Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms.

doi:10.1086/513320

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Article

Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms.

American journal of human genetics - 1 Apr 2007

Melquist Stacey, Craig David W, Huentelman Matthew J, Crook Richard, Pearson John V, Baker Matt, Zismann Victoria L, Gass Jennifer, Adamson Jennifer, Szelinger Szabolcs, Corneveaux Jason, Cannon Ashley, Coon Keith D, Lincoln Sarah, Adler Charles, Tuite Paul, Calne Donald B, Bigio Eileen H, Uitti Ryan J, Wszolek Zbigniew K, Golbe Lawrence I, Caselli Richard J, Graff-Radford Neill, Litvan Irene, Farrer Matthew J, Dickson Dennis W, Hutton Mike, Stephan Dietrich A

Abstract excerpt

To date, only the H1 MAPT haplotype has been consistently associated with risk of developing the neurodegenerative disease progressive supranuclear palsy (PSP). We hypothesized that additional genetic loci may be involved in conferring risk of PSP that could be identified through a pooling-based genomewide association study of >500,000 SNPs. Candidate SNPs with large differences in allelic frequency were...

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Identifiers

PMID: 17357082
DOI: 10.1086/513320
PMCID: PMC1852701

Genes

MAPT
ACP2
DDB2

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