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Neurology. 2011 Apr 12;76(15):1302-9. doi: 10.1212/WNL.0b013e3182166df5.

Olfactory copy number association with age at onset of Alzheimer disease.

Author information

  • 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Erratum in

  • Neurology. 2011 May 31;76(22):1945.

Abstract

OBJECTIVES:

Copy number variants (CNVs) have been recognized as a source of genetic variation that contributes to disease phenotypes. Alzheimer disease (AD) has high heritability for occurrence and age at onset (AAO). We performed a cases-only genome-wide CNV association study for age at onset of AD.

METHODS:

The discovery case series (n = 40 subjects with AD) was evaluated using array comparative genome hybridization (aCGH). A replication case series (n = 507 subjects with AD) was evaluated using Affymetrix array (n = 243) and multiplex ligation-dependent probe amplification (n = 264). Hazard models related onset age to CNV.

RESULTS:

The discovery sample identified a chromosomal segment on 14q11.2 (19.3-19.5 Mb, NCBI build 36, UCSC hg18 March 2006) as a region of interest (genome-wide adjusted p = 0.032) for association with AAO of AD. This region encompasses a cluster of olfactory receptors. The replication sample confirmed the association (p = 0.035). The association was found for each APOE4 gene dosage (0, 1, and 2).

CONCLUSION:

High copy number in the olfactory receptor region on 14q11.2 is associated with younger age at onset of AD.

PMID:
21482944
[PubMed - indexed for MEDLINE]
PMCID:
PMC3090061
Free PMC Article

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