H1-MAPT and the Risk for Familial Essential Tremor

Elena García-Martín,Pau Pastor,Julián Benito-León,Carmen Martínez,Tomás López-Alburquerque,Oswaldo Lorenzo-Betancor,Félix Javier Jiménez-Jiménez,Hortensia Alonso-Navarro,José A G Agúndez,Lluis Samaranch,Elena Lorenzo,Christian Wider

doi:10.1371/journal.pone.0041581

Abstract

The most frequent MAPT H1 haplotype is associated with the risk for developing progressive supranuclear palsy and other neurodegenerative diseases such as Parkinson’s disease. A recent report suggests that the MAPT H1 is associated with the risk for developing essential tremor. We wanted to confirm this association in a different population. We analyzed the distribution of allelic and genotype frequencies of rs1052553, which is an H1/H2 SNP, in 200 subjects with familial ET and 291 healthy controls. rs1052553 genotype and allelic frequencies did not differ significantly between subjects with ET and controls and were unrelated with the age at onset of tremor or gender, and with the presence of head, voice, chin, and tongue tremor. Our study suggests that the MAPT H1 rs1052553 is not associated with the risk for developing familial ET in the Spanish population.

Highlights

Essential tremor (ET) is characterized by postural or kinetic 4– 12 Hz tremor involving mainly the hands and forearms, it can affect the head, chin, voice, and other body regions
It has been reported that mutations in the microtubule-associated protein tau gene (MAPT) cause frontotemporal dementia with parkinsonism linked to the chromosome 17 [2]
A recent study been suggested that the Single nucleotide polymorphisms (SNPs) rs1052553, which discriminates between MAPT H1 and H2 haplotypes, is associated with the risk for developing ET, with an odds-ratio of 1.32 (1.03–1.67) [11]

Summary

Introduction

Essential tremor (ET) is characterized by postural or kinetic 4– 12 Hz tremor involving mainly the hands and forearms, it can affect the head, chin, voice, and other body regions. It has been reported that mutations in the microtubule-associated protein tau gene (MAPT) cause frontotemporal dementia with parkinsonism linked to the chromosome 17 [2]. Single nucleotide polymorphisms (SNPs) across a chromosomal region expanding 1.3 Mb of the MAPT H1 haplotype have shown association with the risk for developing Parkinson’s disease (PD) [3,4,5,6,7,8], progressive supranuclear palsy [3,9,10], corticobasal degeneration [3], and multiple system atrophy [11]. A recent study been suggested that the SNP rs1052553, which discriminates between MAPT H1 and H2 haplotypes, is associated with the risk for developing ET, with an odds-ratio of 1.32 (1.03–1.67) [11]. We attempted to replicate this finding in the Spanish population with ET compared with healthy controls

Methods

Results

Conclusion