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, Zbigniew K Wszolek, M. J. Farrer, Owen A Ross

Research output: Contribution to journalArticle

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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.

Original languageEnglish (US)
Pages (from-to)483-486
Number of pages4
JournalEuropean Journal of Neurology
Volume17
Issue number3
DOIs
StatePublished - Mar 2010

Fingerprint

Parkinson Disease
Single Nucleotide Polymorphism
Haplotypes
Norway
Ireland
Paralysis
Genes
Primary Spontaneous Pneumothorax

Keywords

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

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Wider, C., Vilariño-Güell, C., Jasinska-Myga, B., Heckman, M. G., Soto-Ortolaza, A. I., Cobb, S. A., ... Ross, O. A. (2010). Association of the MAPT locus with Parkinson's disease. European Journal of Neurology, 17(3), 483-486. https://doi.org/10.1111/j.1468-1331.2009.02847.x

Association of the MAPT locus with Parkinson's disease. / Wider, C.; Vilariño-Güell, C.; Jasinska-Myga, B.; Heckman, M. G.; Soto-Ortolaza, A. I.; Cobb, S. A.; Aasly, J. O.; Gibson, J. M.; Lynch, T.; Uitti, R. J.; Wszolek, Zbigniew K; Farrer, M. J.; Ross, Owen A.

In: European Journal of Neurology, Vol. 17, No. 3, 03.2010, p. 483-486.

Research output: Contribution to journalArticle

Wider, C, Vilariño-Güell, C, Jasinska-Myga, B, Heckman, MG, Soto-Ortolaza, AI, Cobb, SA, Aasly, JO, Gibson, JM, Lynch, T, Uitti, RJ, Wszolek, ZK, Farrer, MJ & Ross, OA 2010, 'Association of the MAPT locus with Parkinson's disease', European Journal of Neurology, vol. 17, no. 3, pp. 483-486. https://doi.org/10.1111/j.1468-1331.2009.02847.x
Wider C, Vilariño-Güell C, Jasinska-Myga B, Heckman MG, Soto-Ortolaza AI, Cobb SA et al. Association of the MAPT locus with Parkinson's disease. European Journal of Neurology. 2010 Mar;17(3):483-486. https://doi.org/10.1111/j.1468-1331.2009.02847.x
Wider, C. ; Vilariño-Güell, C. ; Jasinska-Myga, B. ; Heckman, M. G. ; Soto-Ortolaza, A. I. ; Cobb, S. A. ; Aasly, J. O. ; Gibson, J. M. ; Lynch, T. ; Uitti, R. J. ; Wszolek, Zbigniew K ; Farrer, M. J. ; Ross, Owen A. / Association of the MAPT locus with Parkinson's disease. In: European Journal of Neurology. 2010 ; Vol. 17, No. 3. pp. 483-486.
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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.",
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AU - Jasinska-Myga, B.

AU - Heckman, M. G.

AU - Soto-Ortolaza, A. I.

AU - Cobb, S. A.

AU - Aasly, J. O.

AU - Gibson, J. M.

AU - Lynch, T.

AU - Uitti, R. J.

AU - Wszolek, Zbigniew K

AU - Farrer, M. J.

AU - Ross, Owen A

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N2 - 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.

AB - 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.

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