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Eur J Neurol. 2010 Mar;17(3):483-6. doi: 10.1111/j.1468-1331.2009.02847.x. Epub 2009 Nov 12.

Association of the MAPT locus with Parkinson's disease.

Author information

1
Department of Neuroscience, Mayo Clinic, Molecular Genetics Laboratory and Core, Morris K. Udall Parkinsons Disease Research Center of Excellence, Jacksonville, FL 32224, USA. wider.christian@mayo.edu

Abstract

BACKGROUND AND PURPOSE:

Whilst an association between the tau gene (MAPT)-containing H1 haplotype and supranuclear gaze palsy (PSP) has long been recognized, the effect of H1 on risk for Parkinson's disease (PD) has remained more contentious.

METHODS:

Herein, we examined the association of H1 and PD in three Caucasian PD patient-control series from Ireland, Norway, and the US (combined: n = 2619), by genotyping two H1/H2 single nucleotide polymorphisms (SNPs) in MAPT (rs1052553) and in the Saitohin gene (rs62063857) and one H1-specific SNP (rs242557).

RESULTS:

We identified a significant association between H1/H2 and risk of PD (rs1052553 OR: 1.43, CI: 1.23-1.64; rs62063857 OR: 1.45, CI: 1.27-1.67), but no effect of the H1-specific SNP rs242557 (OR: 0.92, CI: 0.82-1.03).

CONCLUSIONS:

Our findings show that the H1 haplotype is a significant risk factor for PD. However, one H1-specific SNP (rs242557) previously implicated in PSP did not alter the risk of PD, indicating that distinct H1 sub-haplotypes probably drive the associations with PD and PSP.

PMID:
19912324
PMCID:
PMC3906622
DOI:
10.1111/j.1468-1331.2009.02847.x
[Indexed for MEDLINE]
Free PMC Article

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