ArticleJournal of human genetics2015
Mutations in the glucocerebrosidase gene are responsible for Chinese patients with Parkinson's disease.
Article in Journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.
- Association of gender and age at onset with glucocerebrosidase associated Parkinson's disease: a systematic review and meta-analysis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Pooled it
- Rare Variants May Influence Disease Risk and Clinical Features in Sporadic Late-Onset Chinese Parkinson's Disease Patients.International journal of molecular sciences · 2026Article
- GBA1 F213I mutation increases the expression of LCN2 promoting neurodegeneration.Cell death and differentiation · 2026Article
- Two lysosomal genes ATP13A2 and GBA1 interact to drive neurodegeneration.Molecular neurodegeneration · 2026Article
- Article
- A Global Perspective ofGenes · 2024Review
- Clinical, mechanistic, biomarker, and therapeutic advances in GBA1-associated Parkinson's disease.Translational neurodegeneration · 2024Review
- Epigenetic Orchestration of Neurodegenerative Disorders: A Possible Target for Curcumin as a Therapeutic.Neurochemical research · 2024Review
- Gaucher disease provides a unique window into Parkinson disease pathogenesis.Nature reviews. Neurology · 2024Review
- Adult type I Gaucher disease with splenectomy caused by a compound heterozygous GBA1 mutation in a Chinese patient: a case report.Annals of hematology · 2024Article
- The Landscape of Monogenic Parkinson's Disease in Populations of Non-European Ancestry: A Narrative Review.Genes · 2023Review
- Classification of GBA1 Variants in Parkinson's Disease: The GBA1-PD Browser.Movement disorders : official journal of the Movement Disorder Society · 2023Review
- Epigenetic modification in Parkinson's disease.Frontiers in cell and developmental biology · 2023Review
- Prevalence and genotype-phenotype correlations of GBA-related Parkinson disease in a large Chinese cohort.European journal of neurology · 2022Article
- PRINCESS: comprehensive detection of haplotype resolved SNVs, SVs, and methylation.Genome biology · 2021Article
- The interplay of aging, genetics and environmental factors in the pathogenesis of Parkinson's disease.Translational neurodegeneration · 2019Review
- The Association between E326K ofParkinson's disease · 2018Review
- A Meta-Analysis ofParkinson's disease · 2018Review
- Integrated Genetic Analysis of Racial Differences of CommonFrontiers in molecular neuroscience · 2018Article
- The relationship between glucocerebrosidase mutations and Parkinson disease.Journal of neurochemistry · 2016Review
Corrections and comments
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Authors and funding
15 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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.
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