瞬时受体电位多态性和单倍型与镰状细胞病的危象性疼痛相关。
Transient receptor potential polymorphism and haplotype associate with crisis pain in sickle cell disease.
作者信息
Jhun Ellie H, Hu Xiaoyu, Sadhu Nilanjana, Yao Yingwei, He Ying, Wilkie Diana J, Molokie Robert E, Wang Zaijie J
机构信息
Department of Biopharmaceutical Sciences, University of Illinois at Chicago College of Pharmacy, Chicago, IL 60612, USA.
Department of Biobehavioral Health Science, University of Illinois at Chicago College of Nursing, Chicago, IL 60612, USA.
出版信息
Pharmacogenomics. 2018 Apr;19(5):401-411. doi: 10.2217/pgs-2017-0198. Epub 2018 Apr 5.
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.
目的
急性疼痛危象发作在镰状细胞病（SCD）中导致了相当高的发病率和死亡率。对潜在疼痛异质性的理解不全面导致疼痛管理不足。瞬时受体电位（TRP）家族的电压门控离子通道作为多种有害刺激的感觉转导器。我们对候选基因TRPV1和TRPA1的多态性与SCD患者的疼痛进行了关联研究。
方法
使用率，即因疼痛危象在12个月内急诊室/急性护理中心入院的次数，作为急性疼痛的标志物。
结果与结论
我们发现rs920829（发病率比=1.44，p=0.027，加性模型；IRR=1.68，p=0.008，负二项回归的隐性模型）和TRPA1的CGAGG单倍型（优势比=0.218，p=0.009）与使用率显著相关，表明TRPA1基因多态性可能影响SCD中的急性疼痛危象。
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