The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson’s disease in European populations
Identifieur interne : 001180 ( Main/Exploration ); précédent : 001179; suivant : 001181The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson’s disease in European populations
Auteurs : M. Sharma [Allemagne] ; J C Mueller [Allemagne] ; A. Zimprich [Autriche] ; P. Lichtner [Allemagne] ; A. Hofer [Allemagne] ; P. Leitner [Allemagne] ; S. Maass [Allemagne] ; D. Berg [Allemagne] ; A. Dürr [France] ; V. Bonifati [Italie] ; G. De Michele [Pays-Bas] ; B. Oostra [Italie] ; A. Brice [France] ; N W Wood [Royaume-Uni] ; B. Muller-Myhsok [Allemagne] ; T. Gasser [Allemagne]Source :
- Journal of Medical Genetics [ 0022-2593 ] ; 2006-07.
English descriptors
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Abstract
Background: Parkinson’s disease is a genetically complex disease with mixed mode of inheritance. Recently, a haplotype across the sepiapterin reductase (SPR) gene, which is located in the PARK3 linkage region, was shown to modulate age of onset of Parkinson’s disease in sibships from North America. Objective: To make a thorough assessment of the SPR gene region in sporadic Parkinson’s disease. Methods: A linkage study in 122 European sibship families with five microsatellite and 17 single nucleotide polymorphism (SNP) markers in and around the SPR gene region, and an association analysis in 340 sporadic cases of Parkinson’s disease and 680 control subjects from Germany with 40 SNPs. Linkage was evaluated by non-parametric linkage scores and genotypic or haplotype association was tested by regression analysis, assuming different risk effect models. Results: Significant LOD scores between 2 and 3 were obtained at the two SPR-flanking markers D2S2110 and D2S1394 and seven SNP markers around the SPR gene. We found the previously reported promoter SNP rs1876487 also significantly associated with age of onset in our sib pair families (p-value 0.02). One strong linkage disequilibrium (LD) block of 45 kb including the entire SPR gene was observed. Within this LD block all 14 inter-correlated SNPs were significantly associated with Parkinson’s disease affection status (p-value 0.004). Conclusions: DNA polymorphisms in a highly intercorrelated LD block, which includes the SPR gene, appear to be associated with both sporadic and familial Parkinson’s disease. This confirms a previous study showing that SPR potentially modulates the onset of or risk for Parkinson’s disease.
Url:
DOI: 10.1136/jmg.2005.039149
Affiliations:
- Allemagne, Autriche, France, Italie, Pays-Bas, Royaume-Uni
- Angleterre, Bade-Wurtemberg, Bavière, District de Haute-Bavière, District de Tübingen, Grand Londres, Hollande-Méridionale, Latium, Vienne (Autriche)
- Londres, Munich, Paris, Rome, Rotterdam, Tübingen, Vienne (Autriche)
- Université Louis-et-Maximilien de Munich
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Zimprich</name><affiliation wicri:level="3"><country xml:lang="fr">Autriche</country><wicri:regionArea>Department of Neurology, Medical University of Vienna, Vienna</wicri:regionArea><placeName><settlement type="city">Vienne (Autriche)</settlement><region nuts="2" type="province">Vienne (Autriche)</region></placeName></affiliation></author><author><name sortKey="Lichtner, P" sort="Lichtner, P" uniqKey="Lichtner P" first="P" last="Lichtner">P. Lichtner</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute for Human Genetics–National Research Centre for Environment and Health, Neuherberg</wicri:regionArea><wicri:noRegion>Neuherberg</wicri:noRegion><wicri:noRegion>Neuherberg</wicri:noRegion></affiliation></author><author><name sortKey="Hofer, A" sort="Hofer, A" uniqKey="Hofer A" first="A" last="Hofer">A. Hofer</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Hertie-Institute for Clinical Brain Research, Department of Neurodegenerative Diseases, University of Tübingen, Tübingen</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Leitner, P" sort="Leitner, P" uniqKey="Leitner P" first="P" last="Leitner">P. Leitner</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Hertie-Institute for Clinical Brain Research, Department of Neurodegenerative Diseases, University of Tübingen, Tübingen</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Maass, S" sort="Maass, S" uniqKey="Maass S" first="S" last="Maass">S. Maass</name><affiliation wicri:level="4"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Ludwig-Maximilians-University, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName><orgName type="university">Université Louis-et-Maximilien de Munich</orgName></affiliation></author><author><name sortKey="Berg, D" sort="Berg, D" uniqKey="Berg D" first="D" last="Berg">D. Berg</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department for Medical Genetics, Eberhard Karls University Tübingen, Tübingen</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Durr, A" sort="Durr, A" uniqKey="Durr A" first="A" last="Dürr">A. Dürr</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>INSERM U289 and Department of Genetics, Cytogenetics and Embryology, AP-HP, Salpetriere Hospital, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Bonifati, V" sort="Bonifati, V" uniqKey="Bonifati V" first="V" last="Bonifati">V. Bonifati</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, University La Sapienza, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="De Michele, G" sort="De Michele, G" uniqKey="De Michele G" first="G" last="De Michele">G. De Michele</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Erasmus University, Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Oostra, B" sort="Oostra, B" uniqKey="Oostra B" first="B" last="Oostra">B. Oostra</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, Federico II University, Naples</wicri:regionArea><wicri:noRegion>Naples</wicri:noRegion></affiliation></author><author><name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A" last="Brice">A. Brice</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>INSERM U289 and Department of Genetics, Cytogenetics and Embryology, AP-HP, Salpetriere Hospital, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Wood, N W" sort="Wood, N W" uniqKey="Wood N" first="N W" last="Wood">N W Wood</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neuroscience, Institute of Neurology, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Muller Myhsok, B" sort="Muller Myhsok, B" uniqKey="Muller Myhsok B" first="B" last="Muller-Myhsok">B. Muller-Myhsok</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Max-Planck Institute for Psychiatry, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Gasser, T" sort="Gasser, T" uniqKey="Gasser T" first="T" last="Gasser">T. Gasser</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Hertie-Institute for Clinical Brain Research, Department of Neurodegenerative Diseases, University of Tübingen, Tübingen</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Journal of Medical Genetics</title><title level="j" type="abbrev">J Med Genet</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><publisher>BMJ Publishing Group Ltd</publisher><date type="published" when="2006-07">2006-07</date><biblScope unit="volume">43</biblScope><biblScope unit="issue">7</biblScope><biblScope unit="page" from="557">557</biblScope></imprint><idno type="ISSN">0022-2593</idno></series><idno type="istex">EAE8C17042AF64FE4310E7317F422141F45B6A58</idno><idno type="DOI">10.1136/jmg.2005.039149</idno><idno type="href">jmedgenet-43-557.pdf</idno><idno type="PMID">16443856</idno><idno type="PII">1468-6422</idno><idno type="local">0430557</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0022-2593</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>LD, linkage disequilibrium</term><term>MAF, minor allele frequency</term><term>NPL, non-parametric linkage scores</term><term>PARK3</term><term>Parkinson’s disease</term><term>SNP, single nucleotide polymorphism</term><term>SPR, sepiapterin reductase</term><term>STR, short tandem repeat</term><term>linkage disequilibrium</term><term>sepiapterin reductase</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Background: Parkinson’s disease is a genetically complex disease with mixed mode of inheritance. Recently, a haplotype across the sepiapterin reductase (SPR) gene, which is located in the PARK3 linkage region, was shown to modulate age of onset of Parkinson’s disease in sibships from North America. Objective: To make a thorough assessment of the SPR gene region in sporadic Parkinson’s disease. Methods: A linkage study in 122 European sibship families with five microsatellite and 17 single nucleotide polymorphism (SNP) markers in and around the SPR gene region, and an association analysis in 340 sporadic cases of Parkinson’s disease and 680 control subjects from Germany with 40 SNPs. Linkage was evaluated by non-parametric linkage scores and genotypic or haplotype association was tested by regression analysis, assuming different risk effect models. Results: Significant LOD scores between 2 and 3 were obtained at the two SPR-flanking markers D2S2110 and D2S1394 and seven SNP markers around the SPR gene. We found the previously reported promoter SNP rs1876487 also significantly associated with age of onset in our sib pair families (p-value 0.02). One strong linkage disequilibrium (LD) block of 45 kb including the entire SPR gene was observed. Within this LD block all 14 inter-correlated SNPs were significantly associated with Parkinson’s disease affection status (p-value 0.004). Conclusions: DNA polymorphisms in a highly intercorrelated LD block, which includes the SPR gene, appear to be associated with both sporadic and familial Parkinson’s disease. This confirms a previous study showing that SPR potentially modulates the onset of or risk for Parkinson’s disease.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Autriche</li><li>France</li><li>Italie</li><li>Pays-Bas</li><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Bade-Wurtemberg</li><li>Bavière</li><li>District de Haute-Bavière</li><li>District de Tübingen</li><li>Grand Londres</li><li>Hollande-Méridionale</li><li>Latium</li><li>Vienne (Autriche)</li></region><settlement><li>Londres</li><li>Munich</li><li>Paris</li><li>Rome</li><li>Rotterdam</li><li>Tübingen</li><li>Vienne (Autriche)</li></settlement><orgName><li>Université Louis-et-Maximilien de Munich</li></orgName></list><tree><country name="Allemagne"><region name="Bade-Wurtemberg"><name sortKey="Sharma, M" sort="Sharma, M" uniqKey="Sharma M" first="M" last="Sharma">M. Sharma</name></region><name sortKey="Berg, D" sort="Berg, D" uniqKey="Berg D" first="D" last="Berg">D. Berg</name><name sortKey="Gasser, T" sort="Gasser, T" uniqKey="Gasser T" first="T" last="Gasser">T. Gasser</name><name sortKey="Hofer, A" sort="Hofer, A" uniqKey="Hofer A" first="A" last="Hofer">A. Hofer</name><name sortKey="Leitner, P" sort="Leitner, P" uniqKey="Leitner P" first="P" last="Leitner">P. Leitner</name><name sortKey="Lichtner, P" sort="Lichtner, P" uniqKey="Lichtner P" first="P" last="Lichtner">P. Lichtner</name><name sortKey="Maass, S" sort="Maass, S" uniqKey="Maass S" first="S" last="Maass">S. Maass</name><name sortKey="Mueller, J C" sort="Mueller, J C" uniqKey="Mueller J" first="J C" last="Mueller">J C Mueller</name><name sortKey="Mueller, J C" sort="Mueller, J C" uniqKey="Mueller J" first="J C" last="Mueller">J C Mueller</name><name sortKey="Muller Myhsok, B" sort="Muller Myhsok, B" uniqKey="Muller Myhsok B" first="B" last="Muller-Myhsok">B. Muller-Myhsok</name></country><country name="Autriche"><region name="Vienne (Autriche)"><name sortKey="Zimprich, A" sort="Zimprich, A" uniqKey="Zimprich A" first="A" last="Zimprich">A. Zimprich</name></region></country><country name="France"><noRegion><name sortKey="Durr, A" sort="Durr, A" uniqKey="Durr A" first="A" last="Dürr">A. Dürr</name></noRegion><name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A" last="Brice">A. Brice</name></country><country name="Italie"><region name="Latium"><name sortKey="Bonifati, V" sort="Bonifati, V" uniqKey="Bonifati V" first="V" last="Bonifati">V. Bonifati</name></region><name sortKey="Oostra, B" sort="Oostra, B" uniqKey="Oostra B" first="B" last="Oostra">B. Oostra</name></country><country name="Pays-Bas"><region name="Hollande-Méridionale"><name sortKey="De Michele, G" sort="De Michele, G" uniqKey="De Michele G" first="G" last="De Michele">G. De Michele</name></region></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Wood, N W" sort="Wood, N W" uniqKey="Wood N" first="N W" last="Wood">N W Wood</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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