Association of the glucocerebrosidase N370S allele with Parkinson’s disease in two separate Chinese Han populations of mainland China
Identifieur interne : 000803 ( Main/Exploration ); précédent : 000802; suivant : 000804Association of the glucocerebrosidase N370S allele with Parkinson’s disease in two separate Chinese Han populations of mainland China
Auteurs : F. Hu ; J. Xi ; J. Guo ; L. Yu ; L. Liu ; X. He ; Z. Liu [République populaire de Chine] ; X. Zou ; Y. XuSource :
- European Journal of Neurology [ 1351-5101 ] ; 2010-12.
Descripteurs français
- Wicri :
- geographic : République populaire de Chine.
English descriptors
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Abstract
Background and purpose: Mutations in the glucocerebrosidase (GBA) gene have been implicated in the development of Parkinson’s disease (PD). However, recent screenings for GBA mutations in PD subjects from different ethnic populations have yielded contradictory results. Methods: We performed a case–control study to look for a possible association between PD and the GBA N370S allele involving 628 subjects in two separate Chinese Han populations from mainland China. All subjects were successfully genotyped by polymerase chain reaction–restriction fragment length polymorphism analysis. Results: A total of six patients with PD and two control subjects carried the N370S allele. Although PD cases (1.8%) had an increased frequency of N370S compared to controls (0.7%), the difference was not statistically significant (P = 0.290). However, when PD cases were stratified by age at onset, a higher frequency of N370S in late‐onset PD (LOPD) cases (3.2%) compared to controls was observed. Conclusions: Our results suggest that the N370S allele might be associated with LOPD in Chinese Han population and that this phenomenon should be further examined in a larger study.
Url:
DOI: 10.1111/j.1468-1331.2010.03097.x
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Liu</name></author><author><name sortKey="Zou, X" sort="Zou, X" uniqKey="Zou X" first="X." last="Zou">X. Zou</name></author><author><name sortKey="Xu, Y" sort="Xu, Y" uniqKey="Xu Y" first="Y." last="Xu">Y. Xu</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:02D234BDF71338E60A5E3020AA90376DBDFE8A80</idno><date when="2010" year="2010">2010</date><idno type="doi">10.1111/j.1468-1331.2010.03097.x</idno><idno type="url">https://api.istex.fr/document/02D234BDF71338E60A5E3020AA90376DBDFE8A80/fulltext/pdf</idno><idno type="wicri:Area/Main/Corpus">000A07</idno><idno type="wicri:Area/Main/Curation">000878</idno><idno type="wicri:Area/Main/Exploration">000803</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Association of the glucocerebrosidase N370S allele with Parkinson’s disease in two separate Chinese Han populations of mainland China</title><author><name sortKey="Hu, F" sort="Hu, F" uniqKey="Hu F" first="F." last="Hu">F. Hu</name><affiliation><wicri:noCountry code="subField">Sichuan Province</wicri:noCountry></affiliation><affiliation><wicri:noCountry code="subField">Hubei Province</wicri:noCountry></affiliation></author><author><name sortKey="Xi, J" sort="Xi, J" uniqKey="Xi J" first="J." last="Xi">J. Xi</name><affiliation><wicri:noCountry code="subField">Sichuan Province</wicri:noCountry></affiliation></author><author><name sortKey="Guo, J" sort="Guo, J" uniqKey="Guo J" first="J." last="Guo">J. Guo</name><affiliation><wicri:noCountry code="subField">Sichuan Province</wicri:noCountry></affiliation></author><author><name sortKey="Yu, L" sort="Yu, L" uniqKey="Yu L" first="L." last="Yu">L. Yu</name><affiliation><wicri:noCountry code="subField">Sichuan Province</wicri:noCountry></affiliation></author><author><name sortKey="Liu, L" sort="Liu, L" uniqKey="Liu L" first="L." last="Liu">L. Liu</name><affiliation><wicri:noCountry code="subField">Sichuan Province</wicri:noCountry></affiliation></author><author><name sortKey="He, X" sort="He, X" uniqKey="He X" first="X." last="He">X. He</name><affiliation><wicri:noCountry code="subField">Sichuan Province</wicri:noCountry></affiliation></author><author><name sortKey="Liu, Z" sort="Liu, Z" uniqKey="Liu Z" first="Z." last="Liu">Z. Liu</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, the First Affiliated Hospital, Sun Yat‐sen University, Guangzhou, Guangdong Province</wicri:regionArea><wicri:noRegion>Guangdong Province</wicri:noRegion></affiliation></author><author><name sortKey="Zou, X" sort="Zou, X" uniqKey="Zou X" first="X." last="Zou">X. Zou</name><affiliation><wicri:noCountry code="subField">Sichuan Province</wicri:noCountry></affiliation></author><author><name sortKey="Xu, Y" sort="Xu, Y" uniqKey="Xu Y" first="Y." last="Xu">Y. Xu</name><affiliation><wicri:noCountry code="subField">Sichuan Province</wicri:noCountry></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="2010-12">2010-12</date><biblScope unit="volume">17</biblScope><biblScope unit="issue">12</biblScope><biblScope unit="page" from="1476">1476</biblScope><biblScope unit="page" to="1478">1478</biblScope></imprint><idno type="ISSN">1351-5101</idno></series><idno type="istex">02D234BDF71338E60A5E3020AA90376DBDFE8A80</idno><idno type="DOI">10.1111/j.1468-1331.2010.03097.x</idno><idno type="ArticleID">ENE3097</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1351-5101</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>China</term><term>N370S</term><term>Parkinson’s disease</term><term>glucocerebrosidase</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">Background and purpose: Mutations in the glucocerebrosidase (GBA) gene have been implicated in the development of Parkinson’s disease (PD). However, recent screenings for GBA mutations in PD subjects from different ethnic populations have yielded contradictory results. Methods: We performed a case–control study to look for a possible association between PD and the GBA N370S allele involving 628 subjects in two separate Chinese Han populations from mainland China. All subjects were successfully genotyped by polymerase chain reaction–restriction fragment length polymorphism analysis. Results: A total of six patients with PD and two control subjects carried the N370S allele. Although PD cases (1.8%) had an increased frequency of N370S compared to controls (0.7%), the difference was not statistically significant (P = 0.290). However, when PD cases were stratified by age at onset, a higher frequency of N370S in late‐onset PD (LOPD) cases (3.2%) compared to controls was observed. Conclusions: Our results suggest that the N370S allele might be associated with LOPD in Chinese Han population and that this phenomenon should be further examined in a larger study.</div></front></TEI><affiliations><list><country><li>République populaire de Chine</li></country></list><tree><noCountry><name sortKey="Guo, J" sort="Guo, J" uniqKey="Guo J" first="J." last="Guo">J. Guo</name><name sortKey="He, X" sort="He, X" uniqKey="He X" first="X." last="He">X. He</name><name sortKey="Hu, F" sort="Hu, F" uniqKey="Hu F" first="F." last="Hu">F. Hu</name><name sortKey="Liu, L" sort="Liu, L" uniqKey="Liu L" first="L." last="Liu">L. Liu</name><name sortKey="Xi, J" sort="Xi, J" uniqKey="Xi J" first="J." last="Xi">J. Xi</name><name sortKey="Xu, Y" sort="Xu, Y" uniqKey="Xu Y" first="Y." last="Xu">Y. Xu</name><name sortKey="Yu, L" sort="Yu, L" uniqKey="Yu L" first="L." last="Yu">L. Yu</name><name sortKey="Zou, X" sort="Zou, X" uniqKey="Zou X" first="X." last="Zou">X. Zou</name></noCountry><country name="République populaire de Chine"><noRegion><name sortKey="Liu, Z" sort="Liu, Z" uniqKey="Liu Z" first="Z." last="Liu">Z. Liu</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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