The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations
Identifieur interne : 000586 ( Ncbi/Merge ); précédent : 000585; suivant : 000587The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations
Auteurs : M. Sharma ; J C Mueller ; A. Zimprich ; P. Lichtner ; A. Hofer ; P. Leitner ; S. Maass ; D. Berg ; A. Dürr ; V. Bonifati ; G. De Michele ; B. Oostra ; A. Brice ; N W Wood ; B. Muller-Myhsok ; T. GasserSource :
- Journal of Medical Genetics [ 0022-2593 ] ; 2006.
Abstract
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.
To make a thorough assessment of the SPR gene region in sporadic Parkinson's disease.
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.
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).
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.
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DOI: 10.1136/jmg.2005.039149
PubMed: 16443856
PubMed Central: 2593029
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Leitner</name></author><author><name sortKey="Maass, S" sort="Maass, S" uniqKey="Maass S" first="S" last="Maass">S. Maass</name></author><author><name sortKey="Berg, D" sort="Berg, D" uniqKey="Berg D" first="D" last="Berg">D. Berg</name></author><author><name sortKey="Durr, A" sort="Durr, A" uniqKey="Durr A" first="A" last="Dürr">A. Dürr</name></author><author><name sortKey="Bonifati, V" sort="Bonifati, V" uniqKey="Bonifati V" first="V" last="Bonifati">V. Bonifati</name></author><author><name sortKey="De Michele, G" sort="De Michele, G" uniqKey="De Michele G" first="G" last="De Michele">G. De Michele</name></author><author><name sortKey="Oostra, B" sort="Oostra, B" uniqKey="Oostra B" first="B" last="Oostra">B. Oostra</name></author><author><name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A" last="Brice">A. 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Sharma</name></author><author><name sortKey="Mueller, J C" sort="Mueller, J C" uniqKey="Mueller J" first="J C" last="Mueller">J C Mueller</name></author><author><name sortKey="Zimprich, A" sort="Zimprich, A" uniqKey="Zimprich A" first="A" last="Zimprich">A. Zimprich</name></author><author><name sortKey="Lichtner, P" sort="Lichtner, P" uniqKey="Lichtner P" first="P" last="Lichtner">P. Lichtner</name></author><author><name sortKey="Hofer, A" sort="Hofer, A" uniqKey="Hofer A" first="A" last="Hofer">A. Hofer</name></author><author><name sortKey="Leitner, P" sort="Leitner, P" uniqKey="Leitner P" first="P" last="Leitner">P. Leitner</name></author><author><name sortKey="Maass, S" sort="Maass, S" uniqKey="Maass S" first="S" last="Maass">S. Maass</name></author><author><name sortKey="Berg, D" sort="Berg, D" uniqKey="Berg D" first="D" last="Berg">D. Berg</name></author><author><name sortKey="Durr, A" sort="Durr, A" uniqKey="Durr A" first="A" last="Dürr">A. Dürr</name></author><author><name sortKey="Bonifati, V" sort="Bonifati, V" uniqKey="Bonifati V" first="V" last="Bonifati">V. Bonifati</name></author><author><name sortKey="De Michele, G" sort="De Michele, G" uniqKey="De Michele G" first="G" last="De Michele">G. De Michele</name></author><author><name sortKey="Oostra, B" sort="Oostra, B" uniqKey="Oostra B" first="B" last="Oostra">B. Oostra</name></author><author><name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A" last="Brice">A. Brice</name></author><author><name sortKey="Wood, N W" sort="Wood, N W" uniqKey="Wood N" first="N W" last="Wood">N W Wood</name></author><author><name sortKey="Muller Yhsok, B" sort="Muller Yhsok, B" uniqKey="Muller Yhsok B" first="B" last="Muller-Myhsok">B. Muller-Myhsok</name></author><author><name sortKey="Gasser, T" sort="Gasser, T" uniqKey="Gasser T" first="T" last="Gasser">T. Gasser</name></author></analytic><series><title level="j">Journal of Medical Genetics</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><date when="2006">2006</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Background</title><p>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.</p></sec><sec><title>Objective</title><p>To make a thorough assessment of the SPR gene region in sporadic Parkinson's disease.</p></sec><sec><title>Methods</title><p>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.</p></sec><sec><title>Results</title><p>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).</p></sec><sec><title>Conclusions</title><p>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.</p></sec></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">J Med Genet</journal-id><journal-title>Journal of Medical Genetics</journal-title><issn pub-type="ppub">0022-2593</issn><issn pub-type="epub">1468-6244</issn><publisher><publisher-name>BMJ Group</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">16443856</article-id><article-id pub-id-type="pmc">2593029</article-id><article-id pub-id-type="publisher-id">mg39149</article-id><article-id pub-id-type="doi">10.1136/jmg.2005.039149</article-id><article-categories><subj-group subj-group-type="heading"><subject>Original Article</subject></subj-group></article-categories><title-group><article-title>The sepiapterin reductase gene region reveals association in the <italic>PARK3</italic> locus: analysis of familial and sporadic Parkinson's disease in European populations</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Sharma</surname><given-names>M</given-names></name></contrib><contrib contrib-type="author"><name><surname>Mueller</surname><given-names>J C</given-names></name></contrib><contrib contrib-type="author"><name><surname>Zimprich</surname><given-names>A</given-names></name></contrib><contrib contrib-type="author"><name><surname>Lichtner</surname><given-names>P</given-names></name></contrib><contrib contrib-type="author"><name><surname>Hofer</surname><given-names>A</given-names></name></contrib><contrib contrib-type="author"><name><surname>Leitner</surname><given-names>P</given-names></name></contrib><contrib contrib-type="author"><name><surname>Maass</surname><given-names>S</given-names></name></contrib><contrib contrib-type="author"><name><surname>Berg</surname><given-names>D</given-names></name></contrib><contrib contrib-type="author"><name><surname>Dürr</surname><given-names>A</given-names></name></contrib><contrib contrib-type="author"><name><surname>Bonifati</surname><given-names>V</given-names></name></contrib><contrib contrib-type="author"><name><surname>De Michele</surname><given-names>G</given-names></name></contrib><contrib contrib-type="author"><name><surname>Oostra</surname><given-names>B</given-names></name></contrib><contrib contrib-type="author"><name><surname>Brice</surname><given-names>A</given-names></name></contrib><contrib contrib-type="author"><name><surname>Wood</surname><given-names>N W</given-names></name></contrib><contrib contrib-type="author"><name><surname>Muller‐Myhsok</surname><given-names>B</given-names></name></contrib><contrib contrib-type="author"><name><surname>Gasser</surname><given-names>T</given-names></name></contrib><on-behalf-of>European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD)</on-behalf-of></contrib-group><aff><bold>M Sharma*</bold>,<bold>J C Mueller*</bold>,<bold>A Hofer</bold>,<bold>P Leitner</bold>,<bold>D Berg</bold>,<bold>T Gasser</bold>, Hertie‐Institute for Clinical Brain Research, Department of Neurodegenerative Diseases, University of Tübingen, Tübingen, Germany</aff><aff><bold>J C Mueller</bold>, Institute for Medical Statistics and Epidemiology and Institute for Psychiatry and Psychotherapy, Technical University Munich, Munich, Germany</aff><aff><bold>A Zimprich</bold>, Department of Neurology, Medical University of Vienna, Vienna, Austria</aff><aff><bold>P Lichtner</bold>, Institute for Human Genetics–National Research Centre for Environment and Health, Neuherberg, Germany</aff><aff><bold>S Maass</bold>, Department of Neurology, Ludwig‐Maximilians‐University, Munich, Germany</aff><aff><bold>D Berg</bold>, Department for Medical Genetics, Eberhard Karls University Tübingen, Tübingen, Germany</aff><aff><bold>A Dürr</bold>,<bold>A Brice</bold>, INSERM U289 and Department of Genetics, Cytogenetics and Embryology, AP‐HP, Salpetriere Hospital, Paris, France</aff><aff><bold>V Bonifati</bold>, Department of Neurological Sciences, University La Sapienza, Rome, Italy</aff><aff><bold>G De Michele</bold>, Department of Clinical Genetics, Erasmus University, Rotterdam, Netherlands</aff><aff><bold>B Oostra</bold>, Department of Neurological Sciences, Federico II University, Naples, Italy</aff><aff><bold>N W Wood</bold>, Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK</aff><aff><bold>B Muller‐Myhsok</bold>, Max‐Planck Institute for Psychiatry, Munich, Germany</aff><author-notes><corresp>Correspondence to: Prof Dr med Thomas Gasser<break></break>Hertie‐Institute for Clinical Brain Research, Department for Neurodegenerative Diseases, University of Tübingen, Hoppe‐Seyler Str 3, 72076 Tübingen, Germany; Thomas.Gasser@med.uni‐tuebingen.de</corresp><fn><p>*Both authors contributed equally to work</p></fn><fn><p>The European Consortium on Genetic Susceptibility in Parkinson's disease: N W Wood, D Nicholl (UK); A Brice, A Dürr, M Martinez, Y Agid (France); T Gasser, B Müller‐Myhsok (Germany); M Breteler, S Harhangi, B Oostra (Netherlands); V Bonifati, E Fabrizio, N Vanacore, G Meco, G DeMichele, G Volpe, A Filla (Italy).</p></fn></author-notes><pub-date pub-type="ppub"><month>7</month><year>2006</year></pub-date><pub-date pub-type="epub"><day>27</day><month>1</month><year>2006</year></pub-date><volume>43</volume><issue>7</issue><fpage>557</fpage><lpage>562</lpage><history><date date-type="received"><day>25</day><month>10</month><year>2005</year></date><date date-type="rev-recd"><day>4</day><month>1</month><year>2006</year></date><date date-type="accepted"><day>5</day><month>1</month><year>2006</year></date></history><permissions><copyright-statement>Copyright ©2006 BMJ Publishing Group Ltd.</copyright-statement></permissions><abstract><sec><title>Background</title><p>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.</p></sec><sec><title>Objective</title><p>To make a thorough assessment of the SPR gene region in sporadic Parkinson's disease.</p></sec><sec><title>Methods</title><p>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.</p></sec><sec><title>Results</title><p>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).</p></sec><sec><title>Conclusions</title><p>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.</p></sec></abstract><kwd-group><kwd>linkage disequilibrium</kwd><kwd>PARK3</kwd><kwd>Parkinson's disease</kwd><kwd>sepiapterin reductase</kwd></kwd-group></article-meta></front></pmc><affiliations><list></list><tree><noCountry><name sortKey="Berg, D" sort="Berg, D" uniqKey="Berg D" first="D" last="Berg">D. Berg</name><name sortKey="Bonifati, V" sort="Bonifati, V" uniqKey="Bonifati V" first="V" last="Bonifati">V. Bonifati</name><name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A" last="Brice">A. Brice</name><name sortKey="De Michele, G" sort="De Michele, G" uniqKey="De Michele G" first="G" last="De Michele">G. De Michele</name><name sortKey="Durr, A" sort="Durr, A" uniqKey="Durr A" first="A" last="Dürr">A. Dürr</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="Muller Yhsok, B" sort="Muller Yhsok, B" uniqKey="Muller Yhsok B" first="B" last="Muller-Myhsok">B. Muller-Myhsok</name><name sortKey="Oostra, B" sort="Oostra, B" uniqKey="Oostra B" first="B" last="Oostra">B. Oostra</name><name sortKey="Sharma, M" sort="Sharma, M" uniqKey="Sharma M" first="M" last="Sharma">M. Sharma</name><name sortKey="Wood, N W" sort="Wood, N W" uniqKey="Wood N" first="N W" last="Wood">N W Wood</name><name sortKey="Zimprich, A" sort="Zimprich, A" uniqKey="Zimprich A" first="A" last="Zimprich">A. Zimprich</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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