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Lookup NU author(s): Professor Gavin Hudson, Julie Chapman, Professor Patrick Chinnery
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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. Neurology (R) 2012;78:1038-1042
Author(s): Hudson G, Sims R, Harold D, Chapman J, Hollingworth P, Gerrish A, Russo G, Hamshere M, Moskvina V, Jones N, Thomas C, Stretton A, Holmans PA, O'Donovan MC, Owen MJ, Williams J, Chinnery PF, GERAD1 Consortium
Publication type: Article
Publication status: Published
Journal: Neurology
Year: 2012
Volume: 78
Issue: 14
Pages: 1038-1042
Print publication date: 01/04/2012
ISSN (print): 0028-3878
ISSN (electronic): 1526-632X
Publisher: Lippincott Williams & Wilkins
URL: http://dx.doi.org/10.1212/WNL.0b013e31824e8f1d
DOI: 10.1212/WNL.0b013e31824e8f1d
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