title: CALHM1 P86L polymorphism does not alter amyloid-beta or tau in cerebrospinal fluid.
abstract: 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.
authors.affiliation: Uppsala University, Department of Public Health/Geriatrics, Rudbeck Laboratory, Uppsala, Sweden.
authors.forename: Vilmantas
authors.initials: V
authors.lastname: Giedraitis
authors.forename: Anna
authors.initials: A
authors.lastname: Glaser
authors.forename: Timo
authors.initials: T
authors.lastname: Sarajärvi
authors.forename: RoseMarie
authors.initials: R
authors.lastname: Brundin
authors.forename: Malin Degerman
authors.initials: MD
authors.lastname: Gunnarsson
authors.forename: Brit-Maren
authors.initials: BM
authors.lastname: Schjeide
authors.forename: Rudolph E
authors.initials: RE
authors.lastname: Tanzi
authors.forename: Seppo
authors.initials: S
authors.lastname: Helisalmi
authors.forename: Tuula
authors.initials: T
authors.lastname: Pirttilä
authors.forename: Lena
authors.initials: L
authors.lastname: Kilander
authors.forename: Lars
authors.initials: L
authors.lastname: Lannfelt
authors.forename: Hilkka
authors.initials: H
authors.lastname: Soininen
authors.forename: Lars
authors.initials: L
authors.lastname: Bertram
authors.forename: Martin
authors.initials: M
authors.lastname: Ingelsson
authors.forename: Mikko
authors.initials: M
authors.lastname: Hiltunen
mesh_terms: D000368:Aged; D000544:Alzheimer Disease / Q000134:cerebrospinal fluid / Q000235:genetics / Q000378:metabolism; D016229:Amyloid beta-Peptides / Q000134:cerebrospinal fluid* / Q000378:metabolism; D015415:Biomarkers / Q000134:cerebrospinal fluid / Q000378:metabolism; D015220:Calcium Channels / Q000235:genetics* / Q000378:metabolism; D003072:Cognition Disorders / Q000134:cerebrospinal fluid / Q000235:genetics / Q000378:metabolism; D015331:Cohort Studies; D005260:Female; D005387:Finland; D005838:Genotype; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics* / Q000378:metabolism; D010446:Peptide Fragments / Q000134:cerebrospinal fluid* / Q000378:metabolism; D010766:Phosphorylation; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA; D013548:Sweden; D044465:White People / Q000235:genetics; D016875:tau Proteins / Q000134:cerebrospinal fluid* / Q000378:metabolism
chemical_list: D016229:Amyloid beta-Peptides; D015415:Biomarkers; C530077:CALHM1 protein, human; D015220:Calcium Channels; C054369:MAPT protein, human; D008562:Membrane Glycoproteins; D010446:Peptide Fragments; C075222:amyloid beta-protein (1-42); D016875:tau Proteins