Association between Duffy antigen receptor expression and disease severity in sickle cell disease patients
Association between Duffy antigen receptor expression and disease severity in sickle cell disease patients
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DOI：
10.1080/10245332.2015.1111643
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发表时间：
2016-01-01
期刊：
影响因子：
1.9
通讯作者：
AbdelRahman, Hala A.
中科院分区：
文献类型：
--
作者：
Farawela, Hala M.;El-Ghamrawy, Mona;AbdelRahman, Hala A.
目的：镰状细胞病(SCD)与促炎状态有关，其特征是基线白细胞计数和炎性细胞因子升高。炎症、白细胞(WBC)与血管内皮细胞的黏附以及随后的内皮损伤，以及反复的缺血-再灌注损伤都参与了疾病的发病机制。识别可能调节SCD疾病严重程度的基因多态正在成为一个感兴趣的领域。Duffy血型抗原已被确认为参与中性粒细胞激活和运输的各种趋化因子的受体。本研究旨在探讨埃及镰状细胞病患者红细胞Duffy抗原表达及其基因多态性在调节疾病严重程度及其并发症中的作用。方法：分析100例埃及镰状细胞病患者的Duffy基因和表型与SCD临床表现的关系。采用间接抗球蛋白试验检测Duffy表型表达，聚合酶链式反应-限制性片段长度多态性分析进行Duffy基因分型。结果：WBC总数与Duffy基因分型密切相关。Duffy阳性患者外周血WBC明显升高(P=0.002)。疾病严重程度的个体指标(肺功能障碍、缺血性坏死、中枢神经系统功能障碍、肾功能障碍和腿部溃疡)与Duffy基因分型之间没有明显的统计学意义。结论：我们的研究提示SCD患者RBC Duffy基因表达增加了WBC水平，Duffy基因可能不是SCD终末器官损害的潜在生物标志物。
Objectives: Sickle cell disease (SCD) is associated with a pro-inflammatory state, characterized by an elevated baseline leukocyte count and inflammatory cytokines. Inflammation, white blood cell (WBC) adhesion to vascular endothelium with subsequent endothelial injury, and repeated ischemia-reperfusion injury contribute to disease pathogenesis. Identification of genetic polymorphisms that may modulate disease severity in SCD is becoming a field of interest. The Duffy blood group antigen has been identified as a receptor for various chemokines involved in neutrophil activation and trafficking. This study aimed at investigating the effect of RBCs' Duffy antigen expression and its genetic polymorphisms on modulating disease severity and its complications among Egyptian sickle cell patients.Methods: We analyzed the association of Duffy genotypes and phenotypes with clinical expression of SCD in 100 Egyptian patients. The Duffy phenotype expression was detected by indirect anti-globulin test while Duffy genotyping was conducted with polymerase chain reaction-restriction fragment length polymorphism-based assay.Results: Total WBC count was strongly associated with Duffy genotype. WBCs were significantly higher in Duffy-positive patients (P= 0.002). No statistical significance was evident between individual measures of disease severity (pulmonary dysfunction, avascular necrosis, central nervous system dysfunction, kidney dysfunction, and leg ulcers) and Duffy genotype.Conclusion: Our study suggests that RBC Duffy expression increases levels of WBCs in SCD patients and that Duffy genotype may not be a potential biomarker for end-organ damage in SCD.