Department of Pharmaceutical Sciences, University of Illinois College of Pharmacy, Chicago, IL 60612, USA.
Comprehensive Sickle Cell Center, University of Illinois Chicago, Chicago, IL 60612, USA.
Pharmacogenomics. 2023 Aug;24(12):641-649. doi: 10.2217/pgs-2023-0084. Epub 2023 Sep 15.
As the most distressing complication of sickle cell disease (SCD), pain is marked by considerable heterogenicity. In this study we explored the potential association of alcohol dehydrogenase 7 gene () polymorphism rs971074 with sickle cell pain. We analyzed clinical phenotypes and the rs971074 single-nucleotide polymorphism in by MassARRAY-iPlex analysis in a cohort of SCD patients. The synonymous rs971074 was significantly associated with both acute and chronic pain in SCD. Patients with the minor T allele(s) recorded significantly more crisis episodes and severe chronic pain symptoms. Our study has identified the rs971074 minor T allele as a genetic biomarker potentially influencing acute and chronic pain. These findings may ultimately help inform strategies to develop precision pain therapies in SCD.
作为镰状细胞病(SCD)最令人痛苦的并发症,疼痛具有明显的异质性。在这项研究中,我们探讨了醇脱氢酶 7 基因()多态性 rs971074 与镰状细胞痛之间的潜在关联。我们通过 MassARRAY-iPlex 分析,在 SCD 患者队列中分析了临床表型和 rs971074 单核苷酸多态性。同义 rs971074 与 SCD 中的急性和慢性疼痛均显著相关。携带次要 T 等位基因(s)的患者记录的危机发作和严重慢性疼痛症状明显更多。我们的研究确定了 rs971074 次要 T 等位基因作为潜在影响急性和慢性疼痛的遗传生物标志物。这些发现最终可能有助于为 SCD 制定精准疼痛治疗策略提供信息。