ArticleParkinsonism & related disorders2024
Genetics of Parkinson's disease heterogeneity: A genome-wide association study of clinical subtypes.
Article in Parkinsonism & related disorders, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Behind the scenes: how the EMILIN/Multimerin family shapes the cancer landscape.The FEBS journal · 2026Review
- Genetic Associations of Parkinson's Disease Clinical, Pathological, and Data-Driven Subtypes.Genes · 2026Article
- Role of insulin-like growth factor-1/2 and related signaling in parkinson's disease.Metabolic brain disease · 2026Review
- Neuroprotection in Parkinson Disease.Neurology and therapy · 2025Review
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Authors and funding
12 authors.
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Abstract
introductionSubstantial heterogeneity between individual patients in the clinical presentation of Parkinson's disease (PD) has led to the classification of distinct PD subtypes. However, genetic susceptibility factors for specific PD subtypes are not well understood. Therefore, the present study aimed to investigate the genetics of PD heterogeneity by performing a genome-wide association study (GWAS) of PD subtypes.
methodsA total of 799 PD patients were included and classified into tremor-dominant (TD) (N = 345), akinetic-rigid (AR) (N = 227), gait-difficulty (GD) (N = 82), and mixed (MX) (N = 145) phenotypic subtypes. After array genotyping and subsequent imputation, a total of 7,918,344 variants were assessed for association with each PD subtype using logistic regression models that were adjusted for age, sex, and the top five principal components of GWAS data.
resultsWe identified one genome-wide significant association (P < 5 × 10
conclusionOur findings indicate that genetic variation may account for part of the clinical heterogeneity of PD. In particular, we found a novel genome-wide significant association between MIR3976HG variation and the AR PD subtype. Replication of these findings will be important in order to better define the genetic architecture of clinical variability in PD disease presentation.
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