The biological foundation of the genetic association of TOMM40 with late-onset Alzheimer's disease.

@article{Zeitlow2017TheBF,
  title={The biological foundation of the genetic association of TOMM40 with late-onset Alzheimer's disease.},
  author={Kahli Zeitlow and Lefko Charlambous and Isaac Ng and Sonal Gagrani and Mirta Mihovilovic and Shuhong Luo and Daniel L Rock and A. P. Saunders and A. D. Roses and William Kirby Gottschalk},
  journal={Biochimica et biophysica acta. Molecular basis of disease},
  year={2017},
  volume={1863 11},
  pages={
          2973-2986
        }
}
A variable-length poly-T variant in intron 6 of the TOMM40 gene, rs10524523, is associated with risk and age-of-onset of sporadic (late-onset) Alzheimer's disease. In Caucasians, the three predominant alleles at this locus are Short (S), Long (L) or Very long (VL). On an APOE ε3/3 background, the S/VL and VL/VL genotypes are more protective than S/S. The '523 poly-T has regulatory properties, in that the VL poly-T results in higher expression than the S poly-T in luciferase expression systems… CONTINUE READING
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