Association analysis of MAPT H1 haplotype and subhaplotypes in Parkinson's disease
Identifieur interne : 001111 ( Main/Exploration ); précédent : 001110; suivant : 001112Association analysis of MAPT H1 haplotype and subhaplotypes in Parkinson's disease
Auteurs : Cyrus P. Zabetian [États-Unis] ; Carolyn M. Hutter [États-Unis] ; Stewart A. Factor [États-Unis] ; John G. Nutt [États-Unis] ; Donald S. Higgins [États-Unis] ; Alida Griffith [États-Unis] ; John W. Roberts [États-Unis] ; Berta C. Leis [États-Unis] ; Denise M. Kay [États-Unis] ; Dora Yearout [États-Unis] ; Jennifer S. Montimurro [États-Unis] ; Karen L. Edwards [États-Unis] ; Ali Samii [États-Unis] ; Haydeh Payami [États-Unis]Source :
- Annals of Neurology [ 0364-5134 ] ; 2007-08.
Abstract
Objective: An inversion polymorphism of approximately 900kb on chromosome 17q21, which includes the microtubule‐associated protein tau (MAPT) gene defines two haplotype clades, H1 and H2. Several small case–control studies have observed a marginally significant excess of the H1/H1 diplotype among patients with Parkinson's disease (PD), and one reported refining the association to a region spanning exons 1 to 4 of MAPT. We sought to replicate these findings. Methods: We genotyped 1,762 PD patients and 2,010 control subjects for a single nucleotide polymorphism (SNP) that differentiates the H1 and H2 clades. We also analyzed four SNPs that define subhaplotypes within H1 previously reported to associate with PD or other neurodegenerative disorders. Results: After adjusting for age, sex, and site, we observed a robust association between the H1/H1 diplotype and PD risk (odds ratio for H1/H1 vs H1/H2 and H2/H2, 1.46; 95% confidence interval, 1.25–1.69; p = 8 × 10−7). The effect was evident in both familial and sporadic subgroups, men and women, and early‐ and late‐onset disease. Within H1/H1 individuals, there was no significant difference between cases and control subjects in the overall frequency distribution of H1 subhaplotypes. Interpretation: Our data provide strong evidence that the H1 clade, which contains MAPT and several other genes, is a risk factor for PD. However, attributing this finding to variants within a specific region of MAPT is premature. Thorough fine‐mapping of the H1 clade in large numbers of individuals is now needed to identify the underlying functional variant(s) that alter susceptibility for PD. Ann Neurol 2007
Url:
DOI: 10.1002/ana.21157
Affiliations:
Links toward previous steps (curation, corpus...)
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Association analysis of MAPT H1 haplotype and subhaplotypes in Parkinson's disease</title><author><name sortKey="Zabetian, Cyrus P" sort="Zabetian, Cyrus P" uniqKey="Zabetian C" first="Cyrus P." last="Zabetian">Cyrus P. Zabetian</name></author><author><name sortKey="Hutter, Carolyn M" sort="Hutter, Carolyn M" uniqKey="Hutter C" first="Carolyn M." last="Hutter">Carolyn M. Hutter</name></author><author><name sortKey="Factor, Stewart A" sort="Factor, Stewart A" uniqKey="Factor S" first="Stewart A." last="Factor">Stewart A. Factor</name></author><author><name sortKey="Nutt, John G" sort="Nutt, John G" uniqKey="Nutt J" first="John G." last="Nutt">John G. Nutt</name></author><author><name sortKey="Higgins, Donald S" sort="Higgins, Donald S" uniqKey="Higgins D" first="Donald S." last="Higgins">Donald S. Higgins</name></author><author><name sortKey="Griffith, Alida" sort="Griffith, Alida" uniqKey="Griffith A" first="Alida" last="Griffith">Alida Griffith</name></author><author><name sortKey="Roberts, John W" sort="Roberts, John W" uniqKey="Roberts J" first="John W." last="Roberts">John W. Roberts</name></author><author><name sortKey="Leis, Berta C" sort="Leis, Berta C" uniqKey="Leis B" first="Berta C." last="Leis">Berta C. Leis</name></author><author><name sortKey="Kay, Denise M" sort="Kay, Denise M" uniqKey="Kay D" first="Denise M." last="Kay">Denise M. Kay</name></author><author><name sortKey="Yearout, Dora" sort="Yearout, Dora" uniqKey="Yearout D" first="Dora" last="Yearout">Dora Yearout</name></author><author><name sortKey="Montimurro, Jennifer S" sort="Montimurro, Jennifer S" uniqKey="Montimurro J" first="Jennifer S." last="Montimurro">Jennifer S. Montimurro</name></author><author><name sortKey="Edwards, Karen L" sort="Edwards, Karen L" uniqKey="Edwards K" first="Karen L." last="Edwards">Karen L. Edwards</name></author><author><name sortKey="Samii, Ali" sort="Samii, Ali" uniqKey="Samii A" first="Ali" last="Samii">Ali Samii</name></author><author><name sortKey="Payami, Haydeh" sort="Payami, Haydeh" uniqKey="Payami H" first="Haydeh" last="Payami">Haydeh Payami</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:628B0AEC8BBF33DEC594591A957764CA7BA89847</idno><date when="2007" year="2007">2007</date><idno type="doi">10.1002/ana.21157</idno><idno type="url">https://api.istex.fr/document/628B0AEC8BBF33DEC594591A957764CA7BA89847/fulltext/pdf</idno><idno type="wicri:Area/Main/Corpus">001E87</idno><idno type="wicri:Area/Main/Curation">001B97</idno><idno type="wicri:Area/Main/Exploration">001111</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Association analysis of MAPT H1 haplotype and subhaplotypes in Parkinson's disease</title><author><name sortKey="Zabetian, Cyrus P" sort="Zabetian, Cyrus P" uniqKey="Zabetian C" first="Cyrus P." last="Zabetian">Cyrus P. Zabetian</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Washington (État)</region></placeName><wicri:cityArea>Geriatric Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle</wicri:cityArea></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Washington (État)</region></placeName><wicri:cityArea>Department of Neurology, University of Washington School of Medicine, Seattle</wicri:cityArea></affiliation></author><author><name sortKey="Hutter, Carolyn M" sort="Hutter, Carolyn M" uniqKey="Hutter C" first="Carolyn M." last="Hutter">Carolyn M. Hutter</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Washington (État)</region></placeName><wicri:cityArea>Department of Epidemiology, University of Washington School of Public Health and Community Medicine, Seattle</wicri:cityArea></affiliation></author><author><name sortKey="Factor, Stewart A" sort="Factor, Stewart A" uniqKey="Factor S" first="Stewart A." last="Factor">Stewart A. Factor</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Géorgie (États-Unis)</region></placeName><wicri:cityArea>Department of Neurology, Emory University School of Medicine, Atlanta</wicri:cityArea></affiliation></author><author><name sortKey="Nutt, John G" sort="Nutt, John G" uniqKey="Nutt J" first="John G." last="Nutt">John G. Nutt</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Oregon</region></placeName><wicri:cityArea>Department of Neurology, Oregon Health and Science University, Portland</wicri:cityArea></affiliation></author><author><name sortKey="Higgins, Donald S" sort="Higgins, Donald S" uniqKey="Higgins D" first="Donald S." last="Higgins">Donald S. Higgins</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Parkinson's Disease and Movement Disorder Clinic, Albany Medical Center, Albany</wicri:cityArea></affiliation></author><author><name sortKey="Griffith, Alida" sort="Griffith, Alida" uniqKey="Griffith A" first="Alida" last="Griffith">Alida Griffith</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Washington (État)</region></placeName><wicri:cityArea>Booth Gardner Parkinson's Care Center, Evergreen Hospital Medical Center, Kirkland</wicri:cityArea></affiliation></author><author><name sortKey="Roberts, John W" sort="Roberts, John W" uniqKey="Roberts J" first="John W." last="Roberts">John W. Roberts</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Washington (État)</region></placeName><wicri:cityArea>Virginia Mason Medical Center, Seattle</wicri:cityArea></affiliation></author><author><name sortKey="Leis, Berta C" sort="Leis, Berta C" uniqKey="Leis B" first="Berta C." last="Leis">Berta C. Leis</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Washington (État)</region></placeName><wicri:cityArea>Booth Gardner Parkinson's Care Center, Evergreen Hospital Medical Center, Kirkland</wicri:cityArea></affiliation></author><author><name sortKey="Kay, Denise M" sort="Kay, Denise M" uniqKey="Kay D" first="Denise M." last="Kay">Denise M. Kay</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Genomics Institute, Wadsworth Center, New York State Department of Health, Albany</wicri:cityArea></affiliation></author><author><name sortKey="Yearout, Dora" sort="Yearout, Dora" uniqKey="Yearout D" first="Dora" last="Yearout">Dora Yearout</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Washington (État)</region></placeName><wicri:cityArea>Geriatric Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle</wicri:cityArea></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Washington (État)</region></placeName><wicri:cityArea>Department of Neurology, University of Washington School of Medicine, Seattle</wicri:cityArea></affiliation></author><author><name sortKey="Montimurro, Jennifer S" sort="Montimurro, Jennifer S" uniqKey="Montimurro J" first="Jennifer S." last="Montimurro">Jennifer S. Montimurro</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Genomics Institute, Wadsworth Center, New York State Department of Health, Albany</wicri:cityArea></affiliation></author><author><name sortKey="Edwards, Karen L" sort="Edwards, Karen L" uniqKey="Edwards K" first="Karen L." last="Edwards">Karen L. Edwards</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Washington (État)</region></placeName><wicri:cityArea>Department of Epidemiology, University of Washington School of Public Health and Community Medicine, Seattle</wicri:cityArea></affiliation></author><author><name sortKey="Samii, Ali" sort="Samii, Ali" uniqKey="Samii A" first="Ali" last="Samii">Ali Samii</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Washington (État)</region></placeName><wicri:cityArea>Department of Neurology, University of Washington School of Medicine, Seattle</wicri:cityArea></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Washington (État)</region></placeName><wicri:cityArea>Parkinson's Disease Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle</wicri:cityArea></affiliation></author><author><name sortKey="Payami, Haydeh" sort="Payami, Haydeh" uniqKey="Payami H" first="Haydeh" last="Payami">Haydeh Payami</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Genomics Institute, Wadsworth Center, New York State Department of Health, Albany</wicri:cityArea></affiliation></author></analytic><monogr></monogr><series><title level="j">Annals of Neurology</title><title level="j" type="abbrev">Ann Neurol.</title><idno type="ISSN">0364-5134</idno><idno type="eISSN">1531-8249</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-08">2007-08</date><biblScope unit="volume">62</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="137">137</biblScope><biblScope unit="page" to="144">144</biblScope></imprint><idno type="ISSN">0364-5134</idno></series><idno type="istex">628B0AEC8BBF33DEC594591A957764CA7BA89847</idno><idno type="DOI">10.1002/ana.21157</idno><idno type="ArticleID">ANA21157</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0364-5134</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Objective: An inversion polymorphism of approximately 900kb on chromosome 17q21, which includes the microtubule‐associated protein tau (MAPT) gene defines two haplotype clades, H1 and H2. Several small case–control studies have observed a marginally significant excess of the H1/H1 diplotype among patients with Parkinson's disease (PD), and one reported refining the association to a region spanning exons 1 to 4 of MAPT. We sought to replicate these findings. Methods: We genotyped 1,762 PD patients and 2,010 control subjects for a single nucleotide polymorphism (SNP) that differentiates the H1 and H2 clades. We also analyzed four SNPs that define subhaplotypes within H1 previously reported to associate with PD or other neurodegenerative disorders. Results: After adjusting for age, sex, and site, we observed a robust association between the H1/H1 diplotype and PD risk (odds ratio for H1/H1 vs H1/H2 and H2/H2, 1.46; 95% confidence interval, 1.25–1.69; p = 8 × 10−7). The effect was evident in both familial and sporadic subgroups, men and women, and early‐ and late‐onset disease. Within H1/H1 individuals, there was no significant difference between cases and control subjects in the overall frequency distribution of H1 subhaplotypes. Interpretation: Our data provide strong evidence that the H1 clade, which contains MAPT and several other genes, is a risk factor for PD. However, attributing this finding to variants within a specific region of MAPT is premature. Thorough fine‐mapping of the H1 clade in large numbers of individuals is now needed to identify the underlying functional variant(s) that alter susceptibility for PD. Ann Neurol 2007</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Géorgie (États-Unis)</li><li>Oregon</li><li>Washington (État)</li><li>État de New York</li></region></list><tree><country name="États-Unis"><region name="Washington (État)"><name sortKey="Zabetian, Cyrus P" sort="Zabetian, Cyrus P" uniqKey="Zabetian C" first="Cyrus P." last="Zabetian">Cyrus P. Zabetian</name></region><name sortKey="Edwards, Karen L" sort="Edwards, Karen L" uniqKey="Edwards K" first="Karen L." last="Edwards">Karen L. Edwards</name><name sortKey="Factor, Stewart A" sort="Factor, Stewart A" uniqKey="Factor S" first="Stewart A." last="Factor">Stewart A. Factor</name><name sortKey="Griffith, Alida" sort="Griffith, Alida" uniqKey="Griffith A" first="Alida" last="Griffith">Alida Griffith</name><name sortKey="Higgins, Donald S" sort="Higgins, Donald S" uniqKey="Higgins D" first="Donald S." last="Higgins">Donald S. Higgins</name><name sortKey="Hutter, Carolyn M" sort="Hutter, Carolyn M" uniqKey="Hutter C" first="Carolyn M." last="Hutter">Carolyn M. Hutter</name><name sortKey="Kay, Denise M" sort="Kay, Denise M" uniqKey="Kay D" first="Denise M." last="Kay">Denise M. Kay</name><name sortKey="Leis, Berta C" sort="Leis, Berta C" uniqKey="Leis B" first="Berta C." last="Leis">Berta C. Leis</name><name sortKey="Montimurro, Jennifer S" sort="Montimurro, Jennifer S" uniqKey="Montimurro J" first="Jennifer S." last="Montimurro">Jennifer S. Montimurro</name><name sortKey="Nutt, John G" sort="Nutt, John G" uniqKey="Nutt J" first="John G." last="Nutt">John G. Nutt</name><name sortKey="Payami, Haydeh" sort="Payami, Haydeh" uniqKey="Payami H" first="Haydeh" last="Payami">Haydeh Payami</name><name sortKey="Roberts, John W" sort="Roberts, John W" uniqKey="Roberts J" first="John W." last="Roberts">John W. Roberts</name><name sortKey="Samii, Ali" sort="Samii, Ali" uniqKey="Samii A" first="Ali" last="Samii">Ali Samii</name><name sortKey="Samii, Ali" sort="Samii, Ali" uniqKey="Samii A" first="Ali" last="Samii">Ali Samii</name><name sortKey="Yearout, Dora" sort="Yearout, Dora" uniqKey="Yearout D" first="Dora" last="Yearout">Dora Yearout</name><name sortKey="Yearout, Dora" sort="Yearout, Dora" uniqKey="Yearout D" first="Dora" last="Yearout">Dora Yearout</name><name sortKey="Zabetian, Cyrus P" sort="Zabetian, Cyrus P" uniqKey="Zabetian C" first="Cyrus P." last="Zabetian">Cyrus P. Zabetian</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/ParkinsonV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001111 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 001111 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= ParkinsonV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= ISTEX:628B0AEC8BBF33DEC594591A957764CA7BA89847
|texte= Association analysis of MAPT H1 haplotype and subhaplotypes in Parkinson's disease
}}
| This area was generated with Dilib version V0.6.23. |  |