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          Institute: MPI für molekulare Genetik     Collection: Department of Vertebrate Genomics     Display Documents

ID: 552741.0, MPI für molekulare Genetik / Department of Vertebrate Genomics
CALHM1 P86L polymorphism does not alter amyloid-beta or tau in cerebrospinal fluid
Authors:Giedraitis, V.; Glaser, A.; Sarajarvi, T.; Brundin, R.; Gunnarsson, M. D.; Schjeide, B. M.; Tanzi, R. E.; Helisalmi, S.; Pirttila, T.; Kilander, L.; Lannfelt, L.; Soininen, H.; Bertram, L.; Ingelsson, M.; Hiltunen, M.
Date of Publication (YYYY-MM-DD):2010-01-22
Title of Journal:Neuroscience Letters
Journal Abbrev.:Neurosci Lett
Issue / Number:2
Start Page:265
End Page:267
Copyright:© 2010 Elsevier B.V.
Review Status:not specified
Audience:Experts Only
Abstract / Description:Recently, the P86L alteration in CALHM1 (calcium homeostasis modulator-1) was reported to be associated with Alzheimer's disease (AD). Moreover, the risk allele increased amyloid-beta (A beta) levels in conditioned media from cultured cells. Therefore, we hypothesized that CALHM1 P86L may modulate A beta or tau levels in cerebrospinal fluid (CSF). Nearly 200 individuals with AD or other cognitive disorders were included for CSF analysis and CALHM1 genotyping. No significant differences in CSF levels of A beta 42, tau or phospho-tau were found across the various CALHM1 genotypes. In conclusion, we found no evidence that CALHM1 P86L is associated with altered CSF levels of the investigated AD biomarkers.
Free Keywords:Aged; Alzheimer Disease/cerebrospinal fluid/genetics/metabolism; Amyloid beta-Peptides/cerebrospinal fluid/metabolism; Biological Markers/cerebrospinal fluid/metabolism; Calcium Channels/genetics/metabolism; Cognition Disorders/cerebrospinal fluid/genetics/metabolism; Cohort Studies; European Continental Ancestry Group/genetics; Female; Finland; Genotype; Humans; Male; Membrane Glycoproteins/*genetics/metabolism; Peptide Fragments/*cerebrospinal fluid/metabolism; Phosphorylation; *Polymorphism, Genetic; Sequence Analysis, DNA; Sweden; tau Proteins/*cerebrospinal fluid/metabolism
Comment of the Author/Creator:E-mail: mhiltune@uku.fi
External Publication Status:published
Document Type:Article
Communicated by:Hans Lehrach
Affiliations:MPI für molekulare Genetik
External Affiliations:Uppsala University, Department of Public Health/Geriatrics, Rudbeck Laboratory, Uppsala, Sweden
University and University Hospital of Kuopio, Department of Neurology, Kuopio, Finland
Genetics and Aging Research Unit, MassGeneral Institute for Neurodegenerative Disease (MIND), Department of Neurology, Massachusetts General Hospital,
Harvard Medical School, Charlestown, MA, USA
Identifiers:ISSN:1872-7972 (Electronic) [ID No:1]
DOI:10.1016/j.neulett.2009.12.011 [ID No:2]
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