No association between CALHM1 and risk for Alzheimer dementia in a Belgian population.
A non-synonymous polymorphism, rs2986017 (p.P86L), in the newly characterized calcium homeostasis modulator 1 (CALHM1) gene located in the Alzheimer dementia (AD) linkage region on 10q24.33, was reported to increase risk of AD, and affect calcium homeostasis and amyloid beta accumulation. We aimed to investigate the association between this functional polymorphism and AD in an independent study population. We genotyped rs2986017 in 362 Belgian AD patients and 519 ethnically matched control individuals. We found no evidence of association between rs2986017 and risk of disease, nor did we find an effect on onset age. Despite its functional properties, our study suggests the polymorphism does not contribute significantly to AD risk in the Belgian population.
Sleegers
Kristel
K
Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, University of Antwerp, Antwerpen, Belgium.
Brouwers
Nathalie
N
Bettens
Karolien
K
Engelborghs
Sebastiaan
S
van Miegroet
Helen
H
De Deyn
Peter P
PP
Van Broeckhoven
Christine
C
D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000175:diagnosis / Q000235:genetics*; D001530:Belgium; D015220:Calcium Channels / Q000235:genetics*; D015140:Dementia, Vascular / Q000175:diagnosis; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D016015:Logistic Models; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D019636:Neurodegenerative Diseases / Q000175:diagnosis; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D017422:Sequence Analysis, DNA
C530077:CALHM1 protein, human; D015220:Calcium Channels; D008562:Membrane Glycoproteins