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Baseline genetic associations in the Parkinson's Progression Markers Initiative (PPMI).

Identifieur interne : 000063 ( PubMed/Curation ); précédent : 000062; suivant : 000064

Baseline genetic associations in the Parkinson's Progression Markers Initiative (PPMI).

Auteurs : Mike A. Nalls [États-Unis] ; Margaux F. Keller [États-Unis] ; Dena G. Hernandez [États-Unis] ; Lan Chen [États-Unis] ; David J. Stone [États-Unis] ; Andrew B. Singleton [États-Unis]

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2015.

RBID : pubmed:26268663

Abstract

The Parkinson's Progression Marker Initiative is an international multicenter study whose main goal is investigating markers for Parkinson's disease (PD) progression as part of a path to a treatment for the disease. This manuscript describes the baseline genetic architecture of this study, providing not only a catalog of disease-linked variants and mutations, but also quantitative measures with which to adjust for population structure.

DOI: 10.1002/mds.26374
PubMed: 26268663

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<author><name sortKey="Nalls, Mike A" sort="Nalls, Mike A" uniqKey="Nalls M" first="Mike A" last="Nalls">Mike A. Nalls</name>
<affiliation wicri:level="1"><nlm:affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
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<author><name sortKey="Keller, Margaux F" sort="Keller, Margaux F" uniqKey="Keller M" first="Margaux F" last="Keller">Margaux F. Keller</name>
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<author><name sortKey="Hernandez, Dena G" sort="Hernandez, Dena G" uniqKey="Hernandez D" first="Dena G" last="Hernandez">Dena G. Hernandez</name>
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<author><name sortKey="Chen, Lan" sort="Chen, Lan" uniqKey="Chen L" first="Lan" last="Chen">Lan Chen</name>
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<author><name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B" last="Singleton">Andrew B. Singleton</name>
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<author><name sortKey="Hernandez, Dena G" sort="Hernandez, Dena G" uniqKey="Hernandez D" first="Dena G" last="Hernandez">Dena G. Hernandez</name>
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<author><name sortKey="Chen, Lan" sort="Chen, Lan" uniqKey="Chen L" first="Lan" last="Chen">Lan Chen</name>
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<author><name sortKey="Stone, David J" sort="Stone, David J" uniqKey="Stone D" first="David J" last="Stone">David J. Stone</name>
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<author><name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B" last="Singleton">Andrew B. Singleton</name>
<affiliation wicri:level="1"><nlm:affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<front><div type="abstract" xml:lang="en">The Parkinson's Progression Marker Initiative is an international multicenter study whose main goal is investigating markers for Parkinson's disease (PD) progression as part of a path to a treatment for the disease. This manuscript describes the baseline genetic architecture of this study, providing not only a catalog of disease-linked variants and mutations, but also quantitative measures with which to adjust for population structure.</div>
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<pubmed><MedlineCitation Status="Publisher" Owner="NLM"><PMID Version="1">26268663</PMID>
<DateCreated><Year>2015</Year>
<Month>8</Month>
<Day>13</Day>
</DateCreated>
<DateRevised><Year>2015</Year>
<Month>8</Month>
<Day>14</Day>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
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<ArticleTitle>Baseline genetic associations in the Parkinson's Progression Markers Initiative (PPMI).</ArticleTitle>
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<Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">The Parkinson's Progression Marker Initiative is an international multicenter study whose main goal is investigating markers for Parkinson's disease (PD) progression as part of a path to a treatment for the disease. This manuscript describes the baseline genetic architecture of this study, providing not only a catalog of disease-linked variants and mutations, but also quantitative measures with which to adjust for population structure.</AbstractText>
<AbstractText Label="METHODS" NlmCategory="METHODS">Three hundred eighty-three newly diagnosed typical PD cases, 65 atypical PD and 178 healthy controls, from the Parkinson's Progression Marker Initiative study have been genotyped on the NeuroX or Immunochip arrays. These data are freely available to all researchers interested in pursuing PD research within the Parkinson's Progression Marker Initiative.</AbstractText>
<AbstractText Label="RESULTS" NlmCategory="RESULTS">The Parkinson's Progression Marker Initiative represents a study population with low genetic heterogeneity. We recapitulate known PD associations from large-scale genome-wide association studies and refine genetic risk score models for PD predictability (area under the curve, ∼0.74). We show the presence of six LRRK2 p.G2019S and nine GBA p.N370S mutation carriers.</AbstractText>
<AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">The Parkinson's Progression Marker Initiative study and its genetic data are useful in studies of PD biomarkers. The genetic architecture described here will be useful in the analysis of myriad biological and clinical traits within this study. © 2015 International Parkinson and Movement Disorder Society.</AbstractText>
<CopyrightInformation>© 2015 International Parkinson and Movement Disorder Society.</CopyrightInformation>
</Abstract>
<AuthorList><Author><LastName>Nalls</LastName>
<ForeName>Mike A</ForeName>
<Initials>MA</Initials>
<AffiliationInfo><Affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.</Affiliation>
</AffiliationInfo>
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<Author><LastName>Keller</LastName>
<ForeName>Margaux F</ForeName>
<Initials>MF</Initials>
<AffiliationInfo><Affiliation>Genetics and Pharmacogenomics, Merck Research Laboratories, West Point, Pennsylvania, USA.</Affiliation>
</AffiliationInfo>
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<Author><LastName>Hernandez</LastName>
<ForeName>Dena G</ForeName>
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<AffiliationInfo><Affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author><LastName>Chen</LastName>
<ForeName>Lan</ForeName>
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<AffiliationInfo><Affiliation>Genetics and Pharmacogenomics, Merck Research Laboratories, West Point, Pennsylvania, USA.</Affiliation>
</AffiliationInfo>
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<Author><LastName>Stone</LastName>
<ForeName>David J</ForeName>
<Initials>DJ</Initials>
<AffiliationInfo><Affiliation>Genetics and Pharmacogenomics, Merck Research Laboratories, West Point, Pennsylvania, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author><LastName>Singleton</LastName>
<ForeName>Andrew B</ForeName>
<Initials>AB</Initials>
<AffiliationInfo><Affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author><CollectiveName>Parkinson's Progression Marker Initiative (PPMI) investigators</CollectiveName>
</Author>
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<Language>ENG</Language>
<PublicationTypeList><PublicationType UI="">JOURNAL ARTICLE</PublicationType>
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<ArticleDate DateType="Electronic"><Year>2015</Year>
<Month>8</Month>
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<KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">GWAS</Keyword>
<Keyword MajorTopicYN="N">Parkinson's disease</Keyword>
<Keyword MajorTopicYN="N">genetic risk score</Keyword>
<Keyword MajorTopicYN="N">genetics</Keyword>
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<PubMedPubDate PubStatus="revised"><Year>2015</Year>
<Month>7</Month>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Baseline genetic associations in the Parkinson's Progression Markers Initiative (PPMI).

Baseline genetic associations in the Parkinson's Progression Markers Initiative (PPMI).

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