Association of an Extended Haplotype in the Tau Gene with Progressive Supranuclear Palsy

We describe two extended haplotypes that cover the human tau gene. In a total of ∼200 unrelated caucasian individuals there is complete disequilibrium between polymorphisms which span the gene (which covers ∼100 kb of DNA). This suggests that the establishment of the two haplotypes was an ancient event and either that recombination is suppressed in this region, or that recombinant genes are selected against. Furthermore, we show that the more common haplotype (H1) is significantly over-represented in patients with progressive supranuclear palsy (PSP), extending earlier reports of an association between an intronic dinucleotide polymorphism and PSP.