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Neurology. 2012 Apr 3;78(14):1038-42. doi: 10.1212/WNL.0b013e31824e8f1d. Epub 2012 Mar 21.

No consistent evidence for association between mtDNA variants and Alzheimer disease.

Author information

  • 1Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, UK.

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.

PMID:
22442439
[PubMed - indexed for MEDLINE]
PMCID:
PMC3317529
Free PMC Article

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