Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa
Identifieur interne : 000771 ( Main/Exploration ); précédent : 000770; suivant : 000772Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa
Auteurs : Barbara Jasinska-Myga [États-Unis, Pologne] ; Jennifer Kachergus [États-Unis] ; Carles Vilari O-Güell [États-Unis] ; Christian Wider [États-Unis] ; Alexandra I. Soto-Ortolaza [États-Unis] ; Mounir Kefi [Tunisie] ; Lefkos T. Middleton [Royaume-Uni] ; Lianna Ishihara-Paul [Royaume-Uni] ; Rachel A. Gibson [Royaume-Uni] ; Rim Amouri [Tunisie] ; Samia Ben Yahmed [Tunisie] ; Samia Ben Sassi [Tunisie] ; Mourad Zouari [Tunisie] ; Ghada El Euch [Tunisie] ; Owen A. Ross [États-Unis] ; Faycal Hentati [Tunisie] ; Matthew J. Farrer [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2010-10-15.
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Abstract
The LRRK2 gene is a key player in Parkinson's disease (PD), however prevalence and pathogenicity of LRRK2 variants remain to be investigated in ethnically diverse populations. Herein, we performed comprehensive sequencing of the LRRK2 gene in 92 Tunisian probands with familial PD. We then performed an association study using all identified variants in a series of 167 Lrrk2 p.G2019S‐negative patients with sporadic PD and 365 Lrrk2 p.G2019S‐negative healthy control subjects, all from the same Arab‐Berber ethnicity. We identified one novel coding substitution (p.M2408I) and 24 known coding changes. Only the Lrrk2 p.G2019S mutation segregated with disease within families and was found in 39% of familial probands. None of the variants displayed significant association with risk for sporadic PD, however a trend was observed for Lrrk2 p.Y2189C. The present study underscores the importance of the LRRK2 gene in the Tunisian PD population. © 2010 Movement Disorder Society
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DOI: 10.1002/mds.23283
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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="2010-10-15">2010-10-15</date><biblScope unit="volume">25</biblScope><biblScope unit="issue">13</biblScope><biblScope unit="page" from="2052">2052</biblScope><biblScope unit="page" to="2058">2058</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">E912089DAECC4BEB172EB5FC5D7EE26D83CBEC6E</idno><idno type="DOI">10.1002/mds.23283</idno><idno type="ArticleID">MDS23283</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Arab‐Berbers</term><term>LRRK2</term><term>Parkinson's disease</term><term>familial Parkinson's disease</term><term>genetics</term><term>sequencing</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The LRRK2 gene is a key player in Parkinson's disease (PD), however prevalence and pathogenicity of LRRK2 variants remain to be investigated in ethnically diverse populations. Herein, we performed comprehensive sequencing of the LRRK2 gene in 92 Tunisian probands with familial PD. We then performed an association study using all identified variants in a series of 167 Lrrk2 p.G2019S‐negative patients with sporadic PD and 365 Lrrk2 p.G2019S‐negative healthy control subjects, all from the same Arab‐Berber ethnicity. We identified one novel coding substitution (p.M2408I) and 24 known coding changes. Only the Lrrk2 p.G2019S mutation segregated with disease within families and was found in 39% of familial probands. None of the variants displayed significant association with risk for sporadic PD, however a trend was observed for Lrrk2 p.Y2189C. The present study underscores the importance of the LRRK2 gene in the Tunisian PD population. © 2010 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Pologne</li><li>Royaume-Uni</li><li>Tunisie</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Floride</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement></list><tree><country name="États-Unis"><region name="Floride"><name sortKey="Jasinska Yga, Barbara" sort="Jasinska Yga, Barbara" uniqKey="Jasinska Yga B" first="Barbara" last="Jasinska-Myga">Barbara Jasinska-Myga</name></region><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><name sortKey="Kachergus, Jennifer" sort="Kachergus, Jennifer" uniqKey="Kachergus J" first="Jennifer" last="Kachergus">Jennifer Kachergus</name><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name><name sortKey="Soto Rtolaza, Alexandra I" sort="Soto Rtolaza, Alexandra I" uniqKey="Soto Rtolaza A" first="Alexandra I." last="Soto-Ortolaza">Alexandra I. Soto-Ortolaza</name><name sortKey="Vilari O Ell, Carles" sort="Vilari O Ell, Carles" uniqKey="Vilari O Ell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name><name sortKey="Wider, Christian" sort="Wider, Christian" uniqKey="Wider C" first="Christian" last="Wider">Christian Wider</name></country><country name="Pologne"><noRegion><name sortKey="Jasinska Yga, Barbara" sort="Jasinska Yga, Barbara" uniqKey="Jasinska Yga B" first="Barbara" last="Jasinska-Myga">Barbara Jasinska-Myga</name></noRegion></country><country name="Tunisie"><noRegion><name sortKey="Kefi, Mounir" sort="Kefi, Mounir" uniqKey="Kefi M" first="Mounir" last="Kefi">Mounir Kefi</name></noRegion><name sortKey="Amouri, Rim" sort="Amouri, Rim" uniqKey="Amouri R" first="Rim" last="Amouri">Rim Amouri</name><name sortKey="Euch, Ghada El" sort="Euch, Ghada El" uniqKey="Euch G" first="Ghada El" last="Euch">Ghada El Euch</name><name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Faycal" last="Hentati">Faycal Hentati</name><name sortKey="Sassi, Samia Ben" sort="Sassi, Samia Ben" uniqKey="Sassi S" first="Samia Ben" last="Sassi">Samia Ben Sassi</name><name sortKey="Yahmed, Samia Ben" sort="Yahmed, Samia Ben" uniqKey="Yahmed S" first="Samia Ben" last="Yahmed">Samia Ben Yahmed</name><name sortKey="Zouari, Mourad" sort="Zouari, Mourad" uniqKey="Zouari M" first="Mourad" last="Zouari">Mourad Zouari</name></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Middleton, Lefkos T" sort="Middleton, Lefkos T" uniqKey="Middleton L" first="Lefkos T." last="Middleton">Lefkos T. Middleton</name></region><name sortKey="Gibson, Rachel A" sort="Gibson, Rachel A" uniqKey="Gibson R" first="Rachel A." last="Gibson">Rachel A. Gibson</name><name sortKey="Ishihara Aul, Lianna" sort="Ishihara Aul, Lianna" uniqKey="Ishihara Aul L" first="Lianna" last="Ishihara-Paul">Lianna Ishihara-Paul</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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