Common germline variants of the human APOE gene modulate melanoma progression and survival

Nat Med. 2020 Jul;26(7):1048-1053. doi: 10.1038/s41591-020-0879-3. Epub 2020 May 25.

Abstract

Common germline variants of the APOE gene are major risk modifiers of neurodegenerative and atherosclerotic diseases1-3, but their effect on cancer outcome is poorly defined. Here we report that, in a reversal of their effect on Alzheimer's disease, the APOE4 and APOE2 variants confer favorable and poor outcomes in melanoma, respectively. Mice expressing the human APOE4 allele exhibited reduced melanoma progression and metastasis relative to APOE2 mice. APOE4 mice exhibited enhanced anti-tumor immune activation relative to APOE2 mice, and T cell depletion experiments showed that the effect of APOE genotype on melanoma progression was mediated by altered anti-tumor immunity. Consistently, patients with melanoma carrying the APOE4 variant experienced improved survival in comparison to carriers of APOE2. Notably, APOE4 mice also showed improved outcomes under PD1 immune checkpoint blockade relative to APOE2 mice, and patients carrying APOE4 experienced improved anti-PD1 immunotherapy survival after progression on frontline regimens. Finally, enhancing APOE expression via pharmacologic activation of liver X receptors, previously shown to boost anti-tumor immunity4, exhibited therapeutic efficacy in APOE4 mice but not in APOE2 mice. These findings demonstrate that pre-existing hereditary genetics can impact progression and survival outcomes of a future malignancy and warrant prospective investigation of APOE genotype as a biomarker for melanoma outcome and therapeutic response.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Apolipoprotein E2 / genetics*
  • Apolipoprotein E3 / genetics*
  • Apolipoprotein E4 / genetics*
  • Brain / immunology
  • Brain / metabolism
  • Brain / pathology
  • Disease Progression
  • Disease-Free Survival
  • Female
  • Genotype
  • Germ-Line Mutation / genetics
  • Germ-Line Mutation / immunology
  • Humans
  • Melanoma / genetics*
  • Melanoma / immunology
  • Melanoma / pathology
  • Mice
  • Mice, Transgenic / genetics
  • Programmed Cell Death 1 Receptor / antagonists & inhibitors
  • Programmed Cell Death 1 Receptor / immunology

Substances

  • Apolipoprotein E2
  • Apolipoprotein E3
  • Apolipoprotein E4
  • PDCD1 protein, human
  • Programmed Cell Death 1 Receptor