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Mitochondrial DNA haplogroups and APOE4 allele are non-independent variables in sporadic Alzheimer's disease.

Publication ,  Journal Article
Carrieri, G; Bonafè, M; De Luca, M; Rose, G; Varcasia, O; Bruni, A; Maletta, R; Nacmias, B; Sorbi, S; Corsonello, F; Feraco, E; Andreev, KF ...
Published in: Human genetics
March 2001

Allele epsilon4 of the nuclear APOE gene is a leading genetic risk factor for sporadic Alzheimer's disease (AD). Moreover, an allele-specific effect of APOE isoforms on neuronal cell oxidative death is known. Because of the role of the mitochondrial genome (mtDNA) in oxidative phosphorylation and oxidative stress, an interaction between APOE polymorphism and mtDNA inherited variability in the genetic susceptibility to sporadic AD can be hypothesized. We have explored this hypothesis by analyzing mtDNA germline variants (mtDNA haplogroups) in a sample of AD patients (213 subjects) genotyped for APOE and classified as APOE epsilon4 carriers and non-carriers. We found that the frequency distribution of mtDNA haplogroups is different between epsilon4 carriers and non-carriers (P=0.018), thus showing non-random association between APOE and mtDNA polymorphisms. The same analysis, carried out in two samples of healthy subjects (179 age-matched and 210 individuals aged more than 100 years), showed independence between epsilon4 allele and mtDNA haplogroups. Therefore, the APOE/mtDNA interaction is restricted to AD and may affect susceptibility to the disease. In particular, some mtDNA haplogroups (K and U) seem to neutralize the harmful effect of the APOE epsilon4 allele, lowering the epsilon4 odds ratio from statistically significant to non-significant values.

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Published In

Human genetics

DOI

EISSN

1432-1203

ISSN

0340-6717

Publication Date

March 2001

Volume

108

Issue

3

Start / End Page

194 / 198

Related Subject Headings

  • Polymorphism, Genetic
  • Middle Aged
  • Male
  • Humans
  • Haplotypes
  • Genotype
  • Genetics & Heredity
  • Gene Frequency
  • Female
  • DNA, Mitochondrial
 

Citation

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Chicago
ICMJE
MLA
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Carrieri, G., Bonafè, M., De Luca, M., Rose, G., Varcasia, O., Bruni, A., … De Benedictis, G. (2001). Mitochondrial DNA haplogroups and APOE4 allele are non-independent variables in sporadic Alzheimer's disease. Human Genetics, 108(3), 194–198. https://doi.org/10.1007/s004390100463
Carrieri, G., M. Bonafè, M. De Luca, G. Rose, O. Varcasia, A. Bruni, R. Maletta, et al. “Mitochondrial DNA haplogroups and APOE4 allele are non-independent variables in sporadic Alzheimer's disease.Human Genetics 108, no. 3 (March 2001): 194–98. https://doi.org/10.1007/s004390100463.
Carrieri G, Bonafè M, De Luca M, Rose G, Varcasia O, Bruni A, et al. Mitochondrial DNA haplogroups and APOE4 allele are non-independent variables in sporadic Alzheimer's disease. Human genetics. 2001 Mar;108(3):194–8.
Carrieri, G., et al. “Mitochondrial DNA haplogroups and APOE4 allele are non-independent variables in sporadic Alzheimer's disease.Human Genetics, vol. 108, no. 3, Mar. 2001, pp. 194–98. Epmc, doi:10.1007/s004390100463.
Carrieri G, Bonafè M, De Luca M, Rose G, Varcasia O, Bruni A, Maletta R, Nacmias B, Sorbi S, Corsonello F, Feraco E, Andreev KF, Yashin AI, Franceschi C, De Benedictis G. Mitochondrial DNA haplogroups and APOE4 allele are non-independent variables in sporadic Alzheimer's disease. Human genetics. 2001 Mar;108(3):194–198.
Journal cover image

Published In

Human genetics

DOI

EISSN

1432-1203

ISSN

0340-6717

Publication Date

March 2001

Volume

108

Issue

3

Start / End Page

194 / 198

Related Subject Headings

  • Polymorphism, Genetic
  • Middle Aged
  • Male
  • Humans
  • Haplotypes
  • Genotype
  • Genetics & Heredity
  • Gene Frequency
  • Female
  • DNA, Mitochondrial