Strong association of the Saitohin gene Q7 variant with progressive supranuclear palsy.
case_control · Level III
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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.
Medical subject headings
- Genetic Linkage
- Polymorphism, Genetic
- Supranuclear Palsy, Progressive
- tau Proteins