ArticleParkinsonism & related disorders2020
Screening non-MAPT genes of the Chr17q21 H1 haplotype in Parkinson's disease.
Article in Parkinsonism & related disorders, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 17 citations in OpenAlex.
- Long-read sequencing maps transposable element variation and its regulatory and epigenetic effects in the human brain.bioRxiv : the preprint server for biology · 2026Article
- Disease-predominant loci across Alzheimer's disease, Parkinson's disease and Lewy body dementia: evidence from the UK Biobank prospective cohort, conditional GWAS and colocalization.Frontiers in genetics · 2026Article
- Evolutionary hotspots of structural variation drive inter-individual differences in the expression of fusion transcripts in the human brain.Nucleic acids research · 2025Article
- Genetic architectures of the human hippocampus and those involved in neuropsychiatric traits.BMC medicine · 2024Article
- Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases.Molecular neurodegeneration · 2024Review
- Joint-tissue integrative analysis identifies high-risk genes for Parkinson's disease.Frontiers in neuroscience · 2024Article
- The non-specific lethal complex regulates genes and pathways genetically linked to Parkinson's disease.Brain : a journal of neurology · 2023Article
- Genetic overlap between cortical brain morphometry and frontotemporal dementia risk.Cerebral cortex (New York, N.Y. : 1991) · 2023Article
- Retrotransposon insertions associated with risk of neurologic and psychiatric diseases.EMBO reports · 2023Article
- Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at 16q11.2 and MAPT H1 loci.Brain : a journal of neurology · 2022Article
- Whole-exome Sequencing Analysis of a Japanese Patient With Hyperinsulinemia and Liver Dysfunction.Journal of the Endocrine Society · 2022Article
- Tau and MAPT genetics in tauopathies and synucleinopathies.Parkinsonism & related disorders · 2021Review
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Authors and funding
14 authors at 4 institutions in 2 countries.
Funding
Abstract
introductionThe microtubule-associated protein tau (MAPT) gene is considered a strong genetic risk factor for Parkinson's disease (PD) in Caucasians. MAPT is located within an inversion region of high linkage disequilibrium designated as H1 and H2 haplotype, and contains eight other genes which have been implicated in neurodegeneration. The aim of the current study was to identify common coding variants in strong linkage disequilibrium (LD) within the associated loci on chr17q21 harboring MAPT.
methodsSanger sequencing of coding exons in 90 Caucasian late-onset PD (LOPD) patients was performed. Specific gene sequencing for LRRC37A, LRRC37A2, ARL17A and ARL17B was not possible given the high homology, presence of pseudogenes and copy number variants that are in the region, and therefore four genes (NSF, KANSL1, SPPL2C, and CRHR1) were included in the analysis. Coding variants from these four genes that did not perfectly tag (r
resultsIn the 90 LOPD cases we identified 30 coding variants. Eleven non-synonymous variants tagged the MAPT H1/H2 haplotype, including two SPPL2C variants (rs12185233 and rs12373123) that had high pathogenic combined annotation dependent depletion (CADD) scores of >20. In the replication series, the non-synonymous KANSL1 rs17585974 variant was in very strong LD with MAPT H1/H2 and had a high CADD score of 24.7.
conclusionWe have identified several non-synonymous variants across neighboring genes of MAPT that may warrant further genetic and functional investigation within the biological etiology of PD.
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