Analysis of European mitochondrial haplogroups with Alzheimer disease risk

Joelle M van der Walt, Yulia A Dementieva, Eden R Martin, William K. Scott, Kristin K Nicodemus, Charles C Kroner, Kathleen A Welsh-Bohmer, Ann M Saunders, Allen D Roses, Gary W. Small, Donald E Schmechel, P Murali Doraiswamy, John R Gilbert, Jonathan L Haines, Jeffery M. Vance, Margaret A Pericak-Vance

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

We examined the association of mtDNA variation with Alzheimer disease (AD) risk in Caucasians (989 cases and 328 controls) testing the effect of individual haplogroups and single nucleotide polymorphisms (SNPs). Logistic regression analyses were used to assess risk of haplogroups and SNPs with AD in both main effects and interaction models. Males classified as haplogroup U showed an increase in risk (OR = 2.30; 95% CI, 1.03-5.11; P = 0.04) of AD relative to the most common haplogroup H, while females demonstrated a significant decrease in risk with haplogroup U (OR = 0.44 ; 95% CI, 0.24-0.80; P = 0.007). Our results were independent of APOE genotype, demonstrating that the effect of mt variation is not confounded by APOE4 carrier status. We suggest that variations within haplogroup U may be involved in AD expression in combination with environmental exposures or nuclear proteins other than APOE.

Original languageEnglish
Pages (from-to)28-32
Number of pages5
JournalNeuroscience Letters
Issue number1
Publication statusPublished - 15 Jul 2004

Keywords / Materials (for Non-textual outputs)

  • Aged
  • Alzheimer Disease
  • Apolipoproteins E
  • DNA, Mitochondrial
  • European Continental Ancestry Group
  • Female
  • Genetic Predisposition to Disease
  • Haplotypes
  • Humans
  • Male
  • Mitochondria
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide
  • Risk Factors
  • Sex Factors
  • Journal Article
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.


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