PAPER

Tau gene and Parkinson’s disease: a case–control study and meta-analysis

D G Healy¹, P M Abou-Sleiman¹, A J Lees^1,3, J P Casas⁴, N Quinn², K Bhatia², A D Hingorani⁴ and N W Wood¹

¹ Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, UK
² Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square
³ Reta LilaWeston Institute for Neurological Studies, University of London
⁴ Centre for Clinical Pharmacology, BHF Laboratories at UCL, London

Correspondence to:
Correspondence to:
Dr Daniel G Healy
Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London WC1N 3BG, UK; n.wood{at}ion.ucl.ac.uk

Objective: To investigate whether the tau H1 haplotype is a genetic risk factor in Parkinson’s disease and to report a meta-analysis on all previously published data

Methods and results: In a sample of 580 patients with Parkinson’s disease and 513 controls there was an increased risk of Parkinson’s disease for both the tau H1 haplotype (p0.0064; odds ratio (OR) 1.34 (95% confidence interval (CI), 1.04 to 1.72)) and the H1H1 genotype (p0.0047; OR 1.42 (1.1 to 1.83)). Under a fixed effect model, the summary OR for this showed that individuals homozygous for the H1 allele were 1.57 times more likely to develop Parkinson’s disease than individuals carrying the H2 allele (95% CI 1.33 to 1.85; p<0.00001). The population attributable risk for the tau variant, for the main comparison of H1H1 against H2 carriers, was 24.8% for all studies combined.

Conclusions: Homozygosity for the tau H1 is associated with an increased risk of Parkinson’s disease. This adds to the growing body of evidence that common genetic variation contributes to the pathogenesis of this disorder.

Abbreviations: FPD, familial Parkinson’s disease; LD, linkage disequilibrium; PSP, progressive supranuclear palsy; YOPD, young onset Parkinson’s disease

Keywords: Parkinson’s disease; H1 haplotype; meta-analysis

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