2. Academic Validation
  3. Phenylethanolamine N-methyltransferase gene polymorphisms associate with crisis pain in sickle cell disease patients

Phenylethanolamine N-methyltransferase gene polymorphisms associate with crisis pain in sickle cell disease patients

  • Pharmacogenomics. 2020 Mar;21(4):269-278. doi: 10.2217/pgs-2019-0096.
Nilanjana Sadhu 1,  Ellie H Jhun 1,  Andrew Posen 1,  Yingwei Yao 2,  Ying He 1 3,  Robert E Molokie 1 3 4 5,  Diana J Wilkie 2,  Zaijie J Wang 1 3
Affiliations

Affiliations

  • 1 Department of Biopharmaceutical Sciences, University of Illinois at Chicago College of Pharmacy, Chicago, IL 60607, USA.
  • 2 Department of Biobehavioral Nursing Science, University of Florida College of Nursing, Gainesville, FL, USA.
  • 3 Comprehensive Sickle Cell Center, Department of Medicine, University of Illinois at Chicago, Chicago, IL, USA.
  • 4 Jesse Brown Veteran's Administration Medical Center, Chicago, IL, USA.
  • 5 Division of Hematology/Oncology, University of Illinois at Chicago College of Medicine, Chicago, IL, USA.
PMID: 32162598 DOI: 10.2217/pgs-2019-0096
Abstract

Aim: Phenylethanolamine N-methyltransferase (PNMT) catalyzes the conversion of sympathetic neurotransmitter norepinephrine to epinephrine. We examined the association of PNMT polymorphisms with acute and chronic pain in sickle cell disease (SCD). Methods: Utilization of emergency care owing to painful crisis was used as a marker for acute pain in 131 patients with SCD. Results: rs876493 A allele, rs2934965 T allele and rs2941523 G allele were significantly associated with decreased utilization (p ≤ 0.05). rs876493 A allele showed association with utilization in females (p = 0.003), not males (p = 0.803). rs2934965 T allele and rs2941523 G allele were predicted to cause loss of putative transcription factor binding sites. This is the first report of the association of PNMT polymorphisms with acute crisis pain in SCD. Together with our previous findings in catechol-o-methyltransferase, polymorphisms in Catecholamine metabolizing Enzymes appear to primarily influence acute pain in SCD.

Keywords

PNMT; SNP; acute crisis pain; chronic pain; sickle cell disease.

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