Association of the MAPT locus with Parkinson's disease.

European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies
C WiderO A Ross

Abstract

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. 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). 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). 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.

References

Jan 29, 1999·Archives of Neurology·D J GelbS Gilman
Oct 12, 1999·Brain Pathology·D W Dickson
Jul 19, 2001·Brain : a Journal of Neurology·Z K WszolekD W Dickson
Jan 16, 2002·American Journal of Human Genetics·Daniel J SchaidGregory A Poland
Jun 19, 2002·Acta Neuropathologica·John E DudaJohn Q Trojanowski
Apr 26, 2003·Science·Benoit I GiassonVirginia M-Y Lee
Aug 7, 2004·American Journal of Human Genetics·Lisa SkipperMatthew Farrer
Oct 7, 2004·Neuroscience Letters·Whitney EvansJohn Hardy
Jan 18, 2005·Nature Genetics·Hreinn StefanssonKari Stefansson
Jul 8, 2005·Human Molecular Genetics·A J MyersJ Hardy
Nov 30, 2005·Annals of Neurology·John B J KwokPeter R Schofield
May 22, 2007·Annals of Neurology·Cyrus P ZabetianHaydeh Payami
Jul 20, 2007·European Journal of Human Genetics : EJHG·Susan WinklerChristine Klein
Aug 9, 2007·Annals of Neurology·An GorisStephen J Sawcer
Dec 29, 2007·Neurobiology of Aging·Jana VandrovcovaRohan de Silva
Nov 6, 2008·Human Genetics·Nathan PankratzUNKNOWN PSG-PROGENI and GenePD Investigators, Coordinators and Molecular Genetic Laboratories
Jan 24, 2009·Nature Genetics·Michael C ZodyEvan E Eichler

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Citations

Apr 7, 2010·Neurogenetics·Carles Vilariño-GüellMatthew J Farrer
Dec 17, 2010·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·C WiderO A Ross
Feb 1, 2012·Journal of Neurology, Neurosurgery, and Psychiatry·Christian WiderDennis W Dickson
Mar 19, 2013·Current Genetic Medicine Reports·Owen A Ross
Jan 21, 2016·Parkinson's Disease·Johannes LangeJodi Maple-Grødem
Feb 18, 2015·Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society·Monica FederoffAndrew Singleton
Aug 30, 2014·Cellular and Molecular Neurobiology·Ezgi SonmezHalil Atilla Idrisoglu
Aug 22, 2013·Neurobiology of Aging·Michael G HeckmanUNKNOWN Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium
Feb 19, 2013·Parkinsonism & Related Disorders·Joanne TrinhMatthew J Farrer
Dec 31, 2014·Experimental Neurobiology·Edith Sturm, Nadia Stefanova
Sep 19, 2019·Briefings in Functional Genomics·Cemalettin Bekpen, Diethard Tautz
Apr 21, 2019·Neurology·Hortensia Alonso-NavarroFélix Javier Jiménez-Jiménez
Jul 28, 2016·PloS One·Guilherme T ValencaPhilip L De Jager
Mar 11, 2011·Annals of Neurology·Alexis ElbazUNKNOWN Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium
Nov 20, 2012·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·A H V Schapira, E K Tan
Jun 7, 2017·BMC Genomics·Courtney C BabbittGregory A Wray
May 15, 2018·Movement Disorders : Official Journal of the Movement Disorder Society·Jiao LiZiv Gan-Or
Jan 25, 2019·Translational Neurodegeneration·Shen-Zhao LuJia-Wei Zhou

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