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Coding variation in GBA explains the majority of the SYT11-GBA Parkinson's disease GWAS locus.GBA基因的编码变异解释了大部分SYT11 - GBA帕金森病全基因组关联研究（GWAS）位点。
Mov Disord. 2018 Nov;33(11):1821-1823. doi: 10.1002/mds.103. Epub 2018 Oct 9.
2
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Glucocerebrosidase mutations influence the natural history of Parkinson's disease in a community-based incident cohort.葡萄糖脑苷脂酶突变影响基于社区的发病队列中帕金森病的自然史。
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Visual short-term memory deficits associated with GBA mutation and Parkinson's disease.与 GBA 突变和帕金森病相关的视觉短期记忆缺陷。
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Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease.帕金森病中五个孟德尔基因及全基因组关联研究中顶级基因的重测序分析。
Mol Neurodegener. 2016 Apr 19;11:29. doi: 10.1186/s13024-016-0097-0.

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Clinical prediction of carrier status in Parkinson's disease.帕金森病携带者状态的临床预测
Clin Park Relat Disord. 2024 Apr 11;10:100251. doi: 10.1016/j.prdoa.2024.100251. eCollection 2024.
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Is T369M not a risk factor for Parkinson's disease in the Swedish population?在瑞典人群中，T369M难道不是帕金森病的一个风险因素吗？
medRxiv. 2024 Mar 16:2024.03.15.24304347. doi: 10.1101/2024.03.15.24304347.
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Role of GBA variants in Lewy body disease neuropathology.GBA 变异在路易体病神经病理学中的作用。
Acta Neuropathol. 2024 Mar 12;147(1):54. doi: 10.1007/s00401-024-02699-w.
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A severe neurodegenerative disease with Lewy bodies and a mutation in the glucocerebrosidase gene.一种伴有路易小体且葡糖脑苷脂酶基因突变的严重神经退行性疾病。
NPJ Parkinsons Dis. 2023 Apr 5;9(1):53. doi: 10.1038/s41531-023-00501-4.
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WHOPPA Enables Parallel Assessment of Leucine-Rich Repeat Kinase 2 and Glucocerebrosidase Enzymatic Activity in Parkinson's Disease Monocytes.WHOPPA可对帕金森病单核细胞中的富含亮氨酸重复激酶2和葡萄糖脑苷脂酶的酶活性进行平行评估。
Front Cell Neurosci. 2022 Jun 9;16:892899. doi: 10.3389/fncel.2022.892899. eCollection 2022.
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Association analysis of SYT11, FGF20, GCH1 rare variants in Parkinson's disease.帕金森病中SYT11、FGF20、GCH1罕见变异的关联分析
CNS Neurosci Ther. 2022 Jan;28(1):175-177. doi: 10.1111/cns.13745. Epub 2021 Oct 21.
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Exploring the Genotype-Phenotype Correlation in -Parkinson Disease: Clinical Aspects, Biomarkers, and Potential Modifiers.探索帕金森病的基因型-表型相关性：临床方面、生物标志物及潜在修饰因素
Front Neurol. 2021 Jun 24;12:694764. doi: 10.3389/fneur.2021.694764. eCollection 2021.
8
Next-Generation Sequencing Analysis of : The Challenge of Detecting Complex Recombinant Alleles.下一代测序分析：检测复杂重组等位基因的挑战
Front Genet. 2021 Jun 21;12:684067. doi: 10.3389/fgene.2021.684067. eCollection 2021.
9
Targeted sequencing of Parkinson's disease loci genes highlights SYT11, FGF20 and other associations.帕金森病基因位点的靶向测序突显了 SYT11、FGF20 等关联。
Brain. 2021 Mar 3;144(2):462-472. doi: 10.1093/brain/awaa401.
10
The SPID-GBA study: Sex distribution, Penetrance, Incidence, and Dementia in GBA-PD.SPID-GBA研究：GBA-PD中的性别分布、外显率、发病率与痴呆症
Neurol Genet. 2020 Oct 20;6(6):e523. doi: 10.1212/NXG.0000000000000523. eCollection 2020 Dec.

本文引用的文献

1
The GBA variant E326K is associated with Parkinson's disease and explains a genome-wide association signal.GBA基因变体E326K与帕金森病相关，并解释了一个全基因组关联信号。
Neurosci Lett. 2017 Sep 29;658:48-52. doi: 10.1016/j.neulet.2017.08.040. Epub 2017 Aug 19.
2
Activation of β-Glucocerebrosidase Reduces Pathological α-Synuclein and Restores Lysosomal Function in Parkinson's Patient Midbrain Neurons.β-葡萄糖脑苷脂酶的激活可减少帕金森病患者中脑神经元的病理性α-突触核蛋白并恢复溶酶体功能。
J Neurosci. 2016 Jul 20;36(29):7693-706. doi: 10.1523/JNEUROSCI.0628-16.2016.
3
NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases.NeuroX，一个用于研究神经退行性疾病的快速高效基因分型平台。
Neurobiol Aging. 2015 Mar;36(3):1605.e7-12. doi: 10.1016/j.neurobiolaging.2014.07.028. Epub 2014 Aug 4.
4
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.全基因组关联数据的大规模荟萃分析确定了帕金森病的六个新风险位点。
Nat Genet. 2014 Sep;46(9):989-93. doi: 10.1038/ng.3043. Epub 2014 Jul 27.
5
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.帕金森病中葡萄糖脑苷脂酶突变的多中心分析。
N Engl J Med. 2009 Oct 22;361(17):1651-61. doi: 10.1056/NEJMoa0901281.
6
Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.阿什肯纳兹犹太人中葡萄糖脑苷脂酶基因突变与帕金森病
N Engl J Med. 2004 Nov 4;351(19):1972-7. doi: 10.1056/NEJMoa033277.

Coding variation in GBA explains the majority of the SYT11-GBA Parkinson's disease GWAS locus.

作者信息

Blauwendraat Cornelis, Bras Jose M, Nalls Mike A, Lewis Patrick A, Hernandez Dena G, Singleton Andrew B

机构信息

Laboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland, USA.

UK Dementia Research Institute at UCL and Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK.

出版信息

Mov Disord. 2018 Nov;33(11):1821-1823. doi: 10.1002/mds.103. Epub 2018 Oct 9.

DOI:10.1002/mds.103
PMID:30302829
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6379910/
Abstract
摘要