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

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

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

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

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 identified by ranking all SNPs by their probe-intensity difference between cohorts. The MAPT H1 haplotype was strongly detected by this methodology, as was a second major locus on chromosome 11p12-p11 that showed evidence of association at allelic (P<.001), genotypic (P<.001), and haplotypic (P<.001) levels and was narrowed to a single haplotype block containing the DNA damage-binding protein 2 (DDB2) and lysosomal acid phosphatase 2 (ACP2) genes. Since DNA damage and lysosomal dysfunction have been implicated in aging and neurodegenerative processes, both genes are viable candidates for conferring risk of disease.

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

S Melquist,DW Craig,MJ Huentelman,R Crook,JV Pearson,M Baker,VL Zismann,J Gass,J Adamson,S Szelinger,J Corneveaux,A Cannon,KD Coon,S Lincoln,C Adler,P Tuite,DB Calne,EH Bigio,RJ Uitti,ZK Wszolek,LI Golbe,RJ Caselli,N Graff-Radford,I Litvan,MJ Farrer,DW Dickson,M Hutton,DA Stephan,

For similar nervous system diseases: central nervous system diseases: brain diseases: basal ganglia diseases: supranuclear palsy, progressive research abstracts see: nervous system diseases: central nervous system diseases: brain diseases: basal ganglia diseases: supranuclear palsy, progressive research

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

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: American journal of human genetics

VOLUME: 80

Page Numbers: 769-78

Journal Abbreviation: Am. J. Hum. Genet.

ISSN: 0002-9297

DAY: 8

MONTH: 03

YEAR: 2007

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

Number of References:

LANGUAGE: eng

NlmUniqueID: 370475

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

KEYWORDS: Supranuclear Palsy, Progressive

MESH TERMS: genetics

Chemical & Substance for Abstract: Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms. Information

Substance Name: Acid Phosphatase

Registry Number: EC 3.1.3.2

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

AFFILIATION: Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA.

Country: United States

AGENCY: United States NIA

GRANT: P01 AG 17216

ACRONYM: AG

MEDLINETA: Am J Hum Genet

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