A genome-wide association study for late-onset Alzheimer's disease using DNA pooling

Abraham, Richard, Escott-Price, Valentina ORCID: https://orcid.org/0000-0003-1784-5483, Sims, Rebecca ORCID: https://orcid.org/0000-0002-3885-1199, Hollingworth, Paul, Morgan, Angharad, Georgieva, Lyudmila, Dowzell, Kimberley, Cichon, Sven, Hillmer, Axel M, O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379, Williams, Julie ORCID: https://orcid.org/0000-0002-4069-0259, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 and Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950 2008. A genome-wide association study for late-onset Alzheimer's disease using DNA pooling. BMC Medical Genomics 1 (1) , 44. 10.1186/1755-8794-1-44

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Abstract

BACKGROUND: Late-onset Alzheimer's disease (LOAD) is an age related neurodegenerative disease with a high prevalence that places major demands on healthcare resources in societies with increasingly aged populations. The only extensively replicable genetic risk factor for LOAD is the apolipoprotein E gene. In order to identify additional genetic risk loci we have conducted a genome-wide association (GWA) study in a large LOAD case - control sample, reducing costs through the use of DNA pooling. METHODS: DNA samples were collected from 1,082 individuals with LOAD and 1,239 control subjects. Age at onset ranged from 60 to 95 and Controls were matched for age (mean = 76.53 years, SD = 33), gender and ethnicity. Equimolar amounts of each DNA sample were added to either a case or control pool. The pools were genotyped using Illumina HumanHap300 and Illumina Sentrix HumanHap240S arrays testing 561,494 SNPs. 114 of our best hit SNPs from the pooling data were identified and then individually genotyped in the case - control sample used to construct the pools. RESULTS: Highly significant association with LOAD was observed at the APOE locus confirming the validity of the pooled genotyping approach.For 109 SNPs outside the APOE locus, we obtained uncorrected p-values

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Neuroscience and Mental Health Research Institute (NMHRI) Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects:	R Medicine > R Medicine (General)
Publisher:	BioMed Central
ISSN:	1755-8794
Date of First Compliant Deposit:	22 August 2018
Last Modified:	25 Oct 2024 01:24
URI:	https://orca.cardiff.ac.uk/id/eprint/81958

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