Common variants in PARK loci and related genes and Parkinson's disease
Identifieur interne : 000358 ( Main/Exploration ); précédent : 000357; suivant : 000359Common variants in PARK loci and related genes and Parkinson's disease
Auteurs : Sun Ju Chung [États-Unis, Corée du Sud] ; Sebastian M. Armasu [États-Unis] ; Joanna M. Biernacka [États-Unis] ; Timothy G. Lesnick [États-Unis] ; David N. Rider [États-Unis] ; Sarah J. Lincoln [États-Unis] ; Alexandra I. Ortolaza [États-Unis] ; Matthew J. Farrer [États-Unis] ; Julie M. Cunningham [États-Unis] ; Walter A. Rocca [États-Unis] ; Demetrius M. Maraganore [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2011-02-01.
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Abstract
Rare mutations in PARK loci genes cause Parkinson's disease (PD) in some families and isolated populations. We investigated the association of common variants in PARK loci and related genes with PD susceptibility and age at onset in an outbred population. A total of 1,103 PD cases from the upper Midwest, USA, were individually matched to unaffected siblings (n = 654) or unrelated controls (n = 449) from the same region. Using a sequencing approach in 25 cases and 25 controls, single nucleotide polymorphisms (SNPs) in species‐conserved regions of PARK loci and related genes were detected. We selected additional tag SNPs from the HapMap. We genotyped a total of 235 SNPs and two variable number tandem repeats in the ATP13A2, DJ1, LRRK1, LRRK2, MAPT, Omi/HtrA2, PARK2, PINK1, SNCA, SNCB, SNCG, SPR, and UCHL1 genes in all 2,206 subjects. Case‐control analyses were performed to study association with PD susceptibility, while cases‐only analyses were used to study association with age at onset. Only MAPT SNP rs2435200 was associated with PD susceptibility after correction for multiple testing (OR = 0.74, 95% CI = 0.64–0.86, uncorrected P < 0.0001, log additive model); however, 16 additional MAPT variants, seven SNCA variants, and one LRRK2, PARK2, and UCHL1 variants each had significant uncorrected P‐values. There were no significant associations for age at onset after correction for multiple testing. Our results confirm the association of MAPT and SNCA genes with PD susceptibility but show limited association of other PARK loci and related genes with PD. © 2010 Movement Disorder Society
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DOI: 10.1002/mds.23376
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Lesnick</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota</wicri:regionArea><placeName><region type="state">Minnesota</region></placeName></affiliation></author><author><name sortKey="Rider, David N" sort="Rider, David N" uniqKey="Rider D" first="David N." last="Rider">David N. Rider</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota</wicri:regionArea><placeName><region type="state">Minnesota</region></placeName></affiliation></author><author><name sortKey="Lincoln, Sarah J" sort="Lincoln, Sarah J" uniqKey="Lincoln S" first="Sarah J." last="Lincoln">Sarah J. Lincoln</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Ortolaza, Alexandra I" sort="Ortolaza, Alexandra I" uniqKey="Ortolaza A" first="Alexandra I." last="Ortolaza">Alexandra I. Ortolaza</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. 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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2011-02-01">2011-02-01</date><biblScope unit="volume">26</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="280">280</biblScope><biblScope unit="page" to="288">288</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">51897DD8CE09DF27138BA8382CB9B9E25BFB08BB</idno><idno type="DOI">10.1002/mds.23376</idno><idno type="ArticleID">MDS23376</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>PARK loci genes</term><term>Parkinson's disease</term><term>age at onset of Parkinson's disease</term><term>common genetic variants</term><term>susceptibility to Parkinson's disease</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Rare mutations in PARK loci genes cause Parkinson's disease (PD) in some families and isolated populations. We investigated the association of common variants in PARK loci and related genes with PD susceptibility and age at onset in an outbred population. A total of 1,103 PD cases from the upper Midwest, USA, were individually matched to unaffected siblings (n = 654) or unrelated controls (n = 449) from the same region. Using a sequencing approach in 25 cases and 25 controls, single nucleotide polymorphisms (SNPs) in species‐conserved regions of PARK loci and related genes were detected. We selected additional tag SNPs from the HapMap. We genotyped a total of 235 SNPs and two variable number tandem repeats in the ATP13A2, DJ1, LRRK1, LRRK2, MAPT, Omi/HtrA2, PARK2, PINK1, SNCA, SNCB, SNCG, SPR, and UCHL1 genes in all 2,206 subjects. Case‐control analyses were performed to study association with PD susceptibility, while cases‐only analyses were used to study association with age at onset. Only MAPT SNP rs2435200 was associated with PD susceptibility after correction for multiple testing (OR = 0.74, 95% CI = 0.64–0.86, uncorrected P < 0.0001, log additive model); however, 16 additional MAPT variants, seven SNCA variants, and one LRRK2, PARK2, and UCHL1 variants each had significant uncorrected P‐values. There were no significant associations for age at onset after correction for multiple testing. Our results confirm the association of MAPT and SNCA genes with PD susceptibility but show limited association of other PARK loci and related genes with PD. © 2010 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Corée du Sud</li><li>États-Unis</li></country><region><li>Floride</li><li>Illinois</li><li>Minnesota</li></region><settlement><li>Séoul</li></settlement></list><tree><country name="États-Unis"><region name="Minnesota"><name sortKey="Chung, Sun Ju" sort="Chung, Sun Ju" uniqKey="Chung S" first="Sun Ju" last="Chung">Sun Ju Chung</name></region><name sortKey="Armasu, Sebastian M" sort="Armasu, Sebastian M" uniqKey="Armasu S" first="Sebastian M." last="Armasu">Sebastian M. Armasu</name><name sortKey="Biernacka, Joanna M" sort="Biernacka, Joanna M" uniqKey="Biernacka J" first="Joanna M." last="Biernacka">Joanna M. Biernacka</name><name sortKey="Cunningham, Julie M" sort="Cunningham, Julie M" uniqKey="Cunningham J" first="Julie M." last="Cunningham">Julie M. Cunningham</name><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><name sortKey="Lesnick, Timothy G" sort="Lesnick, Timothy G" uniqKey="Lesnick T" first="Timothy G." last="Lesnick">Timothy G. Lesnick</name><name sortKey="Lincoln, Sarah J" sort="Lincoln, Sarah J" uniqKey="Lincoln S" first="Sarah J." last="Lincoln">Sarah J. Lincoln</name><name sortKey="Maraganore, Demetrius M" sort="Maraganore, Demetrius M" uniqKey="Maraganore D" first="Demetrius M." last="Maraganore">Demetrius M. Maraganore</name><name sortKey="Maraganore, Demetrius M" sort="Maraganore, Demetrius M" uniqKey="Maraganore D" first="Demetrius M." last="Maraganore">Demetrius M. Maraganore</name><name sortKey="Ortolaza, Alexandra I" sort="Ortolaza, Alexandra I" uniqKey="Ortolaza A" first="Alexandra I." last="Ortolaza">Alexandra I. Ortolaza</name><name sortKey="Rider, David N" sort="Rider, David N" uniqKey="Rider D" first="David N." last="Rider">David N. Rider</name><name sortKey="Rocca, Walter A" sort="Rocca, Walter A" uniqKey="Rocca W" first="Walter A." last="Rocca">Walter A. Rocca</name><name sortKey="Rocca, Walter A" sort="Rocca, Walter A" uniqKey="Rocca W" first="Walter A." last="Rocca">Walter A. Rocca</name></country><country name="Corée du Sud"><noRegion><name sortKey="Chung, Sun Ju" sort="Chung, Sun Ju" uniqKey="Chung S" first="Sun Ju" last="Chung">Sun Ju Chung</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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