Tolba Fetnat Mahmoud, Diab Safia Mohamed, Abdelrahman Amira M N, Behairy Ola Galal, Almonaem Eman Rateb Abd, Mogahed Mysara M, Mohamed Shereen Abdel-Sadek
Clinical and Chemical Pathology Department, Faculty of Medicine, Benha University, Egypt.
Clinical and Chemical Pathology Department, Faculty of Medicine, Benha University, Egypt.
Blood Cells Mol Dis. 2019 Mar;75:20-25. doi: 10.1016/j.bcmd.2018.12.001. Epub 2018 Dec 14.
Interleukin-17F rs763780 (7488A/G) gene polymorphism obviously affecting the expression and activity of IL17F and may affect primary immune thrombocytopenia (PIT) susceptibility and its clinical features in Egyptian children and adults. 105 ITP patients divided into (63 pediatric and 42 adult patient) and 112 age and sex matched healthy controls were enrolled in this case control study. All patients were subjected to history taking; clinical examination, CBC, bone marrow aspiration and genotyping of IL17F rs763780 polymorphism by (PCR-RFLP) technique. Our results revealed significant decrease in the mutant heterozygous genotype AG and also in IL-17F mutant allele G frequency in ITP patient group and associated with increased risk for ITP compared with the control group (P = 0.04 and P = 0.005 respectively). Furthermore, the mutant allele G frequency was significantly decreased in childhood onset than adult onset ITP (OR = 0.31, P = 0.02) and also was significantly lower in chronic ITP when compared with newly diagnosed and persistent ITP (P = 0.005). Patients with the AA genotype showed severe thrombocytopenic state at diagnosis than those with the AG genotype (P = 0.04). We concluded from our results that interleukin-17F rs763780 (7488A/G) polymorphism is strongly correlated with susceptibility and severity of ITP.
白细胞介素-17F rs763780（7488A/G）基因多态性明显影响IL17F的表达和活性，可能影响埃及儿童和成人原发性免疫性血小板减少症（PIT）的易感性及其临床特征。本病例对照研究纳入了105例ITP患者（分为63例儿科患者和42例成人患者）以及112例年龄和性别匹配的健康对照。所有患者均接受病史采集、临床检查、血常规、骨髓穿刺，并采用（PCR-RFLP）技术对IL17F rs763780多态性进行基因分型。我们的结果显示，与对照组相比，ITP患者组中突变杂合基因型AG以及IL-17F突变等位基因G的频率显著降低，且与ITP风险增加相关（分别为P = 0.04和P = 0.005）。此外，儿童期发病的ITP患者中突变等位基因G的频率显著低于成人期发病者（OR = 0.31，P = 0.02），与新诊断和持续性ITP相比，慢性ITP患者中该突变等位基因G的频率也显著降低（P = 0.005）。AA基因型患者在诊断时的血小板减少状态比AG基因型患者更严重（P = 0.04）。我们从结果中得出结论，白细胞介素-17F rs763780（7488A/G）多态性与ITP的易感性和严重程度密切相关。
