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Article

A genome-wide study shows a limited contribution of rare copy number variants to Alzheimer's disease risk.

Human molecular genetics - 15 Feb 2013

Chapman Jade, Rees Elliott, Harold Denise, Ivanov Dobril, Gerrish Amy, Sims Rebecca, Hollingworth Paul, Stretton Alexandra, Holmans Peter, Owen Michael J, O'Donovan Michael C, Williams Julie, Kirov George

Abstract excerpt

We assessed the role of rare copy number variants (CNVs) in Alzheimer's disease (AD) using intensity data from 3260 AD cases and 1290 age-matched controls from the genome-wide association study (GWAS) conducted by the Genetic and Environmental Risk for Alzheimer's disease Consortium (GERAD). We did not observe a significant excess of rare CNVs in cases, although we did identify duplications overlapping APP and...

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Identifiers

PMID: 23148125
DOI: 10.1093/hmg/dds476
PMCID: PMC3554198

Genes

APP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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