Dataset Information

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

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.