Strong association of the Saitohin gene Q7 variant with progressive supranuclear palsy.
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.
de Silva
R
R
Reta Lila Weston Institute of Neurological Studies, University College London, Windeyer Building, 46 Cleveland Street, London, W1T 4JF, UK. rsilva@ion.ucl.ac.uk
Hope
A
A
Pittman
A
A
Weale
M E
ME
Morris
H R
HR
Wood
N W
NW
Lees
A J
AJ
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*
C458340:STH protein, human; D016875:tau Proteins