No consistent evidence for association between mtDNA variants and Alzheimer disease

Hudson, G., Sims, Rebecca ORCID: https://orcid.org/0000-0002-3885-1199, Harold, Denise ORCID: https://orcid.org/0000-0001-5195-0143, Chapman, Jade Alice, Hollingworth, Paul, Gerrish, Amy, Russo, Giancarlo, Hamshere, Marian Lindsay ORCID: https://orcid.org/0000-0002-8990-0958, Escott-Price, Valentina ORCID: https://orcid.org/0000-0003-1784-5483, Denning, Nicola, Thomas, Charlene, Stretton, Alexandra, Holmans, Peter Alan ORCID: https://orcid.org/0000-0003-0870-9412, O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862, Williams, Julie ORCID: https://orcid.org/0000-0002-4069-0259 and Chinnery, P. F. 2012. No consistent evidence for association between mtDNA variants and Alzheimer disease. Neurology 78 (14) , pp. 1038-1042. 10.1212/WNL.0b013e31824e8f1d

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Abstract

Objective: Although several studies have described an association between Alzheimer disease (AD) and genetic variation of mitochondrial DNA (mtDNA), each has implicated different mtDNA variants, so the role of mtDNA in the etiology of AD remains uncertain. Methods: We tested 138 mtDNA variants for association with AD in a powerful sample of 4,133 AD case patients and 1,602 matched controls from 3 Caucasian populations. Of the total population, 3,250 case patients and 1,221 elderly controls met the quality control criteria and were included in the analysis. Results: In the largest study to date, we failed to replicate the published findings. Meta-analysis of the available data showed no evidence of an association with AD. Conclusion: The current evidence linking common mtDNA variations with AD is not compelling.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Advanced Research Computing @ Cardiff (ARCCA) MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Medicine Systems Immunity Research Institute (SIURI) Neuroscience and Mental Health Research Institute (NMHRI)
Subjects:	R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Publisher:	AAN Enterprises
ISSN:	0028-3878
Last Modified:	24 Oct 2022 10:09
URI:	https://orca.cardiff.ac.uk/id/eprint/43284

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