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The effects of the TOMM40 poly-T alleles on Alzheimer's disease phenotypes.

Publication ,  Journal Article
Chiba-Falek, O; Gottschalk, WK; Lutz, MW
Published in: Alzheimers Dement
May 2018

The TOMM40 poly-T is a polymorphism in intron 6 of the TOMM40 gene, which is adjacent to and in linkage disequilibrium with APOE. Roses et al. identified the association between the length of TOMM40 poly-T with the risk and age of onset of late-onset Alzheimer's disease (LOAD). Following the original discovery, additional studies found associations between the TOMM40 poly-T and LOAD-related phenotypes independent of APOE genotypes, while others did not replicate these associations. Furthermore, the identity of the TOMM40 poly-T risk allele has been controversial between different LOAD-related phenotypes. Here, we propose a framework to address the conflicting findings with respect to the TOMM40 poly-T allele associations with LOAD phenotypes and their functional effects. The framework is used to interpret previous studies as means to gain insights regarding the nature of the risk allele, very long versus short. We suggest that the identity of the TOMM40 poly-T risk allele depends on the phenotype being evaluated, the ages of the study subjects at the time of assessment, and the context of the APOE genotypes. In concluding remarks, we outline future studies that will inform the mechanistic interpretation of the genetic data.

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Published In

Alzheimers Dement

DOI

EISSN

1552-5279

Publication Date

May 2018

Volume

14

Issue

5

Start / End Page

692 / 698

Location

United States

Related Subject Headings

  • Polymorphism, Single Nucleotide
  • Poly T
  • Phenotype
  • Mitochondrial Precursor Protein Import Complex Proteins
  • Membrane Transport Proteins
  • Humans
  • Geriatrics
  • Genotype
  • Genetic Predisposition to Disease
  • Apolipoproteins E
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Chiba-Falek, O., Gottschalk, W. K., & Lutz, M. W. (2018). The effects of the TOMM40 poly-T alleles on Alzheimer's disease phenotypes. Alzheimers Dement, 14(5), 692–698. https://doi.org/10.1016/j.jalz.2018.01.015
Chiba-Falek, Ornit, William K. Gottschalk, and Michael W. Lutz. “The effects of the TOMM40 poly-T alleles on Alzheimer's disease phenotypes.Alzheimers Dement 14, no. 5 (May 2018): 692–98. https://doi.org/10.1016/j.jalz.2018.01.015.
Chiba-Falek O, Gottschalk WK, Lutz MW. The effects of the TOMM40 poly-T alleles on Alzheimer's disease phenotypes. Alzheimers Dement. 2018 May;14(5):692–8.
Chiba-Falek, Ornit, et al. “The effects of the TOMM40 poly-T alleles on Alzheimer's disease phenotypes.Alzheimers Dement, vol. 14, no. 5, May 2018, pp. 692–98. Pubmed, doi:10.1016/j.jalz.2018.01.015.
Chiba-Falek O, Gottschalk WK, Lutz MW. The effects of the TOMM40 poly-T alleles on Alzheimer's disease phenotypes. Alzheimers Dement. 2018 May;14(5):692–698.
Journal cover image

Published In

Alzheimers Dement

DOI

EISSN

1552-5279

Publication Date

May 2018

Volume

14

Issue

5

Start / End Page

692 / 698

Location

United States

Related Subject Headings

  • Polymorphism, Single Nucleotide
  • Poly T
  • Phenotype
  • Mitochondrial Precursor Protein Import Complex Proteins
  • Membrane Transport Proteins
  • Humans
  • Geriatrics
  • Genotype
  • Genetic Predisposition to Disease
  • Apolipoproteins E