Association of an Extended Haplotype in the Tau Gene with Progressive Supranuclear Palsy
Abstract
We describe two extended haplotypes that cover the human tau gene. In a total of approximately 200 unrelated caucasian individuals there is complete disequilibrium between polymorphisms which span the gene (which covers approximately 100 kb of DNA). This suggests that the establishment of the two haplotypes was an ancient event and either that recombination is suppressed in this region, or that recombinant genes are selected against. Furthermore, we show that the more common haplotype (H1) is significantly over-represented in patients with progressive supranuclear palsy (PSP), extending earlier reports of an association between an intronic dinucleotide polymorphism and PSP.
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Genetic association studies of PSP have repeatedly shown increased risk for individuals carrying the H1 MAPT haplotype at chromosome 17q21.
“yet genetic association studies of PSP have repeatedly shown an increased risk for individuals carrying the H1 MAPT haplotype at chromosome 17q21 (refs 11, 12, 13, 14).”
From Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy (2015) · cites this paper as [11]
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- Authors
- Baker, M., Litvan, I., Houlden, H., Adamson, J., Dickson, D., Perez-Tur, J., Hardy, J., Lynch, T., Bigio, E., & Hutton, M.
- Affiliations
- Mayo Clinic (US)
- National Institutes of Health (US)
- The University of Texas Southwestern Medical Center (US)
- University College Dublin (IE)
- Corresponding author
- Hutton, M.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 1999-04-01
- Volume
- 8
- Issue
- 4
- Pages
- 711-715
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2143604549
- Cited by
- 781
- References
- 2
- Citations by year
- 2026: 3 · 2025: 19 · 2024: 27 · 2023: 13 · 2022: 8 · 2021: 18 · 2020: 18 · 2019: 24 · 2018: 21 · 2017: 23 · 2016: 19 · 2015: 26 · 2014: 28 · 2013: 24 · 2012: 32
- FWCI
- 24.41
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- HighWire Press Open Archive (submittedVersion)
- Funders
- National Institutes of Health (5r01ns037143-03)
- National Institute on Aging (U24AG021886)
- National Institute of Neurological Disorders and Stroke (R01 NS37143-01)
- Topics
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Neurology › Parkinson's Disease Mechanisms and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- tau gene, progressive supranuclear palsy, extended haplotypes, genetic association, recombination suppression
- MeSH terms
- Aged, Alleles, DNA Mutational Analysis, Exons, Gene Frequency, Genotype, Haplotypes, Humans, Middle Aged, Polymorphism, Genetic, Supranuclear Palsy, Progressive, tau Proteins
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