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

doi:10.1111/j.1468-1331.2009.02847.x

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

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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 language	English (US)
Pages (from-to)	483-486
Number of pages	4
Journal	European Journal of Neurology
Volume	17
Issue number	3
DOIs	https://doi.org/10.1111/j.1468-1331.2009.02847.x
State	Published - Mar 2010

Keywords

Association studies
Genetics
MAPT
Parkinson's disease

ASJC Scopus subject areas

Neurology
Clinical Neurology

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10.1111/j.1468-1331.2009.02847.x

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title = "Association of the MAPT locus with Parkinson's disease",

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.",

keywords = "Association studies, Genetics, MAPT, Parkinson's disease",

author = "C. Wider and C. Vilari{\~n}o-G{\"u}ell and B. Jasinska-Myga and Heckman, {M. G.} and Soto-Ortolaza, {A. I.} and Cobb, {S. A.} and Aasly, {J. O.} and Gibson, {J. M.} and T. Lynch and Uitti, {R. J.} and Wszolek, {Z. K.} and Farrer, {M. J.} and Ross, {O. A.}",

year = "2010",

month = mar,

doi = "10.1111/j.1468-1331.2009.02847.x",

language = "English (US)",

volume = "17",

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T1 - Association of the MAPT locus with Parkinson's disease

AU - Wider, C.

AU - Vilariño-Güell, C.

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, Z. K.

AU - Farrer, M. J.

AU - Ross, O. A.

PY - 2010/3

Y1 - 2010/3

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.

KW - Association studies

KW - Genetics

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KW - Parkinson's disease

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Association of the MAPT locus with Parkinson's disease

Abstract

Keywords

ASJC Scopus subject areas

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