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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.

Original publication

DOI

10.1212/WNL.0b013e31824e8f1d

Type

Journal article

Journal

Neurology

Publication Date

03/04/2012

Volume

78

Pages

1038 - 1042

Keywords

Alzheimer Disease, Cohort Studies, DNA, Mitochondrial, Genetic Association Studies, Genetic Variation, Humans, Polymorphism, Single Nucleotide