PloS one, 2011-02, Vol.6 (2), p.e15918-e15918
2011
Details
- Autor(en) / Beteiligte
- Titel
- Fine mapping of genetic variants in BIN1, CLU, CR1 and PICALM for association with cerebrospinal fluid biomarkers for Alzheimer's disease
- Ist Teil von
- PloS one, 2011-02, Vol.6 (2), p.e15918-e15918
- Ort / Verlag
- United States: Public Library of Science
- Erscheinungsjahr
- 2011
- Link zum Volltext
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- Recent genome-wide association studies of Alzheimer's disease (AD) have identified variants in BIN1, CLU, CR1 and PICALM that show replicable association with risk for disease. We have thoroughly sampled common variation in these genes, genotyping 355 variants in over 600 individuals for whom measurements of two AD biomarkers, cerebrospinal fluid (CSF) 42 amino acid amyloid beta fragments (Aβ(42)) and tau phosphorylated at threonine 181 (ptau(181)), have been obtained. Association analyses were performed to determine whether variants in BIN1, CLU, CR1 or PICALM are associated with changes in the CSF levels of these biomarkers. Despite adequate power to detect effects as small as a 1.05 fold difference, we have failed to detect evidence for association between SNPs in these genes and CSF Aβ(42) or ptau(181) levels in our sample. Our results suggest that these variants do not affect risk via a mechanism that results in a strong additive effect on CSF levels of Aβ(42) or ptau(181).
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1932-6203eISSN: 1932-6203DOI: 10.1371/journal.pone.0015918Titel-ID: cdi_plos_journals_1292172405
- Format
- –
- Schlagworte
- 80 and over, Adaptor Proteins, Adaptor Proteins, Signal Transducing - genetics, Advertising executives, Aged, Aged, 80 and over, Alzheimer Disease, Alzheimer Disease - cerebrospinal fluid, Alzheimer Disease - genetics, Alzheimer's disease, Alzheimers disease, Amino acids, Amyloid beta-Peptides, Amyloid beta-Peptides - cerebrospinal fluid, Apolipoproteins, B cells, Biological Markers, Biology, Biomarkers, Biomarkers - cerebrospinal fluid, Cerebrospinal fluid, chemistry, Clusterin, Clusterin - genetics, Complement 3b, Development and progression, Eigenvalues, Female, Gene mapping, Genes, Genetic diversity, Genetic Predisposition to Disease, Genetic Predisposition to Disease - genetics, Genetic variance, genetics, Genome-wide association studies, Genomes, Genomics, Genotyping, Health risks, Humans, Hypotheses, Male, Medical research, Medicine, Medicine, Experimental, Metabolism, Middle Aged, Monomeric Clathrin Assembly Proteins, Monomeric Clathrin Assembly Proteins - genetics, Neurodegenerative diseases, Neurological disorders, Neurology, Nuclear Proteins, Nuclear Proteins - genetics, Peptide Fragments, Peptide Fragments - cerebrospinal fluid, Phosphorylation, Physicians, Polymorphism, Polymorphism, Single Nucleotide, Proteins, Psychiatry, Psykiatri, Receptors, Receptors, Complement 3b - genetics, Serine, Serine - metabolism, Signal Transducing, Single Nucleotide, Single nucleotide polymorphisms, Single-nucleotide polymorphism, Studies, Tau protein, tau Proteins, tau Proteins - cerebrospinal fluid, tau Proteins - chemistry, tau Proteins - metabolism, Threonine, Tumor Suppressor Proteins, Tumor Suppressor Proteins - genetics, β-Amyloid