An alcohol dehydrogenase 7 gene polymorphism associates with both acute and chronic pain in sickle cell disease

Pharmacogenomics. 2023 Aug;24(12):641-649. doi: 10.2217/pgs-2023-0084. Epub 2023 Sep 15.

Abstract

Introduction: As the most distressing complication of sickle cell disease (SCD), pain is marked by considerable heterogenicity. In this study we explored the potential association of alcohol dehydrogenase 7 gene (ADH7) polymorphism rs971074 with sickle cell pain. Methods: We analyzed clinical phenotypes and the rs971074 single-nucleotide polymorphism in ADH7 by MassARRAY-iPlex analysis in a cohort of SCD patients. Results: The synonymous rs971074 was significantly associated with both acute and chronic pain in SCD. Patients with the minor T allele(s) recorded significantly more crisis episodes and severe chronic pain symptoms. Conclusion: Our study has identified the rs971074 minor T allele as a genetic biomarker potentially influencing acute and chronic pain. These findings may ultimately help inform strategies to develop precision pain therapies in SCD.

Publication types

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

MeSH terms

  • Alcohol Dehydrogenase* / genetics
  • Anemia, Sickle Cell* / complications
  • Anemia, Sickle Cell* / drug therapy
  • Anemia, Sickle Cell* / genetics
  • Chronic Pain* / etiology
  • Chronic Pain* / genetics
  • Humans
  • Phenotype
  • Polymorphism, Single Nucleotide

Substances

  • Alcohol Dehydrogenase
  • ADH7 protein, human