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

• Published in: Pharmacogenomics Vol. 19; no. 5; pp. 401 - 411
• Main Authors: Jhun, Ellie H, Hu, Xiaoyu, Sadhu, Nilanjana, Yao, Yingwei, He, Ying, Wilkie, Diana J, Molokie, Robert E, Wang, Zaijie J
• Format: Journal Article
• Language: English
• Published: England Future Medicine Ltd 01.04.2018
• Subjects: Capsaicin receptors; Cold; Deoxyribonucleic acid; DNA; Gene polymorphism; Haplotypes; Ion channels; Morbidity; Pain; pain crisis; Pain perception; Patients; polymorphism; Regression analysis; Sickle cell disease; Statistical analysis; Transgenic animals; transient receptor potential; Transient receptor potential proteins; TRPA1; TRPV1; United States > US; polymorphism; TRPV1; TRPA1; pain crisis; transient receptor potential
• ISSN: 1462-2416; 1744-8042
• DOI: 10.2217/pgs-2017-0198

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 and with pain in SCD patients. 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. 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 (odds ratio = 0.218, p = 0.009) were significantly associated with utilization rate, suggesting that gene polymorphisms may influence acute pain crisis in SCD.