Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease
Identifieur interne : 000271 ( Ncbi/Merge ); précédent : 000270; suivant : 000272Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease
Auteurs : Todd Edwards ; William Scott ; Cherylyn Almonte ; Amber Burt ; Eric Powell ; Gary Beecham ; Liyong Wang ; Stephan Züchner ; Ioanna Konidari ; Gaofeng Wang ; Carlos Singer ; Fatta Nahab ; Burton Scott ; Jeffrey Stajich ; Margaret Pericak ; Jonathan Haines ; Jeffery Vance ; Eden MartinSource :
- Annals of human genetics [ 0003-4800 ] ; 2010.
Abstract
Parkinson disease (PD) is a chronic neurodegenerative disorder with a cumulative prevalence of greater than one per thousand. To date three independent genome-wide association studies (GWAS) have investigated the genetic susceptibility to PD. These studies have also implicated several genes as PD risk loci with strong, but not genome-wide significant, associations.
In this study, we combined data from two previously published GWAS of Caucasian subjects with our GWAS of 604 cases and 619 controls for a joint analysis with a combined sample size of 1752 cases and 1745 controls. SNPs in
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DOI: 10.1111/j.1469-1809.2009.00560.x
PubMed: 20070850
PubMed Central: 2853717
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Genome-wide association study confirms SNPs in <italic>SNCA</italic> and the <italic>MAPT</italic> region as common risk factors for Parkinson disease</title><author><name sortKey="Edwards, Todd L" sort="Edwards, Todd L" uniqKey="Edwards T" first="Todd" last="Edwards">Todd Edwards</name><affiliation><nlm:aff id="A1">John P. Hussman Institute for Human Genomics and the Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami</nlm:aff><wicri:noCountry code="subfield">University of Miami</wicri:noCountry></affiliation></author><author><name sortKey="Scott, William K" sort="Scott, William K" uniqKey="Scott W" first="William" last="Scott">William Scott</name><affiliation><nlm:aff id="A1">John P. Hussman Institute for Human Genomics and the Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami</nlm:aff><wicri:noCountry code="subfield">University of Miami</wicri:noCountry></affiliation></author><author><name sortKey="Almonte, Cherylyn" sort="Almonte, Cherylyn" uniqKey="Almonte C" first="Cherylyn" last="Almonte">Cherylyn Almonte</name><affiliation><nlm:aff id="A1">John P. Hussman Institute for Human Genomics and the Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami</nlm:aff><wicri:noCountry code="subfield">University of Miami</wicri:noCountry></affiliation></author><author><name sortKey="Burt, Amber" sort="Burt, Amber" uniqKey="Burt A" first="Amber" last="Burt">Amber Burt</name><affiliation><nlm:aff id="A1">John P. Hussman Institute for Human Genomics and the Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami</nlm:aff><wicri:noCountry code="subfield">University of Miami</wicri:noCountry></affiliation></author><author><name sortKey="Powell, Eric H" sort="Powell, Eric H" uniqKey="Powell E" first="Eric" last="Powell">Eric Powell</name><affiliation><nlm:aff id="A1">John P. Hussman Institute for Human Genomics and the Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami</nlm:aff><wicri:noCountry code="subfield">University of Miami</wicri:noCountry></affiliation></author><author><name sortKey="Beecham, Gary W" sort="Beecham, Gary W" uniqKey="Beecham G" first="Gary" last="Beecham">Gary Beecham</name><affiliation><nlm:aff id="A1">John P. Hussman Institute for Human Genomics and the Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami</nlm:aff><wicri:noCountry code="subfield">University of Miami</wicri:noCountry></affiliation></author><author><name sortKey="Wang, Liyong" sort="Wang, Liyong" uniqKey="Wang L" first="Liyong" last="Wang">Liyong Wang</name><affiliation><nlm:aff id="A1">John P. Hussman Institute for Human Genomics and the Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami</nlm:aff><wicri:noCountry code="subfield">University of Miami</wicri:noCountry></affiliation></author><author><name sortKey="Zuchner, Stephan" sort="Zuchner, Stephan" uniqKey="Zuchner S" first="Stephan" last="Züchner">Stephan Züchner</name><affiliation><nlm:aff id="A1">John P. Hussman Institute for Human Genomics and the Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami</nlm:aff><wicri:noCountry code="subfield">University of Miami</wicri:noCountry></affiliation></author><author><name sortKey="Konidari, Ioanna" sort="Konidari, Ioanna" uniqKey="Konidari I" first="Ioanna" last="Konidari">Ioanna Konidari</name><affiliation><nlm:aff id="A1">John P. Hussman Institute for Human Genomics and the Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami</nlm:aff><wicri:noCountry code="subfield">University of Miami</wicri:noCountry></affiliation></author><author><name sortKey="Wang, Gaofeng" sort="Wang, Gaofeng" uniqKey="Wang G" first="Gaofeng" last="Wang">Gaofeng Wang</name><affiliation><nlm:aff id="A1">John P. Hussman Institute for Human Genomics and the Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami</nlm:aff><wicri:noCountry code="subfield">University of Miami</wicri:noCountry></affiliation></author><author><name sortKey="Singer, Carlos" sort="Singer, Carlos" uniqKey="Singer C" first="Carlos" last="Singer">Carlos Singer</name><affiliation><nlm:aff id="A3">Department of Neurology, Miller School of Medicine, University of Miami</nlm:aff><wicri:noCountry code="subfield">University of Miami</wicri:noCountry></affiliation></author><author><name sortKey="Nahab, Fatta" sort="Nahab, Fatta" uniqKey="Nahab F" first="Fatta" last="Nahab">Fatta Nahab</name><affiliation><nlm:aff id="A3">Department of Neurology, Miller School of Medicine, University of Miami</nlm:aff><wicri:noCountry code="subfield">University of Miami</wicri:noCountry></affiliation></author><author><name sortKey="Scott, Burton" sort="Scott, Burton" uniqKey="Scott B" first="Burton" last="Scott">Burton Scott</name><affiliation><nlm:aff id="A4">Department of Medicine, Duke University Medical Center, Duke University</nlm:aff><wicri:noCountry code="subfield">Duke University</wicri:noCountry></affiliation></author><author><name sortKey="Stajich, Jeffrey M" sort="Stajich, Jeffrey M" uniqKey="Stajich J" first="Jeffrey" last="Stajich">Jeffrey Stajich</name><affiliation><nlm:aff id="A4">Department of Medicine, Duke University Medical Center, Duke University</nlm:aff><wicri:noCountry code="subfield">Duke University</wicri:noCountry></affiliation></author><author><name sortKey="Pericak Vance, Margaret" sort="Pericak Vance, Margaret" uniqKey="Pericak Vance M" first="Margaret" last="Pericak">Margaret Pericak</name><affiliation><nlm:aff id="A1">John P. Hussman Institute for Human Genomics and the Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami</nlm:aff><wicri:noCountry code="subfield">University of Miami</wicri:noCountry></affiliation></author><author><name sortKey="Haines, Jonathan" sort="Haines, Jonathan" uniqKey="Haines J" first="Jonathan" last="Haines">Jonathan Haines</name><affiliation><nlm:aff id="A2">Center for Human Genetics Research, Vanderbilt University Medical Center, Vanderbilt University</nlm:aff><wicri:noCountry code="subfield">Vanderbilt University</wicri:noCountry></affiliation></author><author><name sortKey="Vance, Jeffery M" sort="Vance, Jeffery M" uniqKey="Vance J" first="Jeffery" last="Vance">Jeffery Vance</name><affiliation><nlm:aff id="A1">John P. Hussman Institute for Human Genomics and the Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami</nlm:aff><wicri:noCountry code="subfield">University of Miami</wicri:noCountry></affiliation></author><author><name sortKey="Martin, Eden R" sort="Martin, Eden R" uniqKey="Martin E" first="Eden" last="Martin">Eden Martin</name><affiliation><nlm:aff id="A1">John P. Hussman Institute for Human Genomics and the Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami</nlm:aff><wicri:noCountry code="subfield">University of Miami</wicri:noCountry></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">20070850</idno><idno type="pmc">2853717</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2853717</idno><idno type="RBID">PMC:2853717</idno><idno type="doi">10.1111/j.1469-1809.2009.00560.x</idno><date when="2010">2010</date><idno type="wicri:Area/Pmc/Corpus">000156</idno><idno type="wicri:Area/Pmc/Curation">000156</idno><idno type="wicri:Area/Pmc/Checkpoint">000153</idno><idno type="wicri:Area/Ncbi/Merge">000271</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Genome-wide association study confirms SNPs in <italic>SNCA</italic> and the <italic>MAPT</italic> region as common risk factors for Parkinson disease</title><author><name sortKey="Edwards, Todd L" sort="Edwards, Todd L" uniqKey="Edwards T" first="Todd" last="Edwards">Todd Edwards</name><affiliation><nlm:aff id="A1">John P. Hussman Institute for Human Genomics and the Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami</nlm:aff><wicri:noCountry code="subfield">University of Miami</wicri:noCountry></affiliation></author><author><name sortKey="Scott, William K" sort="Scott, William K" uniqKey="Scott W" first="William" last="Scott">William Scott</name><affiliation><nlm:aff id="A1">John P. Hussman Institute for Human Genomics and the Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami</nlm:aff><wicri:noCountry code="subfield">University of Miami</wicri:noCountry></affiliation></author><author><name sortKey="Almonte, Cherylyn" sort="Almonte, Cherylyn" uniqKey="Almonte C" first="Cherylyn" last="Almonte">Cherylyn Almonte</name><affiliation><nlm:aff id="A1">John P. Hussman Institute for Human Genomics and the Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami</nlm:aff><wicri:noCountry code="subfield">University of Miami</wicri:noCountry></affiliation></author><author><name sortKey="Burt, Amber" sort="Burt, Amber" uniqKey="Burt A" first="Amber" last="Burt">Amber Burt</name><affiliation><nlm:aff id="A1">John P. Hussman Institute for Human Genomics and the Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami</nlm:aff><wicri:noCountry code="subfield">University of Miami</wicri:noCountry></affiliation></author><author><name sortKey="Powell, Eric H" sort="Powell, Eric H" uniqKey="Powell E" first="Eric" last="Powell">Eric Powell</name><affiliation><nlm:aff id="A1">John P. Hussman Institute for Human Genomics and the Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami</nlm:aff><wicri:noCountry code="subfield">University of Miami</wicri:noCountry></affiliation></author><author><name sortKey="Beecham, Gary W" sort="Beecham, Gary W" uniqKey="Beecham G" first="Gary" last="Beecham">Gary Beecham</name><affiliation><nlm:aff id="A1">John P. Hussman Institute for Human Genomics and the Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami</nlm:aff><wicri:noCountry code="subfield">University of Miami</wicri:noCountry></affiliation></author><author><name sortKey="Wang, Liyong" sort="Wang, Liyong" uniqKey="Wang L" first="Liyong" last="Wang">Liyong Wang</name><affiliation><nlm:aff id="A1">John P. Hussman Institute for Human Genomics and the Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami</nlm:aff><wicri:noCountry code="subfield">University of Miami</wicri:noCountry></affiliation></author><author><name sortKey="Zuchner, Stephan" sort="Zuchner, Stephan" uniqKey="Zuchner S" first="Stephan" last="Züchner">Stephan Züchner</name><affiliation><nlm:aff id="A1">John P. Hussman Institute for Human Genomics and the Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami</nlm:aff><wicri:noCountry code="subfield">University of Miami</wicri:noCountry></affiliation></author><author><name sortKey="Konidari, Ioanna" sort="Konidari, Ioanna" uniqKey="Konidari I" first="Ioanna" last="Konidari">Ioanna Konidari</name><affiliation><nlm:aff id="A1">John P. Hussman Institute for Human Genomics and the Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami</nlm:aff><wicri:noCountry code="subfield">University of Miami</wicri:noCountry></affiliation></author><author><name sortKey="Wang, Gaofeng" sort="Wang, Gaofeng" uniqKey="Wang G" first="Gaofeng" last="Wang">Gaofeng Wang</name><affiliation><nlm:aff id="A1">John P. Hussman Institute for Human Genomics and the Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami</nlm:aff><wicri:noCountry code="subfield">University of Miami</wicri:noCountry></affiliation></author><author><name sortKey="Singer, Carlos" sort="Singer, Carlos" uniqKey="Singer C" first="Carlos" last="Singer">Carlos Singer</name><affiliation><nlm:aff id="A3">Department of Neurology, Miller School of Medicine, University of Miami</nlm:aff><wicri:noCountry code="subfield">University of Miami</wicri:noCountry></affiliation></author><author><name sortKey="Nahab, Fatta" sort="Nahab, Fatta" uniqKey="Nahab F" first="Fatta" last="Nahab">Fatta Nahab</name><affiliation><nlm:aff id="A3">Department of Neurology, Miller School of Medicine, University of Miami</nlm:aff><wicri:noCountry code="subfield">University of Miami</wicri:noCountry></affiliation></author><author><name sortKey="Scott, Burton" sort="Scott, Burton" uniqKey="Scott B" first="Burton" last="Scott">Burton Scott</name><affiliation><nlm:aff id="A4">Department of Medicine, Duke University Medical Center, Duke University</nlm:aff><wicri:noCountry code="subfield">Duke University</wicri:noCountry></affiliation></author><author><name sortKey="Stajich, Jeffrey M" sort="Stajich, Jeffrey M" uniqKey="Stajich J" first="Jeffrey" last="Stajich">Jeffrey Stajich</name><affiliation><nlm:aff id="A4">Department of Medicine, Duke University Medical Center, Duke University</nlm:aff><wicri:noCountry code="subfield">Duke University</wicri:noCountry></affiliation></author><author><name sortKey="Pericak Vance, Margaret" sort="Pericak Vance, Margaret" uniqKey="Pericak Vance M" first="Margaret" last="Pericak">Margaret Pericak</name><affiliation><nlm:aff id="A1">John P. Hussman Institute for Human Genomics and the Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami</nlm:aff><wicri:noCountry code="subfield">University of Miami</wicri:noCountry></affiliation></author><author><name sortKey="Haines, Jonathan" sort="Haines, Jonathan" uniqKey="Haines J" first="Jonathan" last="Haines">Jonathan Haines</name><affiliation><nlm:aff id="A2">Center for Human Genetics Research, Vanderbilt University Medical Center, Vanderbilt University</nlm:aff><wicri:noCountry code="subfield">Vanderbilt University</wicri:noCountry></affiliation></author><author><name sortKey="Vance, Jeffery M" sort="Vance, Jeffery M" uniqKey="Vance J" first="Jeffery" last="Vance">Jeffery Vance</name><affiliation><nlm:aff id="A1">John P. Hussman Institute for Human Genomics and the Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami</nlm:aff><wicri:noCountry code="subfield">University of Miami</wicri:noCountry></affiliation></author><author><name sortKey="Martin, Eden R" sort="Martin, Eden R" uniqKey="Martin E" first="Eden" last="Martin">Eden Martin</name><affiliation><nlm:aff id="A1">John P. Hussman Institute for Human Genomics and the Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami</nlm:aff><wicri:noCountry code="subfield">University of Miami</wicri:noCountry></affiliation></author></analytic><series><title level="j">Annals of human genetics</title><idno type="ISSN">0003-4800</idno><idno type="e-ISSN">1469-1809</idno><imprint><date when="2010">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><title>SUMMARY</title><p id="P1">Parkinson disease (PD) is a chronic neurodegenerative disorder with a cumulative prevalence of greater than one per thousand. To date three independent genome-wide association studies (GWAS) have investigated the genetic susceptibility to PD. These studies have also implicated several genes as PD risk loci with strong, but not genome-wide significant, associations.</p><p id="P2">In this study, we combined data from two previously published GWAS of Caucasian subjects with our GWAS of 604 cases and 619 controls for a joint analysis with a combined sample size of 1752 cases and 1745 controls. SNPs in <italic>SNCA</italic> (rs2736990, p-value = 6.7×10<sup>−8</sup>; genome-wide adjusted p = 0.0109, odds ratio (OR) = 1.29 [95% CI: 1.17–1.42] G vs. A allele, population attributable risk percent (PAR%) = 12%) and the <italic>MAPT</italic> region (rs11012, p-value = 5.6×10<sup>−8</sup>; genome-wide adjusted p = 0.0079, OR = 0.70 [95% CI: 0.62–0.79] T vs. C allele, PAR% = 8%) were genome-wide significant. No other SNPs were genome-wide significant in this analysis. This study confirms that <italic>SNCA</italic> and the <italic>MAPT</italic> region are major genes whose common variants are influencing risk of PD.</p></div></front></TEI><pmc article-type="research-article" xml:lang="EN"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">0416661</journal-id><journal-id journal-id-type="pubmed-jr-id">585</journal-id><journal-id journal-id-type="nlm-ta">Ann Hum Genet</journal-id><journal-title>Annals of human genetics</journal-title><issn pub-type="ppub">0003-4800</issn><issn pub-type="epub">1469-1809</issn></journal-meta><article-meta><article-id pub-id-type="pmid">20070850</article-id><article-id pub-id-type="pmc">2853717</article-id><article-id pub-id-type="doi">10.1111/j.1469-1809.2009.00560.x</article-id><article-id pub-id-type="manuscript">NIHMS163407</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Genome-wide association study confirms SNPs in <italic>SNCA</italic> and the <italic>MAPT</italic> region as common risk factors for Parkinson disease</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Edwards</surname><given-names>Todd L.</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Scott</surname><given-names>William K.</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Almonte</surname><given-names>Cherylyn</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Burt</surname><given-names>Amber</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Powell</surname><given-names>Eric H.</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Beecham</surname><given-names>Gary W.</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Wang</surname><given-names>Liyong</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Züchner</surname><given-names>Stephan</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Konidari</surname><given-names>Ioanna</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Wang</surname><given-names>Gaofeng</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Singer</surname><given-names>Carlos</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Nahab</surname><given-names>Fatta</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Scott</surname><given-names>Burton</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Stajich</surname><given-names>Jeffrey M.</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Pericak-Vance</surname><given-names>Margaret</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Haines</surname><given-names>Jonathan</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Vance</surname><given-names>Jeffery M.</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Martin</surname><given-names>Eden R.</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib></contrib-group><aff id="A1"><label>1</label>John P. Hussman Institute for Human Genomics and the Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami</aff><aff id="A2"><label>2</label>Center for Human Genetics Research, Vanderbilt University Medical Center, Vanderbilt University</aff><aff id="A3"><label>3</label>Department of Neurology, Miller School of Medicine, University of Miami</aff><aff id="A4"><label>4</label>Department of Medicine, Duke University Medical Center, Duke University</aff><author-notes><corresp id="cor1"><bold>Corresponding Author</bold>, Eden R. Martin, John P. Hussman Institute for Human Genomics, 1501 NW 10<sup>th</sup> Avenue. BRB 305 (M-860), Miami FL 33136, Telephone: 305-243-2283, Fax: 305-243-2396, <email>Emartin1@med.miami.edu</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>7</day><month>1</month><year>2010</year></pub-date><pub-date pub-type="epub"><day>8</day><month>1</month><year>2010</year></pub-date><pub-date pub-type="ppub"><month>3</month><year>2010</year></pub-date><pub-date pub-type="pmc-release"><day>1</day><month>3</month><year>2011</year></pub-date><volume>74</volume><issue>2</issue><fpage>97</fpage><lpage>109</lpage><abstract><title>SUMMARY</title><p id="P1">Parkinson disease (PD) is a chronic neurodegenerative disorder with a cumulative prevalence of greater than one per thousand. To date three independent genome-wide association studies (GWAS) have investigated the genetic susceptibility to PD. These studies have also implicated several genes as PD risk loci with strong, but not genome-wide significant, associations.</p><p id="P2">In this study, we combined data from two previously published GWAS of Caucasian subjects with our GWAS of 604 cases and 619 controls for a joint analysis with a combined sample size of 1752 cases and 1745 controls. SNPs in <italic>SNCA</italic> (rs2736990, p-value = 6.7×10<sup>−8</sup>; genome-wide adjusted p = 0.0109, odds ratio (OR) = 1.29 [95% CI: 1.17–1.42] G vs. A allele, population attributable risk percent (PAR%) = 12%) and the <italic>MAPT</italic> region (rs11012, p-value = 5.6×10<sup>−8</sup>; genome-wide adjusted p = 0.0079, OR = 0.70 [95% CI: 0.62–0.79] T vs. C allele, PAR% = 8%) were genome-wide significant. No other SNPs were genome-wide significant in this analysis. This study confirms that <italic>SNCA</italic> and the <italic>MAPT</italic> region are major genes whose common variants are influencing risk of PD.</p></abstract><kwd-group><kwd>Parkinson disease</kwd><kwd>Association study</kwd><kwd>Alpha-synuclein</kwd><kwd>Microtubule associated protein tau</kwd></kwd-group><contract-num rid="NS1">P50 NS039764-10S40003
||NS</contract-num><contract-sponsor id="NS1">National Institute of Neurological Disorders and Stroke : NINDS</contract-sponsor></article-meta></front></pmc><affiliations><list></list><tree><noCountry><name sortKey="Almonte, Cherylyn" sort="Almonte, Cherylyn" uniqKey="Almonte C" first="Cherylyn" last="Almonte">Cherylyn Almonte</name><name sortKey="Beecham, Gary W" sort="Beecham, Gary W" uniqKey="Beecham G" first="Gary" last="Beecham">Gary Beecham</name><name sortKey="Burt, Amber" sort="Burt, Amber" uniqKey="Burt A" first="Amber" last="Burt">Amber Burt</name><name sortKey="Edwards, Todd L" sort="Edwards, Todd L" uniqKey="Edwards T" first="Todd" last="Edwards">Todd Edwards</name><name sortKey="Haines, Jonathan" sort="Haines, Jonathan" uniqKey="Haines J" first="Jonathan" last="Haines">Jonathan Haines</name><name sortKey="Konidari, Ioanna" sort="Konidari, Ioanna" uniqKey="Konidari I" first="Ioanna" last="Konidari">Ioanna Konidari</name><name sortKey="Martin, Eden R" sort="Martin, Eden R" uniqKey="Martin E" first="Eden" last="Martin">Eden Martin</name><name sortKey="Nahab, Fatta" sort="Nahab, Fatta" uniqKey="Nahab F" first="Fatta" last="Nahab">Fatta Nahab</name><name sortKey="Pericak Vance, Margaret" sort="Pericak Vance, Margaret" uniqKey="Pericak Vance M" first="Margaret" last="Pericak">Margaret Pericak</name><name sortKey="Powell, Eric H" sort="Powell, Eric H" uniqKey="Powell E" first="Eric" last="Powell">Eric Powell</name><name sortKey="Scott, Burton" sort="Scott, Burton" uniqKey="Scott B" first="Burton" last="Scott">Burton Scott</name><name sortKey="Scott, William K" sort="Scott, William K" uniqKey="Scott W" first="William" last="Scott">William Scott</name><name sortKey="Singer, Carlos" sort="Singer, Carlos" uniqKey="Singer C" first="Carlos" last="Singer">Carlos Singer</name><name sortKey="Stajich, Jeffrey M" sort="Stajich, Jeffrey M" uniqKey="Stajich J" first="Jeffrey" last="Stajich">Jeffrey Stajich</name><name sortKey="Vance, Jeffery M" sort="Vance, Jeffery M" uniqKey="Vance J" first="Jeffery" last="Vance">Jeffery Vance</name><name sortKey="Wang, Gaofeng" sort="Wang, Gaofeng" uniqKey="Wang G" first="Gaofeng" last="Wang">Gaofeng Wang</name><name sortKey="Wang, Liyong" sort="Wang, Liyong" uniqKey="Wang L" first="Liyong" last="Wang">Liyong Wang</name><name sortKey="Zuchner, Stephan" sort="Zuchner, Stephan" uniqKey="Zuchner S" first="Stephan" last="Züchner">Stephan Züchner</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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