The PSP‐associated MAPT H1 subhaplotype in Guadeloupean atypical Parkinsonism
Identifieur interne : 000275 ( France/Analysis ); précédent : 000274; suivant : 000276The PSP‐associated MAPT H1 subhaplotype in Guadeloupean atypical Parkinsonism
Auteurs : Agnès Camuzat [France] ; Marc Romana ; Alexandra Dürr [France] ; Josué Feingold [France] ; Alexis Brice [France] ; Merle Ruberg [France] ; Annie Lannuzel [France]Source :
- Movement Disorders [ 0885-3185 ] ; 2008-12-15.
Descripteurs français
- Pascal (Inist)
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, Nervous system diseases, Parkinson disease, Parkinsonian Disorders (complications), Parkinsonian Disorders (genetics), Parkinsonism, Polymorphism, Polymorphism, Single Nucleotide (genetics), Risk factor, Supranuclear Palsy, Progressive (complications), Supranuclear Palsy, Progressive (genetics), atypical parkinsonian syndromes, genetic polymorphism, genetic risk, progressive supranuclear palsy, tau Proteins (classification), tau Proteins (genetics), tauopathy.
- 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. © 2008 Movement Disorder Society
Url:
DOI: 10.1002/mds.22297
Affiliations:
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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="2008-12-15">2008-12-15</date><biblScope unit="vol">23</biblScope><biblScope unit="issue">16</biblScope><biblScope unit="page" from="2384">2384</biblScope><biblScope unit="page" to="2391">2391</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">977337B7AEF3E2B4904C99EFB211D8910E166B28</idno><idno type="DOI">10.1002/mds.22297</idno><idno type="ArticleID">MDS22297</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></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>Nervous system diseases</term><term>Parkinson disease</term><term>Parkinsonian Disorders (complications)</term><term>Parkinsonian Disorders (genetics)</term><term>Parkinsonism</term><term>Polymorphism</term><term>Polymorphism, Single Nucleotide (genetics)</term><term>Risk factor</term><term>Supranuclear Palsy, Progressive (complications)</term><term>Supranuclear Palsy, Progressive (genetics)</term><term>atypical parkinsonian syndromes</term><term>genetic polymorphism</term><term>genetic risk</term><term>progressive supranuclear palsy</term><term>tau Proteins (classification)</term><term>tau Proteins (genetics)</term><term>tauopathy</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><keywords scheme="Pascal" xml:lang="fr"><term>Facteur risque</term><term>Maladie de Parkinson</term><term>Parkinsonisme</term><term>Pathologie du système nerveux</term><term>Polymorphisme</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></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. © 2008 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>France</li></country><settlement><li>Paris</li></settlement></list><tree><noCountry><name sortKey="Romana, Marc" sort="Romana, Marc" uniqKey="Romana M" first="Marc" last="Romana">Marc Romana</name></noCountry><country name="France"><noRegion><name sortKey="Camuzat, Agnes" sort="Camuzat, Agnes" uniqKey="Camuzat A" first="Agnès" last="Camuzat">Agnès Camuzat</name></noRegion><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Camuzat, Agnes" sort="Camuzat, Agnes" uniqKey="Camuzat A" first="Agnès" last="Camuzat">Agnès Camuzat</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</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="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="Lannuzel, Annie" sort="Lannuzel, Annie" uniqKey="Lannuzel A" first="Annie" last="Lannuzel">Annie Lannuzel</name><name sortKey="Ruberg, Merle" sort="Ruberg, Merle" uniqKey="Ruberg M" first="Merle" last="Ruberg">Merle Ruberg</name><name sortKey="Ruberg, Merle" sort="Ruberg, Merle" uniqKey="Ruberg M" first="Merle" last="Ruberg">Merle Ruberg</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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