The effect of TOMM40 poly-T length on gray matter volume and cognition in middle-aged persons with APOE ε3/ε3 genotype.

Johnson, S., R. La, B. Hermann, G. Xu, R. Koscik, E. Jonaitis, B. Bendlin, K. Hogan, A. Roses, A. Saunders, M. Lutz, S. Asthana, R. Green, and M. Sager. “The Effect of TOMM40 Poly-T Length on Gray Matter Volume and Cognition in Middle-Aged Persons With APOE ε3/ε3 Genotype.”. Alzheimer’s & Dementia : The Journal of the Alzheimer’s Association, Vol. 7, no. 4, 2011, pp. 456-65.

Apolipoprotein E (APOE) genotypes are associated with variable risk of developing late-onset Alzheimer’s disease (LOAD), with APOE epsilon 4 (APOE ε4) having higher risk. A variable poly-T length polymorphism at rs10524523, within intron 6 of the translocase of the outer mitochondrial membrane (TOMM40) gene, has been shown to influence age of onset in LOAD, with very long (VL) poly-T length associated with earlier disease onset, and short poly-T length associated with later onset. In this study, we tested the hypothesis that brain and cognitive changes suggestive of presymptomatic LOAD may be associated with this TOMM40 polymorphism.

DOI: 10.1016/j.jalz.2010.11.012

PubMed: 21784354