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The microtubule associated protein tau H 1 haplotype and risk of essential tremor
Author(s) -
Clark L. N.,
Liu X.,
Parmalee N. L.,
Hernandez N.,
Louis E. D.
Publication year - 2014
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/ene.12335
Subject(s) - progressive supranuclear palsy , haplotype , single nucleotide polymorphism , tau protein , medicine , snp , essential tremor , disease , population , genotype , allele , genetics , alzheimer's disease , biology , psychiatry , gene , environmental health
Background and purpose Two recent studies investigated the association of the microtubule associated protein tau ( MAPT ) H 1 haplotype, a known risk factor for neurodegenerative disease including progressive supranuclear palsy and Parkinson's disease ( PD ), with essential tremor ( ET ). Methods To confirm this association in a different population the distribution of allele and genotype frequencies for the MAPT H 1/ H 2 tagging single‐nucleotide polymorphism ( SNP ) rs1052553 in ET cases and controls enrolled in a clinical‐epidemiological study of ET at C olumbia University was analyzed. Results Overall, no association was observed between ET and the MAPT H 1 haplotype. The analysis was also restricted to clinical subtypes including early‐onset (≤40 years of age), Ashkenazi J ewish ancestry, white non‐ A shkenazi, 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 H 1/ H 2 tagging SNP rs1052553 in published data sets and the H 1 haplotype with risk for ET in the current study was also performed and did not find evidence for association. Conclusions The inconsistent reports of association of MAPT H 1 in three emerging studies (our own and two published studies) may reflect sampling issues and/or clinical heterogeneity in these populations.