Transient receptor potential polymorphism and haplotype associate with crisis pain in sickle cell disease

Ellie H. Jhun, Xiaoyu Hu, Nilanjana Sadhu, Yingwei Yao, Ying He, Diana J. Wilkie, Robert E. Molokie, Zaijie J. Wang

Research output: Contribution to journalArticlepeer-review

26 Scopus citations

Abstract

Aim: Episodes of acute pain crisis contribute to considerable morbidity and mortality in sickle cell disease (SCD). Incomprehensive understanding of the underlying pain heterogeneity results in inadequate pain management. The transient receptor potential (TRP) family of voltage-gated ion channels acts as sensory transducers of diverse noxious stimuli. We performed an association study of polymorphisms in candidate genes TRPV1 and TRPA1 with pain in SCD patients. Methods: Utilization rate, in other words, number of emergency department/acute care center admissions over 12 months as a result of pain crisis, served as a marker for acute pain. Results & conclusion: We identified that rs920829 (incident rate ratio = 1.44, p = 0.027 additive; IRR=1.68, p=0.008 recessive models of negative binomial regression) and the CGAGG haplotype of TRPA1 (odds ratio = 0.218, p = 0.009) were significantly associated with utilization rate, suggesting that TRPA1 gene polymorphisms may influence acute pain crisis in SCD.

Original languageEnglish
Pages (from-to)401-411
Number of pages11
JournalPharmacogenomics
Volume19
Issue number5
DOIs
StatePublished - Apr 2018
Externally publishedYes

Keywords

  • pain crisis
  • polymorphism
  • transient receptor potential
  • TRPA1
  • TRPV1

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