ArticleNPJ Parkinson's disease2023
Mutational spectrum and clinical features of GBA1 variants in a Chinese cohort with Parkinson's disease.
Article in NPJ Parkinson's disease, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 22 citations in OpenAlex.
- Interplay of GBA1 with lysosomal dysfunction and inflammation in Parkinson's disease.Neural regeneration research · 2026Article
- Motor and Cognitive Outcome After Subthalamic Nucleus Deep Brain Stimulation in Patients with Parkinson's Disease Harboring GBA1 Variant.Movement disorders clinical practice · 2026Article
- GBA1 F213I mutation increases the expression of LCN2 promoting neurodegeneration.Cell death and differentiation · 2026Article
- The genetic spectrum of LRRK2 variants in Parkinson's disease: findings from a large Chinese cohort.NPJ Parkinson's disease · 2026Article
- Multi-omics insights into GBA1-associated Parkinson's disease: interplay of genomics, transcriptomics, proteomics, and lipidomics.Molecular neurodegeneration · 2026Review
- Urine bis(Monoacylglycerol)Phosphate and risk of freezing of gait in parkinson's disease.Scientific reports · 2026Article
- Survival and related factors in patients with Parkinson's disease: a multicenter prospective cohort study in China.Journal of neurology · 2026Article
- Effect of deep brain stimulation on early-onset Parkinson's disease with mutations in a Han Chinese Mainland population.BMC neurology · 2026Article
- Autophagy-lysosomal pathway in neurodegeneration.Molecular neurodegeneration advances · 2026Review
- Classification of GBA1 variants and their impact on Parkinson's disease: an in silico score analysis.NPJ Parkinson's disease · 2025Article
- Clinical and Genetic Characteristics of Patients with Essential Tremor Who Develop Parkinson's Disease.Medicina (Kaunas, Lithuania) · 2025Article
- A PheWAS approach to identify associations of GBA1 variants with comprehensive phenotypes beyond neurological diseases.NPJ Parkinson's disease · 2025Article
- A Global Perspective ofGenes · 2024Review
- Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease.NPJ Parkinson's disease · 2024Article
- Pathological Involvement of Protein Phase Separation and Aggregation in Neurodegenerative Diseases.International journal of molecular sciences · 2024Review
- Clinical, mechanistic, biomarker, and therapeutic advances in GBA1-associated Parkinson's disease.Translational neurodegeneration · 2024Review
- Review
- GGC expansions in NOTCH2NLC contribute to Parkinson disease and dopaminergic neuron degeneration.European journal of neurology · 2024Article
- A review on Gaucher disease: therapeutic potential of β-glucocerebrosidase-targeted mRNA/saRNA approach.International journal of biological sciences · 2024Review
- Epidemiology of autonomic dysfunction in Parkinson's disease (Review).Medicine internationalReview
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Authors and funding
23 authors at 2 institutions in 1 country.
Funding
Abstract
GBA1 variants are important risk factors for Parkinson's disease (PD). Most studies assessing GBA1-related PD risk have been performed in European-derived populations. Although the coding region of the GBA1 gene in the Chinese population has been analyzed, the sample sizes were not adequate. In this study, we aimed to investigate GBA1 variants in a large Chinese cohort of patients with PD and healthy control and explore the associated clinical characteristics. GBA1 variants in 4034 patients and 2931 control participants were investigated using whole-exome and whole-genome sequencing. The clinical features of patients were evaluated using several scales. Regression analysis, chi-square, and Fisher exact tests were used to analyze GBA1 variants and the clinical symptoms of different groups. We identified 104 variants, including 8 novel variants, expanding the spectrum of GBA1 variants. The frequency of GBA1 variants in patients with PD was 7.46%, higher than that in the control (1.81%) (P < 0.001, odds ratio [OR] = 4.38, 95% confidence interval [CI]: 3.26-5.89). Among patients, 176 (4.36%) had severe variants, 34 (0.84%) carried mild variants, three (0.07%) had risk variants, and 88 (2.18%) carried unknown variants. Our study, for the first time, found that p.G241R (P = 0.007, OR = 15.3, 95% CI: 1.25-261.1) and p.S310G (P = 0.005, OR = 4.86, 95% CI: 1.52-28.04) variants increased the risk of PD. Patients with GBA1 variants exhibited an earlier onset age and higher risk of probable rapid-eye-movement sleep behavior disorder, olfactory dysfunction, depression, and autonomic dysfunction than patients without GBA1 variants.
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Registered trials
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