| Literature DB >> 19191332 |
Kristel Sleegers1, Nathalie Brouwers, Karolien Bettens, Sebastiaan Engelborghs, Helen van Miegroet, Peter P De Deyn, Christine Van Broeckhoven.
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. (c) 2009 Wiley-Liss, Inc.Entities:
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Year: 2009 PMID: 19191332 DOI: 10.1002/humu.20990
Source DB: PubMed Journal: Hum Mutat ISSN: 1059-7794 Impact factor: 4.878