ParkinsonCanadaV1, Main, Exploration, bibRecord, 002F54

A haplotype at the PARK3 locus influences onset age for Parkinson's disease: The GenePD study

Identifieur interne : 002F54 ( Main/Exploration ); précédent : 002F53; suivant : 002F55

A haplotype at the PARK3 locus influences onset age for Parkinson's disease: The GenePD study

Auteurs : S. Karamohamed [États-Unis] ; A. L. Destefano [États-Unis] ; J. B. Wilk [États-Unis] ; C. M. Shoemaker [États-Unis] ; L. I. Golbe [États-Unis] ; M. H. Mark [États-Unis] ; A. M. Lazzarini [États-Unis] ; O. Suchowersky [Canada] ; N. Labelle [Canada] ; M. Guttman [Canada] ; L. J. Currie [États-Unis] ; G. F. Wooten [États-Unis] ; M. Stacy [États-Unis] ; M. Saint-Hilaire [États-Unis] ; R. G. Feldman [États-Unis] ; K. M. Sullivan [États-Unis] ; G. Xu [États-Unis] ; R. Watts [États-Unis] ; J. Growdon [États-Unis] ; M. Lew [États-Unis] ; C. Waters [États-Unis] ; P. Vieregge [Allemagne] ; P. P. Pramstaller [Italie] ; C. Klein [Allemagne] ; B. A. Racette [États-Unis] ; J. S. Perlmutter [États-Unis] ; A. Parsian [États-Unis] ; C. Singer [États-Unis] ; E. Montgomery [États-Unis] ; K. Baker [États-Unis] ; J. F. Gusella [États-Unis] ; S. J. Fink [États-Unis] ; R. H. Myers [États-Unis] ; A. Herbert [États-Unis]

Source :

Neurology [ 0028-3878 ] ; 2003.

RBID : Pascal:04-0140834

Descripteurs français

Pascal (Inist)
- Parkinson maladie, Age apparition, Phénotype, Génotype, Haplotype, Locus, Déterminisme génétique, Facteur risque, Homme, Gène PARK3.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Age of onset, Genetic determinism, Genotype, Haplotype, Human, Locus, Parkinson disease, Phenotype, Risk factor.

Abstract

Objective: To identify a haplotype influencing onset age for Parkinson's disease (PD) in the PARK3 region on chromosome 2p13. Methods: Single nucleotide polymorphisms (SNP) spanning 2.2 Mb and located in or near potential candidate genes were used to fine map the PARK3 region in 527 patients with familial PD, from 264 families. Results: TT homozygotes for rs1876487 (G/T) had a 7.4-year younger mean age at onset (p = 0.005) compared to patients with GT and GG genotypes. Furthermore, SNP flanking the sepiapterin reductase (7,8-dihydrobiopterin: NADP+ oxidoreductase) (SPR) gene, rs1876487 (p = 0.02) and rs1150500 (p = 0.04), were associated with younger onset age among persons who did not carry the 174 allele of D2S1394. The SPR gene is implicated in dopamine synthesis. Haplotype analysis of three SNP-rs2421095, rs1876487, rs1561244-revealed an association with onset age (p = 0.023) and a haplotype of A-T-G alleles was associated with younger onset for PD (p = 0.005). Conclusions: A haplotype at the PARK3 locus, harboring the SPR gene, is associated with onset age of PD. This may suggest a role for the SPR gene in modifying the age at onset of PD.

Affiliations:

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Le document en format XML

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<orgName type="institution">Université Washington de Saint-Louis</orgName>
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<affiliation wicri:level="1"><inist:fA14 i1="13"><s1>Department of Molecular and Cellular Biology, University of Louisville Health Sciences Center</s1>
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<author><name sortKey="Gusella, J F" sort="Gusella, J F" uniqKey="Gusella J" first="J. F." last="Gusella">J. F. Gusella</name>
<affiliation wicri:level="3"><inist:fA14 i1="16"><s1>Molecular Neurogenetics Unit, Massachusetts General Hospital, Harvard Medical School</s1>
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<author><name sortKey="Fink, S J" sort="Fink, S J" uniqKey="Fink S" first="S. J." last="Fink">S. J. Fink</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Boston University School of Medicine</s1>
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</author>
<author><name sortKey="Myers, R H" sort="Myers, R H" uniqKey="Myers R" first="R. H." last="Myers">R. H. Myers</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Boston University School of Medicine</s1>
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</affiliation>
</author>
<author><name sortKey="Herbert, A" sort="Herbert, A" uniqKey="Herbert A" first="A." last="Herbert">A. Herbert</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Boston University School of Medicine</s1>
<s2>MA</s2>
<s3>USA</s3>
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</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">04-0140834</idno>
<date when="2003">2003</date>
<idno type="stanalyst">PASCAL 04-0140834 INIST</idno>
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<idno type="wicri:Area/Main/Merge">003364</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">A haplotype at the PARK3 locus influences onset age for Parkinson's disease: The GenePD study</title>
<author><name sortKey="Karamohamed, S" sort="Karamohamed, S" uniqKey="Karamohamed S" first="S." last="Karamohamed">S. Karamohamed</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Boston University School of Medicine</s1>
<s2>MA</s2>
<s3>USA</s3>
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</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>MA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Destefano, A L" sort="Destefano, A L" uniqKey="Destefano A" first="A. L." last="Destefano">A. L. Destefano</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Boston University School of Medicine</s1>
<s2>MA</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
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</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>MA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Wilk, J B" sort="Wilk, J B" uniqKey="Wilk J" first="J. B." last="Wilk">J. B. Wilk</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Boston University School of Medicine</s1>
<s2>MA</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
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</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>MA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Shoemaker, C M" sort="Shoemaker, C M" uniqKey="Shoemaker C" first="C. M." last="Shoemaker">C. M. Shoemaker</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Boston University School of Medicine</s1>
<s2>MA</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
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</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>MA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Golbe, L I" sort="Golbe, L I" uniqKey="Golbe L" first="L. I." last="Golbe">L. I. Golbe</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School</s1>
<s2>New Brunswick</s2>
<s3>USA</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
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</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>New Brunswick</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mark, M H" sort="Mark, M H" uniqKey="Mark M" first="M. H." last="Mark">M. H. Mark</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School</s1>
<s2>New Brunswick</s2>
<s3>USA</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
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</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>New Brunswick</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lazzarini, A M" sort="Lazzarini, A M" uniqKey="Lazzarini A" first="A. M." last="Lazzarini">A. M. Lazzarini</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School</s1>
<s2>New Brunswick</s2>
<s3>USA</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
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</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>New Brunswick</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Suchowersky, O" sort="Suchowersky, O" uniqKey="Suchowersky O" first="O." last="Suchowersky">O. Suchowersky</name>
<affiliation wicri:level="4"><inist:fA14 i1="03"><s1>Departments of Clinical Neurosciences and Medical Genetics, University of Calgary</s1>
<s2>Alberta</s2>
<s3>CAN</s3>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<placeName><settlement type="city">Calgary</settlement>
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<orgName type="university">Université de Calgary</orgName>
</affiliation>
</author>
<author><name sortKey="Labelle, N" sort="Labelle, N" uniqKey="Labelle N" first="N." last="Labelle">N. Labelle</name>
<affiliation wicri:level="4"><inist:fA14 i1="03"><s1>Departments of Clinical Neurosciences and Medical Genetics, University of Calgary</s1>
<s2>Alberta</s2>
<s3>CAN</s3>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<placeName><settlement type="city">Calgary</settlement>
<region type="state">Alberta</region>
</placeName>
<orgName type="university">Université de Calgary</orgName>
</affiliation>
</author>
<author><name sortKey="Guttman, M" sort="Guttman, M" uniqKey="Guttman M" first="M." last="Guttman">M. Guttman</name>
<affiliation wicri:level="4"><inist:fA14 i1="04"><s1>Division of Neurology, Department of Medicine, University of Toronto</s1>
<s3>CAN</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
<orgName type="university">Université de Toronto</orgName>
</affiliation>
</author>
<author><name sortKey="Currie, L J" sort="Currie, L J" uniqKey="Currie L" first="L. J." last="Currie">L. J. Currie</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neurology, University of Virginia Health System</s1>
<s2>Charlottesville</s2>
<s3>USA</s3>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Charlottesville</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Wooten, G F" sort="Wooten, G F" uniqKey="Wooten G" first="G. F." last="Wooten">G. F. Wooten</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neurology, University of Virginia Health System</s1>
<s2>Charlottesville</s2>
<s3>USA</s3>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Charlottesville</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Stacy, M" sort="Stacy, M" uniqKey="Stacy M" first="M." last="Stacy">M. Stacy</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Neurology, Barrow Clinic</s1>
<s2>Phoenix, AZ</s2>
<s3>USA</s3>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Phoenix, AZ</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Saint Hilaire, M" sort="Saint Hilaire, M" uniqKey="Saint Hilaire M" first="M." last="Saint-Hilaire">M. Saint-Hilaire</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Boston University School of Medicine</s1>
<s2>MA</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
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</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>MA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Feldman, R G" sort="Feldman, R G" uniqKey="Feldman R" first="R. G." last="Feldman">R. G. Feldman</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Boston University School of Medicine</s1>
<s2>MA</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
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<sZ>34 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>MA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sullivan, K M" sort="Sullivan, K M" uniqKey="Sullivan K" first="K. M." last="Sullivan">K. M. Sullivan</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Boston University School of Medicine</s1>
<s2>MA</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
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</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>MA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Xu, G" sort="Xu, G" uniqKey="Xu G" first="G." last="Xu">G. Xu</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Boston University School of Medicine</s1>
<s2>MA</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
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</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>MA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Watts, R" sort="Watts, R" uniqKey="Watts R" first="R." last="Watts">R. Watts</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Neurology, Emory University</s1>
<s2>Atlanta, GA</s2>
<s3>USA</s3>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Atlanta, GA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Growdon, J" sort="Growdon, J" uniqKey="Growdon J" first="J." last="Growdon">J. Growdon</name>
<affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Department of Neurology, Massachusetts General Hospital, Harvard Medical School</s1>
<s2>Boston</s2>
<s3>USA</s3>
<sZ>19 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Lew, M" sort="Lew, M" uniqKey="Lew M" first="M." last="Lew">M. Lew</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Boston University School of Medicine</s1>
<s2>MA</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
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<sZ>15 aut.</sZ>
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<sZ>20 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
<sZ>34 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>MA</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="09"><s1>Department of Neurology, University of Southern California</s1>
<s2>Los Angeles</s2>
<s3>USA</s3>
<sZ>20 aut.</sZ>
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</inist:fA14>
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<settlement type="city">Los Angeles</settlement>
</placeName>
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</affiliation>
</author>
<author><name sortKey="Waters, C" sort="Waters, C" uniqKey="Waters C" first="C." last="Waters">C. Waters</name>
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<s2>Los Angeles</s2>
<s3>USA</s3>
<sZ>20 aut.</sZ>
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</inist:fA14>
<country>États-Unis</country>
<placeName><settlement type="city">Los Angeles</settlement>
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<settlement type="city">Los Angeles</settlement>
</placeName>
<orgName type="university">Université de Californie du Sud</orgName>
</affiliation>
</author>
<author><name sortKey="Vieregge, P" sort="Vieregge, P" uniqKey="Vieregge P" first="P." last="Vieregge">P. Vieregge</name>
<affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Department of Neurology, Medical University of Lübeck</s1>
<s3>DEU</s3>
<sZ>22 aut.</sZ>
<sZ>24 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>Medical University of Lübeck</wicri:noRegion>
<wicri:noRegion>Department of Neurology, Medical University of Lübeck</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Pramstaller, P P" sort="Pramstaller, P P" uniqKey="Pramstaller P" first="P. P." last="Pramstaller">P. P. Pramstaller</name>
<affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Department of Neurology, General Regional Hospital Bolzano</s1>
<s3>ITA</s3>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Department of Neurology, General Regional Hospital Bolzano</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Klein, C" sort="Klein, C" uniqKey="Klein C" first="C." last="Klein">C. Klein</name>
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<s3>DEU</s3>
<sZ>22 aut.</sZ>
<sZ>24 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>Medical University of Lübeck</wicri:noRegion>
<wicri:noRegion>Department of Neurology, Medical University of Lübeck</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Racette, B A" sort="Racette, B A" uniqKey="Racette B" first="B. A." last="Racette">B. A. Racette</name>
<affiliation wicri:level="4"><inist:fA14 i1="12"><s1>Department of Neurology, Washington University School of Medicine</s1>
<s2>Saint Louis, MO</s2>
<s3>USA</s3>
<sZ>25 aut.</sZ>
<sZ>26 aut.</sZ>
<sZ>27 aut.</sZ>
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<country>États-Unis</country>
<placeName><settlement type="city">Saint-Louis (Missouri)</settlement>
<region type="state">Missouri (État)</region>
</placeName>
<orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName>
<orgName type="institution">Université Washington de Saint-Louis</orgName>
</affiliation>
</author>
<author><name sortKey="Perlmutter, J S" sort="Perlmutter, J S" uniqKey="Perlmutter J" first="J. S." last="Perlmutter">J. S. Perlmutter</name>
<affiliation wicri:level="4"><inist:fA14 i1="12"><s1>Department of Neurology, Washington University School of Medicine</s1>
<s2>Saint Louis, MO</s2>
<s3>USA</s3>
<sZ>25 aut.</sZ>
<sZ>26 aut.</sZ>
<sZ>27 aut.</sZ>
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<country>États-Unis</country>
<placeName><settlement type="city">Saint-Louis (Missouri)</settlement>
<region type="state">Missouri (État)</region>
</placeName>
<orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName>
<orgName type="institution">Université Washington de Saint-Louis</orgName>
</affiliation>
</author>
<author><name sortKey="Parsian, A" sort="Parsian, A" uniqKey="Parsian A" first="A." last="Parsian">A. Parsian</name>
<affiliation wicri:level="4"><inist:fA14 i1="12"><s1>Department of Neurology, Washington University School of Medicine</s1>
<s2>Saint Louis, MO</s2>
<s3>USA</s3>
<sZ>25 aut.</sZ>
<sZ>26 aut.</sZ>
<sZ>27 aut.</sZ>
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<country>États-Unis</country>
<placeName><settlement type="city">Saint-Louis (Missouri)</settlement>
<region type="state">Missouri (État)</region>
</placeName>
<orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName>
<orgName type="institution">Université Washington de Saint-Louis</orgName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="13"><s1>Department of Molecular and Cellular Biology, University of Louisville Health Sciences Center</s1>
<s2>KY</s2>
<s3>USA</s3>
<sZ>27 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>KY</wicri:noRegion>
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<author><name sortKey="Singer, C" sort="Singer, C" uniqKey="Singer C" first="C." last="Singer">C. Singer</name>
<affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Department of Neurology, University of Miami</s1>
<s2>FL</s2>
<s3>USA</s3>
<sZ>28 aut.</sZ>
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<country>États-Unis</country>
<wicri:noRegion>FL</wicri:noRegion>
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</author>
<author><name sortKey="Montgomery, E" sort="Montgomery, E" uniqKey="Montgomery E" first="E." last="Montgomery">E. Montgomery</name>
<affiliation wicri:level="1"><inist:fA14 i1="15"><s1>Departments of Neurology and Neuroscience, Cleveland Clinic Foundation</s1>
<s2>OH</s2>
<s3>USA</s3>
<sZ>29 aut.</sZ>
<sZ>30 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>OH</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Baker, K" sort="Baker, K" uniqKey="Baker K" first="K." last="Baker">K. Baker</name>
<affiliation wicri:level="1"><inist:fA14 i1="15"><s1>Departments of Neurology and Neuroscience, Cleveland Clinic Foundation</s1>
<s2>OH</s2>
<s3>USA</s3>
<sZ>29 aut.</sZ>
<sZ>30 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>OH</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gusella, J F" sort="Gusella, J F" uniqKey="Gusella J" first="J. F." last="Gusella">J. F. Gusella</name>
<affiliation wicri:level="3"><inist:fA14 i1="16"><s1>Molecular Neurogenetics Unit, Massachusetts General Hospital, Harvard Medical School</s1>
<s2>Boston</s2>
<s3>USA</s3>
<sZ>31 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><settlement type="city">Boston</settlement>
<region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Fink, S J" sort="Fink, S J" uniqKey="Fink S" first="S. J." last="Fink">S. J. Fink</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Boston University School of Medicine</s1>
<s2>MA</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
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<sZ>20 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
<sZ>34 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>MA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Myers, R H" sort="Myers, R H" uniqKey="Myers R" first="R. H." last="Myers">R. H. Myers</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Boston University School of Medicine</s1>
<s2>MA</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
<sZ>34 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>MA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Herbert, A" sort="Herbert, A" uniqKey="Herbert A" first="A." last="Herbert">A. Herbert</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Boston University School of Medicine</s1>
<s2>MA</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>14 aut.</sZ>
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<sZ>20 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
<sZ>34 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>MA</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Neurology</title>
<title level="j" type="abbreviated">Neurology</title>
<idno type="ISSN">0028-3878</idno>
<imprint><date when="2003">2003</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Neurology</title>
<title level="j" type="abbreviated">Neurology</title>
<idno type="ISSN">0028-3878</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Age of onset</term>
<term>Genetic determinism</term>
<term>Genotype</term>
<term>Haplotype</term>
<term>Human</term>
<term>Locus</term>
<term>Parkinson disease</term>
<term>Phenotype</term>
<term>Risk factor</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Parkinson maladie</term>
<term>Age apparition</term>
<term>Phénotype</term>
<term>Génotype</term>
<term>Haplotype</term>
<term>Locus</term>
<term>Déterminisme génétique</term>
<term>Facteur risque</term>
<term>Homme</term>
<term>Gène PARK3</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Objective: To identify a haplotype influencing onset age for Parkinson's disease (PD) in the PARK3 region on chromosome 2p13. Methods: Single nucleotide polymorphisms (SNP) spanning 2.2 Mb and located in or near potential candidate genes were used to fine map the PARK3 region in 527 patients with familial PD, from 264 families. Results: TT homozygotes for rs1876487 (G/T) had a 7.4-year younger mean age at onset (p = 0.005) compared to patients with GT and GG genotypes. Furthermore, SNP flanking the sepiapterin reductase (7,8-dihydrobiopterin: NADP+ oxidoreductase) (SPR) gene, rs1876487 (p = 0.02) and rs1150500 (p = 0.04), were associated with younger onset age among persons who did not carry the 174 allele of D2S1394. The SPR gene is implicated in dopamine synthesis. Haplotype analysis of three SNP-rs2421095, rs1876487, rs1561244-revealed an association with onset age (p = 0.023) and a haplotype of A-T-G alleles was associated with younger onset for PD (p = 0.005). Conclusions: A haplotype at the PARK3 locus, harboring the SPR gene, is associated with onset age of PD. This may suggest a role for the SPR gene in modifying the age at onset of PD.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Canada</li>
<li>Italie</li>
<li>États-Unis</li>
</country>
<region><li>Alberta</li>
<li>Californie</li>
<li>Massachusetts</li>
<li>Missouri (État)</li>
<li>Ontario</li>
</region>
<settlement><li>Boston</li>
<li>Calgary</li>
<li>Los Angeles</li>
<li>Saint-Louis (Missouri)</li>
<li>Toronto</li>
</settlement>
<orgName><li>Université Washington de Saint-Louis</li>
<li>Université de Calgary</li>
<li>Université de Californie du Sud</li>
<li>Université de Toronto</li>
<li>École de médecine (Université Washington de Saint-Louis)</li>
</orgName>
</list>
<tree><country name="États-Unis"><noRegion><name sortKey="Karamohamed, S" sort="Karamohamed, S" uniqKey="Karamohamed S" first="S." last="Karamohamed">S. Karamohamed</name>
</noRegion>
<name sortKey="Baker, K" sort="Baker, K" uniqKey="Baker K" first="K." last="Baker">K. Baker</name>
<name sortKey="Currie, L J" sort="Currie, L J" uniqKey="Currie L" first="L. J." last="Currie">L. J. Currie</name>
<name sortKey="Destefano, A L" sort="Destefano, A L" uniqKey="Destefano A" first="A. L." last="Destefano">A. L. Destefano</name>
<name sortKey="Feldman, R G" sort="Feldman, R G" uniqKey="Feldman R" first="R. G." last="Feldman">R. G. Feldman</name>
<name sortKey="Fink, S J" sort="Fink, S J" uniqKey="Fink S" first="S. J." last="Fink">S. J. Fink</name>
<name sortKey="Golbe, L I" sort="Golbe, L I" uniqKey="Golbe L" first="L. I." last="Golbe">L. I. Golbe</name>
<name sortKey="Growdon, J" sort="Growdon, J" uniqKey="Growdon J" first="J." last="Growdon">J. Growdon</name>
<name sortKey="Gusella, J F" sort="Gusella, J F" uniqKey="Gusella J" first="J. F." last="Gusella">J. F. Gusella</name>
<name sortKey="Herbert, A" sort="Herbert, A" uniqKey="Herbert A" first="A." last="Herbert">A. Herbert</name>
<name sortKey="Lazzarini, A M" sort="Lazzarini, A M" uniqKey="Lazzarini A" first="A. M." last="Lazzarini">A. M. Lazzarini</name>
<name sortKey="Lew, M" sort="Lew, M" uniqKey="Lew M" first="M." last="Lew">M. Lew</name>
<name sortKey="Lew, M" sort="Lew, M" uniqKey="Lew M" first="M." last="Lew">M. Lew</name>
<name sortKey="Mark, M H" sort="Mark, M H" uniqKey="Mark M" first="M. H." last="Mark">M. H. Mark</name>
<name sortKey="Montgomery, E" sort="Montgomery, E" uniqKey="Montgomery E" first="E." last="Montgomery">E. Montgomery</name>
<name sortKey="Myers, R H" sort="Myers, R H" uniqKey="Myers R" first="R. H." last="Myers">R. H. Myers</name>
<name sortKey="Parsian, A" sort="Parsian, A" uniqKey="Parsian A" first="A." last="Parsian">A. Parsian</name>
<name sortKey="Parsian, A" sort="Parsian, A" uniqKey="Parsian A" first="A." last="Parsian">A. Parsian</name>
<name sortKey="Perlmutter, J S" sort="Perlmutter, J S" uniqKey="Perlmutter J" first="J. S." last="Perlmutter">J. S. Perlmutter</name>
<name sortKey="Racette, B A" sort="Racette, B A" uniqKey="Racette B" first="B. A." last="Racette">B. A. Racette</name>
<name sortKey="Saint Hilaire, M" sort="Saint Hilaire, M" uniqKey="Saint Hilaire M" first="M." last="Saint-Hilaire">M. Saint-Hilaire</name>
<name sortKey="Shoemaker, C M" sort="Shoemaker, C M" uniqKey="Shoemaker C" first="C. M." last="Shoemaker">C. M. Shoemaker</name>
<name sortKey="Singer, C" sort="Singer, C" uniqKey="Singer C" first="C." last="Singer">C. Singer</name>
<name sortKey="Stacy, M" sort="Stacy, M" uniqKey="Stacy M" first="M." last="Stacy">M. Stacy</name>
<name sortKey="Sullivan, K M" sort="Sullivan, K M" uniqKey="Sullivan K" first="K. M." last="Sullivan">K. M. Sullivan</name>
<name sortKey="Waters, C" sort="Waters, C" uniqKey="Waters C" first="C." last="Waters">C. Waters</name>
<name sortKey="Watts, R" sort="Watts, R" uniqKey="Watts R" first="R." last="Watts">R. Watts</name>
<name sortKey="Wilk, J B" sort="Wilk, J B" uniqKey="Wilk J" first="J. B." last="Wilk">J. B. Wilk</name>
<name sortKey="Wooten, G F" sort="Wooten, G F" uniqKey="Wooten G" first="G. F." last="Wooten">G. F. Wooten</name>
<name sortKey="Xu, G" sort="Xu, G" uniqKey="Xu G" first="G." last="Xu">G. Xu</name>
</country>
<country name="Canada"><region name="Alberta"><name sortKey="Suchowersky, O" sort="Suchowersky, O" uniqKey="Suchowersky O" first="O." last="Suchowersky">O. Suchowersky</name>
</region>
<name sortKey="Guttman, M" sort="Guttman, M" uniqKey="Guttman M" first="M." last="Guttman">M. Guttman</name>
<name sortKey="Labelle, N" sort="Labelle, N" uniqKey="Labelle N" first="N." last="Labelle">N. Labelle</name>
</country>
<country name="Allemagne"><noRegion><name sortKey="Vieregge, P" sort="Vieregge, P" uniqKey="Vieregge P" first="P." last="Vieregge">P. Vieregge</name>
</noRegion>
<name sortKey="Klein, C" sort="Klein, C" uniqKey="Klein C" first="C." last="Klein">C. Klein</name>
</country>
<country name="Italie"><noRegion><name sortKey="Pramstaller, P P" sort="Pramstaller, P P" uniqKey="Pramstaller P" first="P. P." last="Pramstaller">P. P. Pramstaller</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>

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	La maladie de Parkinson au Canada (serveur d'exploration)
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La maladie de Parkinson au Canada (serveur d'exploration)

A haplotype at the PARK3 locus influences onset age for Parkinson's disease: The GenePD study

A haplotype at the PARK3 locus influences onset age for Parkinson's disease: The GenePD study

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