ArticleFrontiers in cellular neuroscience2016
Genetic Architecture of MAPT Gene Region in Parkinson Disease Subtypes.
Article in Frontiers in cellular neuroscience, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 2 of them syntheses that pooled it.
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Who cites it
30 citing papers in PubMed, 2 syntheses or guidelines pooled it, 45 citations in OpenAlex.
- The Genetic Architecture of the Human Corpus Callosum and its Subregions.Nature communications · 2025Pooled it
- Associations of rs823128, rs1572931, and rs823156 polymorphisms with reduced Parkinson's disease risks.Neuroreport · 2017Pooled it
- Integrating dorsolateral prefrontal cortex multi-omics and GWAS summary data reveals genetic etiology of Parkinson's disease.Research square · 2026Article
- Integrating dorsolateral prefrontal cortex multi-omics and GWAS summary data reveals genetic etiology of Parkinson's disease.medRxiv : the preprint server for health sciences · 2026Article
- Motor and non-motor features in progressive supranuclear palsy: the impact of microtubule associated protein tau haplotypes among a Tunisian cohort.Journal of neural transmission (Vienna, Austria : 1996) · 2026Article
- Review
- Chr:17q21.31 locus risk haplotype H1 susceptibility to ferroptosis is mediated by endolysosomal pathway.Cell death & disease · 2025Article
- Inherited Genetic Variation in Parkinson's Disease: Convergence on Impaired Autophagosome-Lysosome Fusion Through the Altered Expression of mRNA Isoforms.Molecular neurobiology · 2025Article
- Genome-wide epistasis analysis reveals significant epistatic signals associated with Parkinson's disease risk.Brain : a journal of neurology · 2025Article
- Differential methylation ofFrontiers in aging neuroscience · 2025Article
- Autophagy related genes polymorphisms in Parkinson's Disease; A systematic review of literature.Clinical parkinsonism & related disorders · 2025Review
- Transcriptomic imputation of genetic risk variants uncovers novel whole-blood biomarkers of Parkinson's disease.NPJ Parkinson's disease · 2024Article
- Article
- Article
- Article
- Prioritizing genes associated with brain disorders by leveraging enhancer-promoter interactions in diverse neural cells and tissues.Genome medicine · 2023Article
- Different MAPT haplotypes influence expression of total MAPT in postmortem brain tissue.Acta neuropathologica communications · 2023Article
- Genetic architecture of Parkinson's disease subtypes - Review of the literature.Frontiers in aging neuroscience · 2022Review
- Neurodevelopment in Children Exposed to ZikaFrontiers in genetics · 2022Review
- Alpha-Synuclein and Cognitive Decline in Parkinson Disease.Life (Basel, Switzerland) · 2021Review
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The microtubule-associated protein tau (MAPT) region has been conceptualized as a model of the interaction between genetics and functional disease outcomes in neurodegenerative disorders, such as Parkinson disease (PD). Indeed, haplotype-specific differences in expression and alternative splicing of MAPT transcripts affect cellular functions at different levels, increasing susceptibility to a range of neurodegenerative processes. In order to evaluate a possible link between MAPT variants, PD risk and PD motor phenotype, we analyzed the genetic architecture of MAPT in a cohort of PD patients. We observed a statistically significant association between the H1 haplotype and PD risk (79.5 vs 69.5%; χ(2) = 9.9; OR, 1.7; 95% CI, 1.2-2.4; p = 0.002). The effect was more evident in non tremor dominant (TD) PD subjects (NTD-PD) (82 vs 69.5%; χ(2) = 13.6; OR, 2.03; 95% CI, 1.4-3; p = 0.0003), while no difference emerged between PD subgroup of tremor dominant patients (TD-PD) and control subjects. Examination of specific intra-H1 variations showed that the H1h subhaplotype was overrepresented in NTD-PD patients compared with controls (p = 0.007; OR, 2.9; 95% CI, 1.3-6.3). Although we cannot exclude that MAPT variation may be associated with ethnicity, our results may support the hypothesis that MAPT H1 clade and a specific H1 subhaplotype influence the risk of PD and modulate the clinical expression of the disease, including motor phenotype.
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Registered trials
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