No consistent evidence for association between mtDNA variants and Alzheimer disease

This is the authors' abstract. We don't add key points for this paper.

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. AD= : Alzheimer disease; DSM-IV= : Diagnostic and Statistical Manual of Mental Disorders, 4th edition; GERAD1= : Genetic and Environmental Risk for Alzheimer's Disease Consortium 1; LHON= : Leber hereditary optic neuropathy; MMSE= : Mini-Mental State Examination; MRC= : Medical Research Council; mtDNA= : mitochondrial DNA; SNP= : single nucleotide polymorphism.