Association of the MAPT locus with Parkinson's disease

C. Wider, C. Vilariño-Güell, B. Jasinska-Myga, M. G. Heckman, A. I. Soto-Ortolaza, S. A. Cobb, J. O. Aasly, J. M. Gibson, T. Lynch, R. J. Uitti, Z. K. Wszolek, M. J. Farrer, O. A. Ross

Research output: Contribution to journalArticlepeer-review

42 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)483-486
Number of pages4
JournalEuropean Journal of Neurology
Issue number3
StatePublished - Mar 2010


  • Association studies
  • Genetics
  • MAPT
  • Parkinson's disease

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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