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PMID: 12913211 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Strong association of the Saitohin gene Q7 variant with progressive supranuclear palsy.

Neurology ·Vol. 61 ·No. 3 ·2003-08-12 ·Pages 407-9

de Silva R, Hope A, Pittman A, Weale ME, Morris HR, Wood NW, Lees AJ

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.

MeSH Terms

Aged Case-Control Studies DNA Mutational Analysis Europe Gene Frequency Genetic Linkage Genotype Haplotypes Humans Introns/genetics Polymorphism, Genetic Polymorphism, Restriction Fragment Length Supranuclear Palsy, Progressive/genetics Whites/genetics tau Proteins/genetics

Chemicals

STH protein, human tau Proteins

Authors & Affiliations

7 authors, click to expand affiliations / ORCID

de Silva R

Reta Lila Weston Institute of Neurological Studies, University College London, Windeyer Building, 46 Cleveland Street, London, W1T 4JF, UK. [email protected]

Hope A

Pittman A

Weale M E

Morris H R

Wood N W

Lees A J

Article Info

Journal

Neurology

Abbr.

Neurology

ISSN

1526-632X

DOI

10.1212/01.wnl.0000073140.25533.90

[email protected]

Published

2003-08-12

Pages

407-9

Language

English

Region

United States

NLM ID

0401060

Subset

External Links

PubMed source DOI: 10.1212/01.wnl.0000073140.25533.90 View journal details

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Strong association of the Saitohin gene Q7 variant with progressive supranuclear palsy.

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