Mutations in the glucocerebrosidase gene are responsible for Chinese patients with Parkinson's disease.
Identifieur interne : 000636 ( Main/Merge ); précédent : 000635; suivant : 000637Mutations in the glucocerebrosidase gene are responsible for Chinese patients with Parkinson's disease.
Auteurs : Zhe Yu [République populaire de Chine] ; Ting Wang [République populaire de Chine] ; Jun Xu [République populaire de Chine] ; Wei Wang [République populaire de Chine] ; Guifang Wang [République populaire de Chine] ; Chao Chen [République populaire de Chine] ; Lili Zheng [République populaire de Chine] ; Li Pan [République populaire de Chine] ; Dianrong Gong [République populaire de Chine] ; Xueli Li [République populaire de Chine] ; Huaiqian Qu [République populaire de Chine] ; Fang Li [Canada] ; Bin Zhang [République populaire de Chine] ; Weidong Le [République populaire de Chine] ; Fabin Han [République populaire de Chine]Source :
- Journal of human genetics [ 1435-232X ] ; 2015.
Descripteurs français
- Wicri :
- geographic : République populaire de Chine.
English descriptors
- KwdEn :
- Amino Acid Sequence, Asian Continental Ancestry Group (genetics), Base Sequence, China, Cohort Studies, DNA Mutational Analysis, Female, Gene Frequency, Genetic Predisposition to Disease (ethnology), Genetic Predisposition to Disease (genetics), Glucosylceramidase (genetics), Haplotypes, Humans, Male, Molecular Sequence Data, Mutation, Parkinson Disease (ethnology), Parkinson Disease (genetics), Polymorphism, Single Nucleotide, Risk Factors, Sequence Deletion.
- MESH :
- chemical , genetics : Glucosylceramidase.
- geographic : China.
- ethnology : Genetic Predisposition to Disease, Parkinson Disease.
- genetics : Asian Continental Ancestry Group, Genetic Predisposition to Disease, Parkinson Disease.
- Amino Acid Sequence, Base Sequence, Cohort Studies, DNA Mutational Analysis, Female, Gene Frequency, Haplotypes, Humans, Male, Molecular Sequence Data, Mutation, Polymorphism, Single Nucleotide, Risk Factors, Sequence Deletion.
Abstract
Pathological mutations in the glucocerebrosidase gene (GBA) have been suggested to be associated with Parkinson's disease (PD) in various ethnic populations. Most studies on Chinese PD patients have only screened the N370S and L444P mutations in the GBA gene. To investigate the GBA mutations in Chinese population, we performed complete sequencing of the GBA gene in 184 Chinese PD patients and 130 Chinese control individuals. As a result, we identified three novel and nine reported GBA mutations. The novel mutations include 5-bp deletion (c.334_338delCAGAA), L264I and L314V and the nine reported GBA mutations are R163Q, F213I, E326K, S364S, F347L, V375L, L444P, RecNciI and Q497R. The novel 5-bp deletion (CAGAA) produces a short truncated GBA protein of 142 amino acids, which loses major function domains of the 536 amino acids. Our data also reveals that the frequency of GBA mutations within this Chinese PD cohort was 8.7%, which is significantly higher than 1.54% observed in the Chinese control cohort (χ(2) = 7.22, P = 0.0072; odds ratio (OR) = 6.095, 95% confidence interval of OR = 1.546-24.030). The most common L444P mutation accounts 2.74%, which confer more genetic risk for PD in this Chinese population. In conclusion, novel and known GBA mutations were identified and were found to be associated to PD in this Chinese population.
DOI: 10.1038/jhg.2014.110
PubMed: 25518742
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Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong</wicri:regionArea><wicri:noRegion>Shandong</wicri:noRegion></affiliation></author><author><name sortKey="Xu, Jun" sort="Xu, Jun" uniqKey="Xu J" first="Jun" last="Xu">Jun Xu</name><affiliation wicri:level="1"><nlm:affiliation>1] Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong, China [2] Department of Neurology, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>1] Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong, China [2] Department of Neurology, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong</wicri:regionArea><wicri:noRegion>Shandong</wicri:noRegion></affiliation></author><author><name sortKey="Wang, Wei" sort="Wang, Wei" uniqKey="Wang W" first="Wei" last="Wang">Wei Wang</name><affiliation wicri:level="1"><nlm:affiliation>Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, 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Shandong, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong</wicri:regionArea><wicri:noRegion>Shandong</wicri:noRegion></affiliation></author><author><name sortKey="Zheng, Lili" sort="Zheng, Lili" uniqKey="Zheng L" first="Lili" last="Zheng">Lili Zheng</name><affiliation wicri:level="1"><nlm:affiliation>Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong</wicri:regionArea><wicri:noRegion>Shandong</wicri:noRegion></affiliation></author><author><name sortKey="Pan, Li" sort="Pan, Li" uniqKey="Pan L" first="Li" last="Pan">Li Pan</name><affiliation wicri:level="1"><nlm:affiliation>Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong</wicri:regionArea><wicri:noRegion>Shandong</wicri:noRegion></affiliation></author><author><name sortKey="Gong, Dianrong" sort="Gong, Dianrong" uniqKey="Gong D" first="Dianrong" last="Gong">Dianrong Gong</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong</wicri:regionArea><wicri:noRegion>Shandong</wicri:noRegion></affiliation></author><author><name sortKey="Li, Xueli" sort="Li, Xueli" uniqKey="Li X" first="Xueli" last="Li">Xueli Li</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong</wicri:regionArea><wicri:noRegion>Shandong</wicri:noRegion></affiliation></author><author><name sortKey="Qu, Huaiqian" sort="Qu, Huaiqian" uniqKey="Qu H" first="Huaiqian" last="Qu">Huaiqian Qu</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong</wicri:regionArea><wicri:noRegion>Shandong</wicri:noRegion></affiliation></author><author><name sortKey="Li, Fang" sort="Li, Fang" uniqKey="Li F" first="Fang" last="Li">Fang Li</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medicine, The Ottawa Hospital, University of Ottawa, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medicine, The Ottawa Hospital, University of Ottawa, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Zhang, Bin" sort="Zhang, Bin" uniqKey="Zhang B" first="Bin" last="Zhang">Bin Zhang</name><affiliation wicri:level="1"><nlm:affiliation>Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong</wicri:regionArea><wicri:noRegion>Shandong</wicri:noRegion></affiliation></author><author><name sortKey="Le, Weidong" sort="Le, Weidong" uniqKey="Le W" first="Weidong" last="Le">Weidong Le</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Neurology, Department of Neurology, The Affiliated Reijing Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Institute of Neurology, Department of Neurology, The Affiliated Reijing Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Han, Fabin" sort="Han, Fabin" uniqKey="Han F" first="Fabin" last="Han">Fabin Han</name><affiliation wicri:level="1"><nlm:affiliation>1] Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong, China [2] Department of Neurology, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>1] Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong, China [2] Department of Neurology, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong</wicri:regionArea><wicri:noRegion>Shandong</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2015">2015</date><idno type="RBID">pubmed:25518742</idno><idno type="pmid">25518742</idno><idno type="doi">10.1038/jhg.2014.110</idno><idno type="wicri:Area/PubMed/Corpus">000576</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000576</idno><idno type="wicri:Area/PubMed/Curation">000576</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000576</idno><idno type="wicri:Area/PubMed/Checkpoint">000576</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000576</idno><idno type="wicri:Area/Ncbi/Merge">001A05</idno><idno 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sort="Wang, Ting" uniqKey="Wang T" first="Ting" last="Wang">Ting Wang</name><affiliation wicri:level="1"><nlm:affiliation>Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong</wicri:regionArea><wicri:noRegion>Shandong</wicri:noRegion></affiliation></author><author><name sortKey="Xu, Jun" sort="Xu, Jun" uniqKey="Xu J" first="Jun" last="Xu">Jun Xu</name><affiliation wicri:level="1"><nlm:affiliation>1] Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong, China [2] Department of Neurology, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>1] Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong, China [2] Department of Neurology, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong</wicri:regionArea><wicri:noRegion>Shandong</wicri:noRegion></affiliation></author><author><name sortKey="Wang, Wei" sort="Wang, Wei" uniqKey="Wang W" first="Wei" last="Wang">Wei Wang</name><affiliation wicri:level="1"><nlm:affiliation>Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong</wicri:regionArea><wicri:noRegion>Shandong</wicri:noRegion></affiliation></author><author><name sortKey="Wang, Guifang" sort="Wang, Guifang" uniqKey="Wang G" first="Guifang" last="Wang">Guifang Wang</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong</wicri:regionArea><wicri:noRegion>Shandong</wicri:noRegion></affiliation></author><author><name sortKey="Chen, Chao" sort="Chen, Chao" uniqKey="Chen C" first="Chao" last="Chen">Chao Chen</name><affiliation wicri:level="1"><nlm:affiliation>Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong</wicri:regionArea><wicri:noRegion>Shandong</wicri:noRegion></affiliation></author><author><name sortKey="Zheng, Lili" sort="Zheng, Lili" uniqKey="Zheng L" first="Lili" last="Zheng">Lili Zheng</name><affiliation wicri:level="1"><nlm:affiliation>Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong</wicri:regionArea><wicri:noRegion>Shandong</wicri:noRegion></affiliation></author><author><name sortKey="Pan, Li" sort="Pan, Li" uniqKey="Pan L" first="Li" last="Pan">Li Pan</name><affiliation wicri:level="1"><nlm:affiliation>Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong</wicri:regionArea><wicri:noRegion>Shandong</wicri:noRegion></affiliation></author><author><name sortKey="Gong, Dianrong" sort="Gong, Dianrong" uniqKey="Gong D" first="Dianrong" last="Gong">Dianrong Gong</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong</wicri:regionArea><wicri:noRegion>Shandong</wicri:noRegion></affiliation></author><author><name sortKey="Li, Xueli" sort="Li, Xueli" uniqKey="Li X" first="Xueli" last="Li">Xueli Li</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong</wicri:regionArea><wicri:noRegion>Shandong</wicri:noRegion></affiliation></author><author><name sortKey="Qu, Huaiqian" sort="Qu, Huaiqian" uniqKey="Qu H" first="Huaiqian" last="Qu">Huaiqian Qu</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong</wicri:regionArea><wicri:noRegion>Shandong</wicri:noRegion></affiliation></author><author><name sortKey="Li, Fang" sort="Li, Fang" uniqKey="Li F" first="Fang" last="Li">Fang Li</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medicine, The Ottawa Hospital, University of Ottawa, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medicine, The Ottawa Hospital, University of Ottawa, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Zhang, Bin" sort="Zhang, Bin" uniqKey="Zhang B" first="Bin" last="Zhang">Bin Zhang</name><affiliation wicri:level="1"><nlm:affiliation>Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong</wicri:regionArea><wicri:noRegion>Shandong</wicri:noRegion></affiliation></author><author><name sortKey="Le, Weidong" sort="Le, Weidong" uniqKey="Le W" first="Weidong" last="Le">Weidong Le</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Neurology, Department of Neurology, The Affiliated Reijing Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Institute of Neurology, Department of Neurology, The Affiliated Reijing Hospital, Shanghai Jiaotong University School of Medicine, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Han, Fabin" sort="Han, Fabin" uniqKey="Han F" first="Fabin" last="Han">Fabin Han</name><affiliation wicri:level="1"><nlm:affiliation>1] Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong, China [2] Department of Neurology, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>1] Centre for Stem cells and Regenerative Medicine, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong, China [2] Department of Neurology, The Affiliated Liaocheng Hospital/Liaocheng People's Hospital, Taishan Medical University, Shandong</wicri:regionArea><wicri:noRegion>Shandong</wicri:noRegion></affiliation></author></analytic><series><title level="j">Journal of human genetics</title><idno type="eISSN">1435-232X</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Amino Acid Sequence</term><term>Asian Continental Ancestry Group (genetics)</term><term>Base Sequence</term><term>China</term><term>Cohort Studies</term><term>DNA Mutational Analysis</term><term>Female</term><term>Gene Frequency</term><term>Genetic Predisposition to Disease (ethnology)</term><term>Genetic Predisposition to Disease (genetics)</term><term>Glucosylceramidase (genetics)</term><term>Haplotypes</term><term>Humans</term><term>Male</term><term>Molecular Sequence Data</term><term>Mutation</term><term>Parkinson Disease (ethnology)</term><term>Parkinson Disease (genetics)</term><term>Polymorphism, Single Nucleotide</term><term>Risk Factors</term><term>Sequence Deletion</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Glucosylceramidase</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>China</term></keywords><keywords scheme="MESH" qualifier="ethnology" xml:lang="en"><term>Genetic Predisposition to Disease</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Asian Continental Ancestry Group</term><term>Genetic Predisposition to Disease</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Amino Acid Sequence</term><term>Base Sequence</term><term>Cohort Studies</term><term>DNA Mutational Analysis</term><term>Female</term><term>Gene Frequency</term><term>Haplotypes</term><term>Humans</term><term>Male</term><term>Molecular Sequence Data</term><term>Mutation</term><term>Polymorphism, Single Nucleotide</term><term>Risk Factors</term><term>Sequence Deletion</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>République populaire de Chine</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Pathological mutations in the glucocerebrosidase gene (GBA) have been suggested to be associated with Parkinson's disease (PD) in various ethnic populations. Most studies on Chinese PD patients have only screened the N370S and L444P mutations in the GBA gene. To investigate the GBA mutations in Chinese population, we performed complete sequencing of the GBA gene in 184 Chinese PD patients and 130 Chinese control individuals. As a result, we identified three novel and nine reported GBA mutations. The novel mutations include 5-bp deletion (c.334_338delCAGAA), L264I and L314V and the nine reported GBA mutations are R163Q, F213I, E326K, S364S, F347L, V375L, L444P, RecNciI and Q497R. The novel 5-bp deletion (CAGAA) produces a short truncated GBA protein of 142 amino acids, which loses major function domains of the 536 amino acids. Our data also reveals that the frequency of GBA mutations within this Chinese PD cohort was 8.7%, which is significantly higher than 1.54% observed in the Chinese control cohort (χ(2) = 7.22, P = 0.0072; odds ratio (OR) = 6.095, 95% confidence interval of OR = 1.546-24.030). The most common L444P mutation accounts 2.74%, which confer more genetic risk for PD in this Chinese population. In conclusion, novel and known GBA mutations were identified and were found to be associated to PD in this Chinese population.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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