ArticleAnnals of human genetics2011
Replication of GWAS associations for GAK and MAPT in Parkinson's disease.
Article in Annals of human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 3 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
36 citing papers in PubMed, 3 syntheses or guidelines pooled it, 62 citations in OpenAlex.
- Association of LRRK2 R1628P variant with Parkinson's disease in Ethnic Han-Chinese and subgroup population.Scientific reports · 2016Pooled it
- GWAS-linked GAK locus in Parkinson's disease in Han Chinese and meta-analysis.Human genetics · 2012Pooled it
- Gene expression profiles in Parkinson disease prefrontal cortex implicate FOXO1 and genes under its transcriptional regulation.PLoS genetics · 2012Pooled it
- GAK antagonises ROCK-dependent regulation of actomyosin dynamics.Journal of cell science · 2026Article
- Clathrin-mediated endocytosis as an axis for the etiopathogenesis of Parkinson's disease.Journal of cell science · 2026Review
- Identifying Druggable Inflammatory Proteins Causally Contributing to Parkinson's Disease.Brain and behavior · 2025Article
- Protein kinases in neurodegenerative diseases: current understandings and implications for drug discovery.Signal transduction and targeted therapy · 2025Review
- Article
- Cyclin-G-associated kinase GAK/dAux regulates autophagy initiation via ULK1/Atg1 in glia.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Tau in the Pathophysiology of Parkinson's Disease.Journal of molecular neuroscience : MN · 2021Review
- Targeted disruption of GAK stagnates autophagic flux by disturbing lysosomal dynamics.International journal of molecular medicine · 2021Article
- Modelling the functional genomics of Parkinson's disease in Caenorhabditis elegans: LRRK2 and beyond.Bioscience reports · 2021Review
- The Current State-of-the Art of LRRK2-Based Biomarker Assay Development in Parkinson's Disease.Frontiers in neuroscience · 2020Review
- Chemical genetic identification of GAK substrates reveals its role in regulating NaLife science alliance · 2018Article
- Review
- Genetic risk factors in Parkinson's disease.Cell and tissue research · 2018Review
- Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study.Nature communications · 2018Article
- Identification and Optimization of 4-Anilinoquinolines as Inhibitors of Cyclin G Associated Kinase.ChemMedChem · 2018Article
- The Potential Mutation of GAK Gene in the Typical Sporadic Parkinson's Disease from the Han Population of Chinese Mainland.Molecular neurobiology · 2016Article
- APOE, MAPT, and COMT and Parkinson's Disease Susceptibility and Cognitive Symptom Progression.Journal of Parkinson's disease · 2016Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
In the investigation of disease aetiology, the genome-wide association study (GWAS) provides a hypothesis-free investigation of the broader human genome and, as with all scientific investigations, replication is essential to validate any findings. To date, six GWAS have been performed to investigate the influence of common genetic variation in Parkinson's disease (PD) and only two associations have been replicated: alpha synuclein (SNCA) and microtubule-associated protein tau (MAPT), both PD candidate genes before GWAS. In our population-based study, we genotyped four of the top single-nucleotide polymorphisms (SNPs) from a previous study. By using the identical analytic method and genetic model in our independent sample, we provide evidence for replication of rs1724425 near MAPT (OR = 0.74, P= 0.0163) and rs1564282 in cyclin G-associated kinase (GAK; OR = 1.61, P= 0.0151); rs3775478 of multimerin 1 (MMRN1) (P= 0.30) and rs356229 of SNCA (P= 0.14) did not replicate in our study population. While MAPT has been considered a PD candidate gene and has been observed in association with PD in other GWAS, GAK is a new candidate for investigation in future studies.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.