title: Mitochondrial haplogroup H and Alzheimer's disease--is there a connection?
abstract: We evaluated the involvement of the major Caucasian-specific mitochondrial haplogroups (H, I, J, K, T, U, V, W and X), haplogroup clusters (HV, UK, TJ, IWX) and two functional mtSNPs (4216, 4917) in the pathogenesis of Alzheimer's disease (AD) in the Polish population. The frequency distribution of mtDNA haplogroups was non-randomly associated with APOE4 status (chi(2)=73.17, df=1, p<0.0001, OR=5.97, 95% CI 3.90-9.12), however, no haplogroup-specific neutralizing of the APOE4 allele influence was detected. Multivariate analysis suggested the opposite-APOE4 status could modulate the effect of mtDNA haplogroups. We found that HV cluster is significantly associated with the risk of AD, regardless of the APOE4 status (OR=1.59, 95% CI, 1.04-2.44, p=0.032). Contrary to the previous studies, we report no evidence for the involvement of haplogroup U, K, J or T in AD risk. We conclude that further analysis of subtypes of haplogroup H would be necessary to decipher the relation of HV cluster with AD.
authors.affiliation: Department of Neurodegenerative Disorders, Polish Academy of Sciences Medical Research Center, 5 Pawińskiego Street, 02-106 Warsaw, Poland. ola.maruszak@cmdik.pan.pl
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Maruszak
authors.forename: Jeffrey A
authors.initials: JA
authors.lastname: Canter
authors.forename: Maria
authors.initials: M
authors.lastname: Styczyńska
authors.forename: Cezary
authors.initials: C
authors.lastname: Zekanowski
authors.forename: Maria
authors.initials: M
authors.lastname: Barcikowska
mesh_terms: D000368:Aged; D000544:Alzheimer Disease / Q000453:epidemiology / Q000235:genetics*; D053327:Apolipoprotein E4 / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006239:Haplotypes; D006801:Humans; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D008928:Mitochondria / Q000235:genetics*; D016017:Odds Ratio; D011044:Poland / Q000453:epidemiology; D011110:Polymorphism, Genetic; D012307:Risk Factors
chemical_list: D053327:Apolipoprotein E4; D004272:DNA, Mitochondrial