DOI: 10.1111/j.1468-1331.2009.02847.x. Association of the <i>MAPT</i> locus with Parkinson’s disease

Association of the MAPT locus with Parkinson’s disease

10.1111/j.1468-1331.2009.02847.x

Crossref journal-article

Wiley

European Journal of Neurology (311)

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.

Bibliography

Wider, C., VilariÃ±oâGÃ¼ell, C., JasinskaâMyga, B., Heckman, M. G., SotoâOrtolaza, A. I., Cobb, S. A., Aasly, J. O., Gibson, J. M., Lynch, T., Uitti, R. J., Wszolek, Z. K., Farrer, M. J., & Ross, O. A. (2010). Association of the MAPT locus with Parkinsonâs disease. European Journal of Neurology, 17(3), 483â486. Portico.

Authors 13

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

References 27 Referenced 50

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{'key': 'e_1_2_6_27_2', 'volume-title': 'Resampling‐Based Multiple Testing: Examples and Methods for P‐value Adjustment', 'author': 'Westfall PH', 'year': '1993'} / Resampling‐Based Multiple Testing: Examples and Methods for P‐value Adjustment by Westfall PH (1993)
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Dates

Type	When
Created	15 years, 9 months ago (Nov. 12, 2009, 3:08 a.m.)
Deposited	1 year, 10 months ago (Oct. 15, 2023, 4:53 a.m.)
Indexed	2 months ago (July 2, 2025, 8:35 a.m.)
Issued	15 years, 6 months ago (Feb. 23, 2010)
Published	15 years, 6 months ago (Feb. 23, 2010)
Published Online	15 years, 6 months ago (Feb. 23, 2010)
Published Print	15 years, 6 months ago (March 1, 2010)

Funders 0

None

BibTeX

@article{Wider_2010, title={Association of the MAPT locus with Parkinson’s disease}, volume={17}, ISSN={1468-1331}, url={http://dx.doi.org/10.1111/j.1468-1331.2009.02847.x}, DOI={10.1111/j.1468-1331.2009.02847.x}, number={3}, journal={European Journal of Neurology}, publisher={Wiley}, author={Wider, C. and Vilariño‐Güell, C. and Jasinska‐Myga, B. and Heckman, M. G. and Soto‐Ortolaza, A. I. and Cobb, S. A. and Aasly, J. O. and Gibson, J. M. and Lynch, T. and Uitti, R. J. and Wszolek, Z. K. and Farrer, M. J. and Ross, O. A.}, year={2010}, month=feb, pages={483–486} }

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