliation>Department of Neurology, University of Thessaly, Larissa, Greece</affiliation></author><author><persName><forename type="first">Aglaia</forename><surname>Athanassiadou</surname></persName><affiliation>Department of Neurology, University of Patras, Patras, Greece</affiliation></author><author><persName><forename type="first">Spiridon</forename><surname>Papapetropoulos</surname></persName><affiliation>Department of Neurology, University of Miami, Miller School of Medicine, Miami, Florida</affiliation></author><author><persName><forename type="first">Ray L.</forename><surname>Watts</surname></persName><affiliation>Department of Neurology, University of Alabama‐Birmingham, Birmingham, Alabama</affiliation></author><author><persName><forename type="first">Jeffery M.</forename><surname>Vance</surname></persName><affiliation>Division of Neurology, Department of Medicine, Duke University, Durham, North Carolina</affiliation></author><author><persName><forename type="first">Vincenzo</forename><surname>Bonifati</surname></persName><affiliation>Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands</affiliation></author><author><persName><forename type="first">Tanishia A.</forename><surname>Williams</surname></persName><affiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey‐Robert Wood Johnson Medical School, New Brunswick, New Jersey</affiliation></author><author><persName><forename type="first">John R.</forename><surname>Spychala</surname></persName><affiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey‐Robert Wood Johnson Medical School, New Brunswick, New Jersey</affiliation></author><author><persName><forename type="first">E. Scot</forename><surname>Stenroos</surname></persName><affiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey‐Robert Wood Johnson Medical School, New Brunswick, New Jersey</affiliation></author><author><persName><forename type="first">Williams G.</forename><surname>Johnson</surname></persName><affiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey‐Robert Wood Johnson Medical School, New Brunswick, New Jersey</affiliation></author></analytic><monogr><title level="j">American Journal of Medical Genetics Part B: Neuropsychiatric Genetics</title><title level="j" type="abbrev">Am. J. Med. 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="2007-03-05"></date><biblScope unit="volume">144B</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="254">254</biblScope><biblScope unit="page" to="258">258</biblScope></imprint></monogr><idno type="istex">7559785F1F9BEE8BBD39F79F9B183E1122C5FC78</idno><idno type="DOI">10.1002/ajmg.b.30450</idno><idno type="ArticleID">AJMG30450</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2007</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Monogenic forms of Parkinson's disease (PD) provide an opportunity to examine mechanisms underlying phenotypic variation. Glutathione S‐transferase (GST) has detoxification and antioxidative functions. To screen genetic variations in GST for an effect on the onset age (OA) of PD, we typed seven common genetic polymorphisms in five GST isoenzymes, M1, M3, P1, T1, and Z1, in 36 affected individuals of Italian or Greek origin with the α‐synuclein A53T (PARK1) mutation. Mean OA was 45.2 years with a wide SD of 11.03 years, similar to that of idiopathic PD. Our allelic analysis showed that the subjects homozygous for the GSTP1 G‐for‐A nucleotide substitution at position 313 had a mean OA acceleration of 15.2 years (31.3 ± 7.09 years, n = 3 vs. 46.5 ± 10.50 years, n = 33, P = 0.020). The GSTP1 C341T substitution was associated with a 9.7‐year acceleration of OA, but the significance was borderline (36.4 ± 8.35 years vs. 46.7 ± 10.85 years, P = 0.0519). After correction for the five genes examined, both results lose statistical significance. Nevertheless, our results suggest that further investigation in GSTP1 variants and PD pathogenesis is warranted in sporadic PD and that a search for toxins that accelerate PD OA should pay particular attention to GST‐P1 substrates. © 2006 Wiley‐Liss, Inc.</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>PARK‐1</term></item><item><term>Contursi kindred</term></item><item><term>detoxification</term></item><item><term>glutathione</term></item><item><term>GST‐P1</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="2006-05-19">Received</change><change when="2006-09-07">Registration</change><change when="2007-03-05">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/7559785F1F9BEE8BBD39F79F9B183E1122C5FC78/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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Genet.</title></titleGroup><selfCitationGroup><citation type="ancestor" xml:id="cit1"><journalTitle>American Journal of Medical Genetics</journalTitle><accessionId ref="info:x-wiley/issn/01487299">0148-7299</accessionId><accessionId ref="info:x-wiley/issn/10968628">1096-8628</accessionId><pubYear year="2004">2004</pubYear></citation></selfCitationGroup></publicationMeta><publicationMeta level="part" position="20"><doi origin="wiley" registered="yes">10.1002/ajmg.b.v144b:2</doi><numberingGroup><numbering type="journalVolume" number="144">144B</numbering><numbering type="journalIssue">2</numbering></numberingGroup><coverDate startDate="2007-03-05">5 March 2007</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="160" status="forIssue"><doi origin="wiley" registered="yes">10.1002/ajmg.b.30450</doi><idGroup><id type="unit" value="AJMG30450"></id></idGroup><countGroup><count type="pageTotal" number="5"></count></countGroup><titleGroup><title type="articleCategory">Research Article</title><title type="tocHeading1">Research Articles</title></titleGroup><copyright ownership="publisher">Copyright © 2006 Wiley‐Liss, Inc.</copyright><eventGroup><event type="manuscriptReceived" date="2006-05-19"></event><event type="manuscriptAccepted" date="2006-09-07"></event><event type="publishedOnlineEarlyUnpaginated" date="2006-10-10"></event><event type="firstOnline" date="2006-10-10"></event><event type="publishedOnlineFinalForm" date="2007-02-22"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.3.6 mode:FullText source:FullText result:FullText" date="2010-05-07"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-01-02"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-14"></event></eventGroup><numberingGroup><numbering type="pageFirst">254</numbering><numbering type="pageLast">258</numbering></numberingGroup><correspondenceTo>97 Paterson St., Room 204, New Brunswick, NJ 08840.</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:AJMG.AJMG30450.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="0"></count><count type="tableTotal" number="2"></count><count type="referenceTotal" number="40"></count><count type="wordTotal" number="4845"></count></countGroup><titleGroup><title type="main" xml:lang="en">Glutathione S‐transferase polymorphisms and onset age in α‐synuclein A53T mutant Parkinson's disease<link href="#fn1"></link></title><title type="short" xml:lang="en">Glutathione S‐Transferase Polymorphisms</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Lawrence I.</givenNames><familyName>Golbe</familyName></personName><contactDetails><email>golbe@umdnj.edu</email></contactDetails></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Giuseppe Di</givenNames><familyName>Iorio</familyName></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Katerina</givenNames><familyName>Markopoulou</familyName></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Aglaia</givenNames><familyName>Athanassiadou</familyName></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Spiridon</givenNames><familyName>Papapetropoulos</familyName></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af6"><personName><givenNames>Ray L.</givenNames><familyName>Watts</familyName></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af7"><personName><givenNames>Jeffery M.</givenNames><familyName>Vance</familyName></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af8"><personName><givenNames>Vincenzo</givenNames><familyName>Bonifati</familyName></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Tanishia A.</givenNames><familyName>Williams</familyName></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af1"><personName><givenNames>John R.</givenNames><familyName>Spychala</familyName></personName></creator><creator xml:id="au11" creatorRole="author" affiliationRef="#af1"><personName><givenNames>E. Scot</givenNames><familyName>Stenroos</familyName></personName></creator><creator xml:id="au12" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Williams G.</givenNames><familyName>Johnson</familyName></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey‐Robert Wood Johnson Medical School, New Brunswick, New Jersey</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="IT" type="organization"><unparsedAffiliation>Institute of Neurological Sciences, Second University of Naples, Naples, Italy</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="GR" type="organization"><unparsedAffiliation>Department of Neurology, University of Thessaly, Larissa, Greece</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="GR" type="organization"><unparsedAffiliation>Department of Neurology, University of Patras, Patras, Greece</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, University of Miami, Miller School of Medicine, Miami, Florida</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, University of Alabama‐Birmingham, Birmingham, Alabama</unparsedAffiliation></affiliation><affiliation xml:id="af7" countryCode="US" type="organization"><unparsedAffiliation>Division of Neurology, Department of Medicine, Duke University, Durham, North Carolina</unparsedAffiliation></affiliation><affiliation xml:id="af8" countryCode="NL" type="organization"><unparsedAffiliation>Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">PARK‐1</keyword><keyword xml:id="kwd2"><i>Contursi</i> kindred</keyword><keyword xml:id="kwd3">detoxification</keyword><keyword xml:id="kwd4">glutathione</keyword><keyword xml:id="kwd5">GST‐P1</keyword></keywordGroup><fundingInfo><fundingAgency>American Parkinson's Disease Association</fundingAgency></fundingInfo><fundingInfo><fundingAgency>NINDS (NIH)</fundingAgency><fundingNumber>NS43647</fundingNumber></fundingInfo><fundingInfo><fundingAgency>William Dow Lovett Endowment of UMDNJ‐Robert Wood Johnson Medical School</fundingAgency></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Monogenic forms of Parkinson's disease (PD) provide an opportunity to examine mechanisms underlying phenotypic variation. Glutathione S‐transferase (GST) has detoxification and antioxidative functions. To screen genetic variations in GST for an effect on the onset age (OA) of PD, we typed seven common genetic polymorphisms in five GST isoenzymes, M1, M3, P1, T1, and Z1, in 36 affected individuals of Italian or Greek origin with the α‐synuclein A53T (<i>PARK1</i>) mutation. Mean OA was 45.2 years with a wide SD of 11.03 years, similar to that of idiopathic PD. Our allelic analysis showed that the subjects homozygous for the <i>GSTP1</i> G‐for‐A nucleotide substitution at position 313 had a mean OA acceleration of 15.2 years (31.3 ± 7.09 years, <i>n</i> = 3 vs. 46.5 ± 10.50 years, <i>n</i> = 33, <i>P</i> = 0.020). The <i>GSTP1</i> C341T substitution was associated with a 9.7‐year acceleration of OA, but the significance was borderline (36.4 ± 8.35 years vs. 46.7 ± 10.85 years, <i>P</i> = 0.0519). After correction for the five genes examined, both results lose statistical significance. Nevertheless, our results suggest that further investigation in <i>GSTP1</i> variants and PD pathogenesis is warranted in sporadic PD and that a search for toxins that accelerate PD OA should pay particular attention to GST‐P1 substrates. © 2006 Wiley‐Liss, Inc.</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>Please cite this article as follows: Golbe LI, Di Iorio G, Markopoulou K, Athanassiadou A, Papapetropoulos S, Watts RL, Vance JM, Bonifati V, Williams TA, Spychala JR, Stenroos ES, Johnson WG. 2006. Glutathione S‐Transferase Polymorphisms and Onset Age in α‐Synuclein A53T Mutant Parkinson's Disease. Am J Med Genet Part B 144B:254–258.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Glutathione S‐transferase polymorphisms and onset age in α‐synuclein A53T mutant Parkinson's disease</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Glutathione S‐Transferase Polymorphisms</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Glutathione S‐transferase polymorphisms and onset age in α‐synuclein A53T mutant Parkinson's disease</title></titleInfo><name type="personal"><namePart type="given">Lawrence I.</namePart><namePart type="family">Golbe</namePart><affiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey‐Robert Wood Johnson Medical School, New Brunswick, New Jersey</affiliation><description>Correspondence: 97 Paterson St., Room 204, New Brunswick, NJ 08840.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Giuseppe Di</namePart><namePart type="family">Iorio</namePart><affiliation>Institute of Neurological Sciences, Second University of Naples, Naples, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Katerina</namePart><namePart type="family">Markopoulou</namePart><affiliation>Department of Neurology, University of Thessaly, Larissa, Greece</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Aglaia</namePart><namePart type="family">Athanassiadou</namePart><affiliation>Department of Neurology, University of Patras, Patras, Greece</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Spiridon</namePart><namePart type="family">Papapetropoulos</namePart><affiliation>Department of Neurology, University of Miami, Miller School of Medicine, Miami, Florida</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ray L.</namePart><namePart type="family">Watts</namePart><affiliation>Department of Neurology, University of Alabama‐Birmingham, Birmingham, Alabama</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jeffery M.</namePart><namePart type="family">Vance</namePart><affiliation>Division of Neurology, Department of Medicine, Duke University, Durham, North Carolina</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Vincenzo</namePart><namePart type="family">Bonifati</namePart><affiliation>Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Tanishia A.</namePart><namePart type="family">Williams</namePart><affiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey‐Robert Wood Johnson Medical School, New Brunswick, New Jersey</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">John R.</namePart><namePart type="family">Spychala</namePart><affiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey‐Robert Wood Johnson Medical School, New Brunswick, New Jersey</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">E. Scot</namePart><namePart type="family">Stenroos</namePart><affiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey‐Robert Wood Johnson Medical School, New Brunswick, New Jersey</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Williams G.</namePart><namePart type="family">Johnson</namePart><affiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey‐Robert Wood Johnson Medical School, New Brunswick, New Jersey</affiliation><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">2007-03-05</dateIssued><dateCaptured encoding="w3cdtf">2006-05-19</dateCaptured><dateValid encoding="w3cdtf">2006-09-07</dateValid><copyrightDate encoding="w3cdtf">2007</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="tables">2</extent><extent unit="references">40</extent><extent unit="words">4845</extent></physicalDescription><abstract lang="en">Monogenic forms of Parkinson's disease (PD) provide an opportunity to examine mechanisms underlying phenotypic variation. Glutathione S‐transferase (GST) has detoxification and antioxidative functions. To screen genetic variations in GST for an effect on the onset age (OA) of PD, we typed seven common genetic polymorphisms in five GST isoenzymes, M1, M3, P1, T1, and Z1, in 36 affected individuals of Italian or Greek origin with the α‐synuclein A53T (PARK1) mutation. Mean OA was 45.2 years with a wide SD of 11.03 years, similar to that of idiopathic PD. Our allelic analysis showed that the subjects homozygous for the GSTP1 G‐for‐A nucleotide substitution at position 313 had a mean OA acceleration of 15.2 years (31.3 ± 7.09 years, n = 3 vs. 46.5 ± 10.50 years, n = 33, P = 0.020). The GSTP1 C341T substitution was associated with a 9.7‐year acceleration of OA, but the significance was borderline (36.4 ± 8.35 years vs. 46.7 ± 10.85 years, P = 0.0519). After correction for the five genes examined, both results lose statistical significance. Nevertheless, our results suggest that further investigation in GSTP1 variants and PD pathogenesis is warranted in sporadic PD and that a search for toxins that accelerate PD OA should pay particular attention to GST‐P1 substrates. © 2006 Wiley‐Liss, Inc.</abstract><note type="content">*Please cite this article as follows: Golbe LI, Di Iorio G, Markopoulou K, Athanassiadou A, Papapetropoulos S, Watts RL, Vance JM, Bonifati V, Williams TA, Spychala JR, Stenroos ES, Johnson WG. 2006. Glutathione S‐Transferase Polymorphisms and Onset Age in α‐Synuclein A53T Mutant Parkinson's Disease. Am J Med Genet Part B 144B:254–258.</note><note type="funding">American Parkinson's Disease Association</note><note type="funding">NINDS (NIH) - No. NS43647; </note><note type="funding">William Dow Lovett Endowment of UMDNJ‐Robert Wood Johnson Medical School</note><subject lang="en"><genre>Keywords</genre><topic>PARK‐1</topic><topic>Contursi kindred</topic><topic>detoxification</topic><topic>glutathione</topic><topic>GST‐P1</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><subject><genre>article category</genre><topic>Research Article</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>2007</date><detail type="volume"><caption>vol.</caption><number>144B</number></detail><detail type="issue"><caption>no.</caption><number>2</number></detail><extent unit="pages"><start>254</start><end>258</end><total>5</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">7559785F1F9BEE8BBD39F79F9B183E1122C5FC78</identifier><identifier type="DOI">10.1002/ajmg.b.30450</identifier><identifier type="ArticleID">AJMG30450</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2006 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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