ArticleNeurology2008
Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study.
Article in Neurology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers, 1 of them a synthesis that pooled it.
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58 citing papers in PubMed, 1 synthesis or guideline pooled it, 111 citations in OpenAlex.
- Meta-analysis of the association between variants in MAPT and neurodegenerative diseases.Oncotarget · 2017Pooled it
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- Family History in Parkinson's Disease: A National Cross-Sectional Study.Movement disorders clinical practice · 2024Article
- Transcriptomic analysis reveals associations of blood-based A-to-I editing with Parkinson's disease.Journal of neurology · 2024Article
- omicSynth: An open multi-omic community resource for identifying druggable targets across neurodegenerative diseases.American journal of human genetics · 2024Article
- omicSynth: an Open Multi-omic Community Resource for Identifying Druggable Targets across Neurodegenerative Diseases.medRxiv : the preprint server for health sciences · 2023Article
- Different MAPT haplotypes influence expression of total MAPT in postmortem brain tissue.Acta neuropathologica communications · 2023Article
- Genomic architecture and functional effects of potential human inversion supergenes.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2022Review
- Epigenetic Biomarkers as Diagnostic Tools for Neurodegenerative Disorders.International journal of molecular sciences · 2021Article
- A transcriptome-wide association study identifies susceptibility genes for Parkinson's disease.NPJ Parkinson's disease · 2021Article
- Reference SVA insertion polymorphisms are associated with Parkinson's Disease progression and differential gene expression.NPJ Parkinson's disease · 2021Article
- Molecular landscape of long noncoding RNAs in brain disorders.Molecular psychiatry · 2021Review
- Machine Learning Identifies Six Genetic Variants and Alterations in the Heart Atrial Appendage as Key Contributors to PD Risk Predictivity.Frontiers in genetics · 2021Article
- Defining and predicting transdiagnostic categories of neurodegenerative disease.Nature biomedical engineering · 2020Article
- Biological links between traumatic brain injury and Parkinson's disease.Acta neuropathologica communications · 2020Review
- A Specific Diplotype H1j/H2 of the MAPT Gene Could Be Responsible for Parkinson's Disease with Dementia.Case reports in genetics · 2020Article
- Common polymorphic inversions at 17q21.31 and 8p23.1 associate with cancer prognosis.Human genomics · 2019Article
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45 authors at 20 institutions in 7 countries.
Funding
Abstract
backgroundMicrotubule-associated protein tau (MAPT) has been associated with several neurodegenerative disorders including forms of parkinsonism and Parkinson disease (PD). We evaluated the association of the MAPT region with PD in a large cohort of familial PD cases recruited by the GenePD Study. In addition, postmortem brain samples from patients with PD and neurologically normal controls were used to evaluate whether the expression of the 3-repeat and 4-repeat isoforms of MAPT, and neighboring genes Saitohin (STH) and KIAA1267, are altered in PD cerebellum.
methodsTwenty-one single-nucleotide polymorphisms (SNPs) in the region of MAPT on chromosome 17q21 were genotyped in the GenePD Study. Single SNPs and haplotypes, including the H1 haplotype, were evaluated for association to PD. Relative quantification of gene expression was performed using real-time RT-PCR.
resultsAfter adjusting for multiple comparisons, SNP rs1800547 was significantly associated with PD affection. While the H1 haplotype was associated with a significantly increased risk for PD, a novel H1 subhaplotype was identified that predicted a greater increased risk for PD. The expression of 4-repeat MAPT, STH, and KIAA1267 was significantly increased in PD brains relative to controls. No difference in expression was observed for 3-repeat MAPT.
conclusionsThis study supports a role for MAPT in the pathogenesis of familial and idiopathic Parkinson disease (PD). Interestingly, the results of the gene expression studies suggest that other genes in the vicinity of MAPT, specifically STH and KIAA1267, may also have a role in PD and suggest complex effects for the genes in this region on PD risk.
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