The PSP-associated MAPT H1 subhaplotype in Guadeloupean atypical parkinsonism.
Identifieur interne : 002054 ( PubMed/Checkpoint ); précédent : 002053; suivant : 002055The PSP-associated MAPT H1 subhaplotype in Guadeloupean atypical parkinsonism.
Auteurs : Agnès Camuzat [France] ; Marc Romana ; Alexandra Dürr ; Josué Feingold ; Alexis Brice ; Merle Ruberg ; Annie LannuzelSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.
English descriptors
- KwdEn :
- Aged, Case-Control Studies, Chi-Square Distribution, European Continental Ancestry Group, Female, Gene Frequency, Genotype, Guadeloupe (epidemiology), Humans, Linkage Disequilibrium, Male, Middle Aged, Parkinsonian Disorders (complications), Parkinsonian Disorders (genetics), Polymorphism, Single Nucleotide (genetics), Supranuclear Palsy, Progressive (complications), Supranuclear Palsy, Progressive (genetics), tau Proteins (classification), tau Proteins (genetics).
- MESH :
- chemical , classification : tau Proteins.
- geographic , epidemiology : Guadeloupe.
- complications : Parkinsonian Disorders, Supranuclear Palsy, Progressive.
- genetics : Parkinsonian Disorders, Polymorphism, Single Nucleotide, Supranuclear Palsy, Progressive, tau Proteins.
- Aged, Case-Control Studies, Chi-Square Distribution, European Continental Ancestry Group, Female, Gene Frequency, Genotype, Humans, Linkage Disequilibrium, Male, Middle Aged.
Abstract
The aim of this study was to determine whether the H1 subhaplotype in MAPT associated with progressive supranuclear palsy (PSP) in Caucasians confers risk for PSP-like atypical parkinsonism in Guadeloupe, a tauopathy. Guadeloupean controls and patients with atypical and idiopathic parkinsonism and ethnically and age-matched controls were genotyped for H1 and H2 alleles, then for the H1 subhaplotype associated with PSP in Caucasians, using previously described haplotype-tagging single nucleotide polymorphisms (Ht-SNPs) in linkage disequilibrium at the MAPT locus. Most Guadeloupean controls and patients were homozygous for the H1 allele; only 5% were heterozygous for the H2 allele, consistent with the European contribution to the racial admixture in Guadeloupe, but equivalent to the frequency found in Caucasian PSP patients. The frequencies of the Ht-SNPs used to determine the PSP-associated H1 subhaplotype in both Guadeloupean controls and parkinsonians were similar, indicating that the H1 subhaplotype associated with PSP in Caucasians was not a risk factor for PSP-like atypical parkinsonism in Guadeloupe. Interestingly, they were also similar to the frequencies in Caucasian PSP patients. The major H1 subhaplotype in Guadeloupe, determined by analysis of linkage desequibrium, differed from the major Caucasian subhaplotype, but corresponded to minor alleles previously described.
DOI: 10.1002/mds.22297
PubMed: 18785640
Affiliations:
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">The PSP-associated MAPT H1 subhaplotype in Guadeloupean atypical parkinsonism.</title><author><name sortKey="Camuzat, Agnes" sort="Camuzat, Agnes" uniqKey="Camuzat A" first="Agnès" last="Camuzat">Agnès Camuzat</name><affiliation wicri:level="1"><nlm:affiliation>INSERM, UMR_S 679, Neurology and Experimental Therapeutics, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, UMR_S 679, Neurology and Experimental Therapeutics, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Romana, Marc" sort="Romana, Marc" uniqKey="Romana M" first="Marc" last="Romana">Marc Romana</name></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name></author><author><name sortKey="Feingold, Josue" sort="Feingold, Josue" uniqKey="Feingold J" first="Josué" last="Feingold">Josué Feingold</name></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></author><author><name sortKey="Ruberg, Merle" sort="Ruberg, Merle" uniqKey="Ruberg M" first="Merle" last="Ruberg">Merle Ruberg</name></author><author><name sortKey="Lannuzel, Annie" sort="Lannuzel, Annie" uniqKey="Lannuzel A" first="Annie" last="Lannuzel">Annie Lannuzel</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2008">2008</date><idno type="doi">10.1002/mds.22297</idno><idno type="RBID">pubmed:18785640</idno><idno type="pmid">18785640</idno><idno type="wicri:Area/PubMed/Corpus">002028</idno><idno type="wicri:Area/PubMed/Curation">002028</idno><idno type="wicri:Area/PubMed/Checkpoint">002054</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">The PSP-associated MAPT H1 subhaplotype in Guadeloupean atypical parkinsonism.</title><author><name sortKey="Camuzat, Agnes" sort="Camuzat, Agnes" uniqKey="Camuzat A" first="Agnès" last="Camuzat">Agnès Camuzat</name><affiliation wicri:level="1"><nlm:affiliation>INSERM, UMR_S 679, Neurology and Experimental Therapeutics, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, UMR_S 679, Neurology and Experimental Therapeutics, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Romana, Marc" sort="Romana, Marc" uniqKey="Romana M" first="Marc" last="Romana">Marc Romana</name></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name></author><author><name sortKey="Feingold, Josue" sort="Feingold, Josue" uniqKey="Feingold J" first="Josué" last="Feingold">Josué Feingold</name></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></author><author><name sortKey="Ruberg, Merle" sort="Ruberg, Merle" uniqKey="Ruberg M" first="Merle" last="Ruberg">Merle Ruberg</name></author><author><name sortKey="Lannuzel, Annie" sort="Lannuzel, Annie" uniqKey="Lannuzel A" first="Annie" last="Lannuzel">Annie Lannuzel</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2008" type="published">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Case-Control Studies</term><term>Chi-Square Distribution</term><term>European Continental Ancestry Group</term><term>Female</term><term>Gene Frequency</term><term>Genotype</term><term>Guadeloupe (epidemiology)</term><term>Humans</term><term>Linkage Disequilibrium</term><term>Male</term><term>Middle Aged</term><term>Parkinsonian Disorders (complications)</term><term>Parkinsonian Disorders (genetics)</term><term>Polymorphism, Single Nucleotide (genetics)</term><term>Supranuclear Palsy, Progressive (complications)</term><term>Supranuclear Palsy, Progressive (genetics)</term><term>tau Proteins (classification)</term><term>tau Proteins (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="classification" xml:lang="en"><term>tau Proteins</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Guadeloupe</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Parkinsonian Disorders</term><term>Supranuclear Palsy, Progressive</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinsonian Disorders</term><term>Polymorphism, Single Nucleotide</term><term>Supranuclear Palsy, Progressive</term><term>tau Proteins</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Case-Control Studies</term><term>Chi-Square Distribution</term><term>European Continental Ancestry Group</term><term>Female</term><term>Gene Frequency</term><term>Genotype</term><term>Humans</term><term>Linkage Disequilibrium</term><term>Male</term><term>Middle Aged</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The aim of this study was to determine whether the H1 subhaplotype in MAPT associated with progressive supranuclear palsy (PSP) in Caucasians confers risk for PSP-like atypical parkinsonism in Guadeloupe, a tauopathy. Guadeloupean controls and patients with atypical and idiopathic parkinsonism and ethnically and age-matched controls were genotyped for H1 and H2 alleles, then for the H1 subhaplotype associated with PSP in Caucasians, using previously described haplotype-tagging single nucleotide polymorphisms (Ht-SNPs) in linkage disequilibrium at the MAPT locus. Most Guadeloupean controls and patients were homozygous for the H1 allele; only 5% were heterozygous for the H2 allele, consistent with the European contribution to the racial admixture in Guadeloupe, but equivalent to the frequency found in Caucasian PSP patients. The frequencies of the Ht-SNPs used to determine the PSP-associated H1 subhaplotype in both Guadeloupean controls and parkinsonians were similar, indicating that the H1 subhaplotype associated with PSP in Caucasians was not a risk factor for PSP-like atypical parkinsonism in Guadeloupe. Interestingly, they were also similar to the frequencies in Caucasian PSP patients. The major H1 subhaplotype in Guadeloupe, determined by analysis of linkage desequibrium, differed from the major Caucasian subhaplotype, but corresponded to minor alleles previously described.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">18785640</PMID><DateCreated><Year>2008</Year><Month>12</Month><Day>29</Day></DateCreated><DateCompleted><Year>2009</Year><Month>04</Month><Day>08</Day></DateCompleted><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>23</Volume><Issue>16</Issue><PubDate><Year>2008</Year><Month>Dec</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>The PSP-associated MAPT H1 subhaplotype in Guadeloupean atypical parkinsonism.</ArticleTitle><Pagination><MedlinePgn>2384-91</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.22297</ELocationID><Abstract><AbstractText>The aim of this study was to determine whether the H1 subhaplotype in MAPT associated with progressive supranuclear palsy (PSP) in Caucasians confers risk for PSP-like atypical parkinsonism in Guadeloupe, a tauopathy. Guadeloupean controls and patients with atypical and idiopathic parkinsonism and ethnically and age-matched controls were genotyped for H1 and H2 alleles, then for the H1 subhaplotype associated with PSP in Caucasians, using previously described haplotype-tagging single nucleotide polymorphisms (Ht-SNPs) in linkage disequilibrium at the MAPT locus. Most Guadeloupean controls and patients were homozygous for the H1 allele; only 5% were heterozygous for the H2 allele, consistent with the European contribution to the racial admixture in Guadeloupe, but equivalent to the frequency found in Caucasian PSP patients. The frequencies of the Ht-SNPs used to determine the PSP-associated H1 subhaplotype in both Guadeloupean controls and parkinsonians were similar, indicating that the H1 subhaplotype associated with PSP in Caucasians was not a risk factor for PSP-like atypical parkinsonism in Guadeloupe. Interestingly, they were also similar to the frequencies in Caucasian PSP patients. The major H1 subhaplotype in Guadeloupe, determined by analysis of linkage desequibrium, differed from the major Caucasian subhaplotype, but corresponded to minor alleles previously described.</AbstractText><CopyrightInformation>(c) 2008 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Camuzat</LastName><ForeName>Agnès</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>INSERM, UMR_S 679, Neurology and Experimental Therapeutics, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Romana</LastName><ForeName>Marc</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Dürr</LastName><ForeName>Alexandra</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Feingold</LastName><ForeName>Josué</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Brice</LastName><ForeName>Alexis</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Ruberg</LastName><ForeName>Merle</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Lannuzel</LastName><ForeName>Annie</ForeName><Initials>A</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C054369">MAPT protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D016875">tau Proteins</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" 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UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D015810">Linkage Disequilibrium</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020734">Parkinsonian Disorders</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000150">complications</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020641">Polymorphism, Single Nucleotide</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D013494">Supranuclear Palsy, Progressive</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000150">complications</QualifierName><QualifierName 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IdType="pubmed">18785640</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>France</li></country><settlement><li>Paris</li></settlement></list><tree><noCountry><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><name sortKey="Feingold, Josue" sort="Feingold, Josue" uniqKey="Feingold J" first="Josué" last="Feingold">Josué Feingold</name><name sortKey="Lannuzel, Annie" sort="Lannuzel, Annie" uniqKey="Lannuzel A" first="Annie" last="Lannuzel">Annie Lannuzel</name><name sortKey="Romana, Marc" sort="Romana, Marc" uniqKey="Romana M" first="Marc" last="Romana">Marc Romana</name><name sortKey="Ruberg, Merle" sort="Ruberg, Merle" uniqKey="Ruberg M" first="Merle" last="Ruberg">Merle Ruberg</name></noCountry><country name="France"><noRegion><name sortKey="Camuzat, Agnes" 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