title: No association between CALHM1 and risk for Alzheimer dementia in a Belgian population.
abstract: 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.
authors.affiliation: Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, University of Antwerp, Antwerpen, Belgium.
authors.forename: Kristel
authors.initials: K
authors.lastname: Sleegers
authors.forename: Nathalie
authors.initials: N
authors.lastname: Brouwers
authors.forename: Karolien
authors.initials: K
authors.lastname: Bettens
authors.forename: Sebastiaan
authors.initials: S
authors.lastname: Engelborghs
authors.forename: Helen
authors.initials: H
authors.lastname: van Miegroet
authors.forename: Peter P
authors.initials: PP
authors.lastname: De Deyn
authors.forename: Christine
authors.initials: C
authors.lastname: Van Broeckhoven
mesh_terms: 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
chemical_list: C530077:CALHM1 protein, human; D015220:Calcium Channels; D008562:Membrane Glycoproteins