The microtubule associated protein tau H1 haplotype and risk of essential tremor
Article first published online: 26 DEC 2013
© 2013 The Author(s) European Journal of Neurology © 2013 EAN
European Journal of Neurology
Volume 21, Issue 7, pages 1044–1048, July 2014
How to Cite
Clark, L. N., Liu, X., Parmalee, N. L., Hernandez, N. and Louis, E. D. (2014), The microtubule associated protein tau H1 haplotype and risk of essential tremor. European Journal of Neurology, 21: 1044–1048. doi: 10.1111/ene.12335
- Issue published online: 12 JUN 2014
- Article first published online: 26 DEC 2013
- Manuscript Accepted: 18 NOV 2013
- Manuscript Received: 26 JUN 2013
- National Institutes of Health. Grant Numbers: NINDS #R01 NS042859 PI, NINDS #R01 NS39422 PI, NINDS #T32 NS07153-24 PI, NINDS #R01 NS073872 PI, NINDS #R21 NS077094 CoI, NINDS #R01 NS36630 coI
- Parkinson's Disease Foundation (PI)
- Arlene Bronstein Essential Tremor Research Fund (Columbia University)
- Claire O'Neil Essential Tremor Research Fund (Columbia University)
- NIH. Grant Numbers: R21NS050487 PI, R01NS060113 PI, R01NS0738072 CoPI, P50AG008702 CoI, P50 NS038370 CoI
- the Michael J Fox Foundation (CoI)
- candidate genes;
- case−control study;
- essential tremor;
- microtubule associated protein tau;
- single nucleotide polymorphisms
Background and purpose
Two recent studies investigated the association of the microtubule associated protein tau (MAPT) H1 haplotype, a known risk factor for neurodegenerative disease including progressive supranuclear palsy and Parkinson's disease (PD), with essential tremor (ET).
To confirm this association in a different population the distribution of allele and genotype frequencies for the MAPT H1/H2 tagging single-nucleotide polymorphism (SNP) rs1052553 in ET cases and controls enrolled in a clinical-epidemiological study of ET at Columbia University was analyzed.
Overall, no association was observed between ET and the MAPT H1 haplotype. The analysis was also restricted to clinical subtypes including early-onset (≤40 years of age), Ashkenazi Jewish ancestry, white non-Ashkenazi, or ET cases with a ‘definite’ or ‘probable/possible’ diagnosis; none of these stratified analyses showed evidence of association with ET. A meta-analysis of the H1/H2 tagging SNP rs1052553 in published data sets and the H1 haplotype with risk for ET in the current study was also performed and did not find evidence for association.
The inconsistent reports of association of MAPT H1 in three emerging studies (our own and two published studies) may reflect sampling issues and/or clinical heterogeneity in these populations.