Analysis of European mitochondrial haplogroups with Alzheimer disease risk.

TitleAnalysis of European mitochondrial haplogroups with Alzheimer disease risk.
Publication TypeJournal Article
Year of Publication2004
Authorsvan der Walt JM, Dementieva YA, Martin ER, Scott WK, Nicodemus KK, Kroner CC, Welsh-Bohmer KA, Saunders AM, Roses AD, Small GW, Schmechel DE, P Doraiswamy M, Gilbert JR, Haines JL, Vance JM, Pericak-Vance MA
JournalNeurosci Lett
Volume365
Issue1
Pagination28-32
Date Published2004 Jul 15
ISSN0304-3940
KeywordsAged, 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
Abstract

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.

DOI10.1016/j.neulet.2004.04.051
Alternate JournalNeurosci. Lett.
PubMed ID15234467
Grant ListMH59528 / MH / NIMH NIH HHS / United States
U24 AG021886 / AG / NIA NIH HHS / United States
MH52453 / MH / NIMH NIH HHS / United States
AG05128 / AG / NIA NIH HHS / United States
AG10123 / AG / NIA NIH HHS / United States
RR00856 / RR / NCRR NIH HHS / United States
NS31153 / NS / NINDS NIH HHS / United States
AG019726 / AG / NIA NIH HHS / United States
AG11268 / AG / NIA NIH HHS / United States
AG09029 / AG / NIA NIH HHS / United States