No Association Between CALHM1 and Risk for Alzheimer Dementia in a Belgian Population

被引：23

作者：

Sleegers, Kristel ^{[2
,4
]}

Brouwers, Nathalie ^{[2
,4
]}

Bettens, Karolien ^{[2
,4
]}

Engelborghs, Sebastiaan ^{[3
,5
,6
]}

van Miegroet, Helen ^{[2
,4
]}

De Deyn, Peter P. ^{[3
,5
,6
]}

Van Broeckhoven, Christine ^{[1
,2
,4
]}

机构：

[1] Univ Antwerp VIB, Dept Mol Genet, Neurodegenerat Brain Dis Grp, CDE, B-2610 Antwerp, Belgium

[2] Inst Born Bunge, Neurogenet Lab, Antwerp, Belgium

[3] Inst Born Bunge, Lab Neurochem & Behav, Antwerp, Belgium

[4] Univ Antwerp, Antwerp, Belgium

[5] ZNA Middelheim, Mem Clin, Antwerp, Belgium

[6] ZNA Middelheim, Div Neurol, Antwerp, Belgium

来源：

HUMAN MUTATION | 2009年 / 30卷 / 04期

关键词：

Alzheimer disease; genetic association; CALHM1; calcium homeostasis; amyloid beta accumulation; APOE EPSILON-4; DISEASE; HOMEOSTASIS; DISRUPTION; PRESENILIN;

D O I：

10.1002/humu.20990

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：E570 / E574

页数：5

共 21 条

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