No consistent evidence for association between mtDNA variants and Alzheimer disease

G Hudson, R Sims, D Harold, J Chapman, P Hollingworth, A Gerrish, G Russo, M Hamshere, V Moskvina, N Jones, C Thomas, A Stretton, P A Holmans, M C O'Donovan, M J Owen, J Williams, P F Chinnery, GERAD1 Consortium, Patrick Kehoe

Research output: Contribution to journalArticle (Academic Journal)peer-review

38 Citations (Scopus)


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 languageEnglish
Pages (from-to)1038-42
Number of pages5
Issue number14
Publication statusPublished - 3 Apr 2012

Structured keywords

  • Dementia Research Group


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


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