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Uncovering newly identified aldehyde dehydrogenase 2 genetic variants that lead to acetaldehyde accumulation after an alcohol challenge.

Freeborn RwereJoseph R WhiteRafaela C R HellXuan YuXiaocong ZengLeslie McNeilKevin N ZhouMartin S AngstChe-Hong ChenDaria Mochly-RosenEric R Gross
Published in: Journal of translational medicine (2024)
We identified two additional ALDH2 variants in humans causing facial flushing and acetaldehyde accumulation after alcohol consumption. As alcohol use is associated with a several-fold higher risk for esophageal cancer for the E504K variant, the methodology developed here to characterize ALDH2 genetic variant response to alcohol can lead the way precision medicine strategies to further understand the interplay of alcohol consumption, ALDH2 genetics, and cancer.
Keyphrases
  • alcohol consumption
  • copy number
  • papillary thyroid
  • squamous cell
  • genome wide
  • squamous cell carcinoma
  • lymph node metastasis
  • soft tissue
  • cancer stem cells