Analysis of European mitochondrial haplogroups with Alzheimer disease risk.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • van der Walt, JM; Dementieva, YA; Martin, ER; Scott, WK; Nicodemus, KK; Kroner, CC; Welsh-Bohmer, KA; Saunders, AM; Roses, AD; Small, GW; Schmechel, DE; Murali Doraiswamy, P; Gilbert, JR; Haines, JL; Vance, JM; Pericak-Vance, MA

Published Date

  • July 15, 2004

Published In

Volume / Issue

  • 365 / 1

Start / End Page

  • 28 - 32

PubMed ID

  • 15234467

International Standard Serial Number (ISSN)

  • 0304-3940

Digital Object Identifier (DOI)

  • 10.1016/j.neulet.2004.04.051


  • eng

Conference Location

  • Ireland