LRRK2 Gly2385Arg variant is a risk factor of Parkinson’s disease among Han‐Chinese from mainland China
Identifieur interne : 000D67 ( Main/Exploration ); précédent : 000D66; suivant : 000D68LRRK2 Gly2385Arg variant is a risk factor of Parkinson’s disease among Han‐Chinese from mainland China
Auteurs : X. An [République populaire de Chine] ; R. Peng [République populaire de Chine] ; T. Li [République populaire de Chine, Royaume-Uni] ; J. Burgunder [République populaire de Chine, Singapour] ; Y. Wu [République populaire de Chine] ; W. Chen [République populaire de Chine] ; J. Zhang [République populaire de Chine] ; Y. Wang [République populaire de Chine] ; Y. Xu [République populaire de Chine] ; Y. Gou [République populaire de Chine] ; G. Yuan [République populaire de Chine] ; Z. Zhang [République populaire de Chine]Source :
- European Journal of Neurology [ 1351-5101 ] ; 2008-03.
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- geographic : République populaire de Chine.
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Abstract
Mutations in the gene encoding Leucine‐rich repeat kinase 2 (LRRK2) have been recently linked with autosomal‐dominant parkinsonism, and polymorphisms have been commonly associated with sporadic Parkinson’s disease (PD). A p.2385G>R variant has been reported as a risk factor for PD in Taiwan, Singapore and Japan. Herein, we have assessed the frequency of this polymorphism among the ethnic Han‐Chinese population in a case–control study. A total of 600 patients with PD and 334 unrelated healthy controls were genotyped using PCR‐restriction fragment length polymorphism analysis. Hardy–Weinberg equilibrium of each group was calculated, and differences in genotype frequencies between groups were assessed by the Chi‐square test. In the PD cohort, 70 patients (11.7%) were heterozygous and 1 (0.2%) was homozygous for the p.2385G>R variant. This was significantly more frequent than in the controls [3.3%, Odds ratio = 3.9, 95% confidence interval (CI) = 2.1–7.5, P < 0.01]. Clinically, the age of PD onset of the p.2385G>R carriers was lower than the non‐carriers (P = 0.01). Our study indicates that this LRRK2 p.2385G>R substitution contributes to the development of PD in ethnic Han‐Chinese population, which may play important implications for future study on molecular genetics and pathogenesis of PD.
Url:
DOI: 10.1111/j.1468-1331.2007.02052.x
Affiliations:
- Royaume-Uni, République populaire de Chine, Singapour
- Angleterre, Grand Londres
- Londres
- Université nationale de Singapour
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Wu</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, West China Hospital, Sichuan University, Chengdu</wicri:regionArea><wicri:noRegion>Chengdu</wicri:noRegion></affiliation></author><author><name sortKey="Chen, W" sort="Chen, W" uniqKey="Chen W" first="W." last="Chen">W. Chen</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, West China Hospital, Sichuan University, Chengdu</wicri:regionArea><wicri:noRegion>Chengdu</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, Provincial Hospital, Shanxi</wicri:regionArea><wicri:noRegion>Shanxi</wicri:noRegion></affiliation></author><author><name sortKey="Zhang, J" sort="Zhang, J" uniqKey="Zhang J" first="J." last="Zhang">J. Zhang</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, West China Hospital, Sichuan University, Chengdu</wicri:regionArea><wicri:noRegion>Chengdu</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Internal Medicine, Wangjiang Hospital, Sichuan University, Chengdu</wicri:regionArea><wicri:noRegion>Chengdu</wicri:noRegion></affiliation></author><author><name sortKey="Wang, Y" sort="Wang, Y" uniqKey="Wang Y" first="Y." last="Wang">Y. Wang</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Psychiatry, West China Hospital, Sichuan University, Chengdu</wicri:regionArea><wicri:noRegion>Chengdu</wicri:noRegion></affiliation></author><author><name sortKey="Xu, Y" sort="Xu, Y" uniqKey="Xu Y" first="Y." last="Xu">Y. Xu</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, West China Hospital, Sichuan University, Chengdu</wicri:regionArea><wicri:noRegion>Chengdu</wicri:noRegion></affiliation></author><author><name sortKey="Gou, Y" sort="Gou, Y" uniqKey="Gou Y" first="Y." last="Gou">Y. Gou</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, West China Hospital, Sichuan University, Chengdu</wicri:regionArea><wicri:noRegion>Chengdu</wicri:noRegion></affiliation></author><author><name sortKey="Yuan, G" sort="Yuan, G" uniqKey="Yuan G" first="G." last="Yuan">G. 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Zhang</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, West China Hospital, Sichuan University, Chengdu</wicri:regionArea><wicri:noRegion>Chengdu</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">European Journal of Neurology</title><idno type="ISSN">1351-5101</idno><idno type="eISSN">1468-1331</idno><imprint><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2008-03">2008-03</date><biblScope unit="volume">15</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="301">301</biblScope><biblScope unit="page" to="305">305</biblScope></imprint><idno type="ISSN">1351-5101</idno></series><idno type="istex">9E41D751F7FAB5885BC48E9F00616DC8F9181E0A</idno><idno type="DOI">10.1111/j.1468-1331.2007.02052.x</idno><idno type="ArticleID">ENE2052</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1351-5101</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>China</term><term>G2385R</term><term>LRRK2</term><term>Parkinson’s disease</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>République populaire de Chine</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the gene encoding Leucine‐rich repeat kinase 2 (LRRK2) have been recently linked with autosomal‐dominant parkinsonism, and polymorphisms have been commonly associated with sporadic Parkinson’s disease (PD). A p.2385G>R variant has been reported as a risk factor for PD in Taiwan, Singapore and Japan. Herein, we have assessed the frequency of this polymorphism among the ethnic Han‐Chinese population in a case–control study. A total of 600 patients with PD and 334 unrelated healthy controls were genotyped using PCR‐restriction fragment length polymorphism analysis. Hardy–Weinberg equilibrium of each group was calculated, and differences in genotype frequencies between groups were assessed by the Chi‐square test. In the PD cohort, 70 patients (11.7%) were heterozygous and 1 (0.2%) was homozygous for the p.2385G>R variant. This was significantly more frequent than in the controls [3.3%, Odds ratio = 3.9, 95% confidence interval (CI) = 2.1–7.5, P < 0.01]. Clinically, the age of PD onset of the p.2385G>R carriers was lower than the non‐carriers (P = 0.01). Our study indicates that this LRRK2 p.2385G>R substitution contributes to the development of PD in ethnic Han‐Chinese population, which may play important implications for future study on molecular genetics and pathogenesis of PD.</div></front></TEI><affiliations><list><country><li>Royaume-Uni</li><li>République populaire de Chine</li><li>Singapour</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement><orgName><li>Université nationale de Singapour</li></orgName></list><tree><country name="République populaire de Chine"><noRegion><name sortKey="An, X" sort="An, X" uniqKey="An X" first="X." last="An">X. An</name></noRegion><name sortKey="Burgunder, J" sort="Burgunder, J" uniqKey="Burgunder J" first="J." last="Burgunder">J. Burgunder</name><name sortKey="Chen, W" sort="Chen, W" uniqKey="Chen W" first="W." last="Chen">W. Chen</name><name sortKey="Chen, W" sort="Chen, W" uniqKey="Chen W" first="W." last="Chen">W. Chen</name><name sortKey="Gou, Y" sort="Gou, Y" uniqKey="Gou Y" first="Y." last="Gou">Y. Gou</name><name sortKey="Li, T" sort="Li, T" uniqKey="Li T" first="T." last="Li">T. Li</name><name sortKey="Peng, R" sort="Peng, R" uniqKey="Peng R" first="R." last="Peng">R. Peng</name><name sortKey="Wang, Y" sort="Wang, Y" uniqKey="Wang Y" first="Y." last="Wang">Y. Wang</name><name sortKey="Wu, Y" sort="Wu, Y" uniqKey="Wu Y" first="Y." last="Wu">Y. Wu</name><name sortKey="Xu, Y" sort="Xu, Y" uniqKey="Xu Y" first="Y." last="Xu">Y. Xu</name><name sortKey="Yuan, G" sort="Yuan, G" uniqKey="Yuan G" first="G." last="Yuan">G. Yuan</name><name sortKey="Zhang, J" sort="Zhang, J" uniqKey="Zhang J" first="J." last="Zhang">J. Zhang</name><name sortKey="Zhang, J" sort="Zhang, J" uniqKey="Zhang J" first="J." last="Zhang">J. Zhang</name><name sortKey="Zhang, Z" sort="Zhang, Z" uniqKey="Zhang Z" first="Z." last="Zhang">Z. Zhang</name></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Li, T" sort="Li, T" uniqKey="Li T" first="T." last="Li">T. Li</name></region></country><country name="Singapour"><noRegion><name sortKey="Burgunder, J" sort="Burgunder, J" uniqKey="Burgunder J" first="J." last="Burgunder">J. Burgunder</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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