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Göteborgs universitets publikationer

Fine mapping of genetic variants in BIN1, CLU, CR1 and PICALM for association with cerebrospinal fluid biomarkers for Alzheimer's disease.

Författare och institution:
John S K Kauwe (-); Carlos Cruchaga (-); Celeste M Karch (-); Brooke Sadler (-); Mo Lee (-); Kevin Mayo (-); Wayne Latu (-); Manti Su'a (-); Anne M Fagan (-); David M Holtzman (-); John C Morris (-); Alison M Goate (-); Kaj Blennow (Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi)
Publicerad i:
PloS one, 6 ( 2 ) s. e15918
Artikel, refereegranskad vetenskaplig
Sammanfattning (abstract):
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).
Ämne (baseras på Högskoleverkets indelning av forskningsämnen):
Klinisk medicin ->
Adaptor Proteins, Signal Transducing, genetics, Aged, Aged, 80 and over, Alzheimer Disease, cerebrospinal fluid, genetics, Amyloid beta-Peptides, cerebrospinal fluid, Biological Markers, cerebrospinal fluid, Clusterin, genetics, Female, Genetic Predisposition to Disease, genetics, Humans, Male, Middle Aged, Monomeric Clathrin Assembly Proteins, genetics, Nuclear Proteins, genetics, Peptide Fragments, cerebrospinal fluid, Phosphorylation, Polymorphism, Single Nucleotide, Receptors, Complement 3b, genetics, Serine, metabolism, Tumor Suppressor Proteins, genetics, tau Proteins, cerebrospinal fluid, chemistry, metabolism
Postens nummer:
Posten skapad:
2012-06-26 10:46

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