CALHM1 P86L polymorphism does not alter amyloid-beta or tau in cerebrospinal fluid.
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.
Giedraitis
Vilmantas
V
Uppsala University, Department of Public Health/Geriatrics, Rudbeck Laboratory, Uppsala, Sweden.
Glaser
Anna
A
Sarajärvi
Timo
T
Brundin
RoseMarie
R
Gunnarsson
Malin Degerman
MD
Schjeide
Brit-Maren
BM
Tanzi
Rudolph E
RE
Helisalmi
Seppo
S
Pirttilä
Tuula
T
Kilander
Lena
L
Lannfelt
Lars
L
Soininen
Hilkka
H
Bertram
Lars
L
Ingelsson
Martin
M
Hiltunen
Mikko
M
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
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