@article{155ba5181ff646a795f26ce61673b041,
title = "Phenylethanolamine N-methyltransferase gene polymorphisms associate with crisis pain in sickle cell disease patients",
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 = "acute crisis pain, chronic pain, PNMT, sickle cell disease, SNP",
author = "Nilanjana Sadhu and Jhun, {Ellie H.} and Andrew Posen and Yingwei Yao and Ying He and Molokie, {Robert E.} and Wilkie, {Diana J.} and Wang, {Zaijie J.}",
note = "Funding Information: This study was supported in part by grants from the Illinois Department of Public Health (IDPH) and the National Heart, Lung, and Blood Institute (NHLBI) (R01 HL124945 and R35 HL140031). EH Jhun was supported by a predoctoral fellowship (T32 DE018381) from National Institute of Dental and Craniofacial Research (NIDCR). Its contents are solely the responsibility of the authors and do not necessarily represent the official views of the IDPH, NIH, NHLBI, NIDCR or Veteran{\textquoteright}s Administration. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed. No writing assistance was utilized in the production of this manuscript. Publisher Copyright: {\textcopyright} 2020 Future Medicine Ltd.",
year = "2020",
month = mar,
doi = "10.2217/pgs-2019-0096",
language = "English",
volume = "21",
pages = "269--278",
journal = "Pharmacogenomics",
issn = "1462-2416",
publisher = "Future Medicine Ltd.",
number = "4",
}