title: Strong association of the Saitohin gene Q7 variant with progressive supranuclear palsy.
abstract: Recent reports are inconclusive in showing that the Q7R polymorphism of the novel Saitohin gene, nested in intron 9 of the tau gene, is associated with AD. The authors show that this polymorphism is in complete linkage disequilibrium with the extended tau H1/H2 haplotype and that the Q variant and QQ genotype of Q7R are strongly associated with progressive supranuclear palsy, implicating it as a possibly important pathogenic candidate.
authors.affiliation: Reta Lila Weston Institute of Neurological Studies, University College London, Windeyer Building, 46 Cleveland Street, London, W1T 4JF, UK. rsilva@ion.ucl.ac.uk
authors.forename: R
authors.initials: R
authors.lastname: de Silva
authors.forename: A
authors.initials: A
authors.lastname: Hope
authors.forename: A
authors.initials: A
authors.lastname: Pittman
authors.forename: M E
authors.initials: ME
authors.lastname: Weale
authors.forename: H R
authors.initials: HR
authors.lastname: Morris
authors.forename: N W
authors.initials: NW
authors.lastname: Wood
authors.forename: A J
authors.initials: AJ
authors.lastname: Lees
mesh_terms: D000368:Aged; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005060:Europe; D005787:Gene Frequency; D008040:Genetic Linkage; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007438:Introns / Q000235:genetics; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D013494:Supranuclear Palsy, Progressive / Q000235:genetics*; D044465:White People / Q000235:genetics; D016875:tau Proteins / Q000235:genetics*
chemical_list: C458340:STH protein, human; D016875:tau Proteins