Variable Details

Available Studies

ROS, MAP, MARS, Clinical Core


Not Scaled

Variable Type 


Variable Name 



ApoE and TOMM40

TOMM40 genotype
Translocase of outer mitochondrial membrane 40 genotype

TOMM40 (translocase of outer mitochondrial membrane, 40kD) encodes a membrane-bound mitochondrial protein that is adjacent to, and in linkage disequilibrium with, the apolipoprotein E gene. Genotyping is performed by Polymorphic DNA Technologies, Inc. (Alameda, California), blinded to all clinical and pathologic data. The TOMM40’523 genotypes are determined by rs10524523 (chr19:44,899,792-44,899,826, human genome reference assembly GRCh38/hg38), a homopolymer length polymorphism (poly-T), at intron 6 of the TOMM40 gene, as described by Roses et al., 2014. Allele lengths are then categorized based on the number of the poly-T repeats: a short allele [’523-S] is defined by poly-T repeat≤19, a long [’523-L] allele by 20≤poly-T repeat≤ 29;, and a very long allele [’523-VL] by poly-T repeat≥30.

TOMM40’523 genotypes:

Value Code
1 S/S
2 S/L
3 S/VL
4 L/L
5 L/VL