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首页> 外文期刊>Blood coagulation & fibrinolysis: an international journal in haemostasis and thrombosis >FcγRIIa and FcγRIIIa polymorphisms in childhood primary immune thrombocytopenia: Implications for disease pathogenesis and outcome
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FcγRIIa and FcγRIIIa polymorphisms in childhood primary immune thrombocytopenia: Implications for disease pathogenesis and outcome

机译:FcγRIIa和FcγRIIIa多态性在儿童原发性免疫性血小板减少症中的作用:对疾病发病机理和结果的影响

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Primary immune thrombocytopenia (ITP) is the commonest acquired cause of bleeding in childhood. The aim of the present study was to evaluate the role of FcγRIIa and FcγRIIIa polymorphisms in the pathogenesis and therapeutic result of childhood ITP. The genotypic frequencies for two Fcγ receptor single-nucleotide polymorphisms, FcγRIIa-131 arginine (R) versus histidine (H) and FcγRIIIa-158 valine (V) versus phenylalanine (F) were examined in 53 children diagnosed with ITP. The genotype frequencies were compared with those of 45 healthy controls. The association between the above frequencies and disease natural course as well as therapeutic result following intravenous immunoglobulin (IVIG) administration was investigated. FcγRIIIa-158V was significantly overrepresented in children with ITP versus controls (P=0.029), whereas no statistically significant difference was noted in FcγRIIa polymorphism distribution. No statistically significant difference was noted in the above genotype frequencies' distribution between children with newly diagnosed and chronic ITP, as well as with regards to the therapeutic result following IVIG administration. High-affinity FcγRIIIa variant (158 V) is possibly implicated in disease susceptibility, but neither of the two Fcγ receptor single-nucleotide polymorphisms seem to have any impact on chronicity or therapeutic effect of IVIG.
机译:原发性免疫性血小板减少症(ITP)是儿童期最常见的获得性出血原因。本研究的目的是评估FcγRIIa和FcγRIIIa多态性在儿童ITP的发病机理和治疗结果中的作用。在53位确诊为ITP的儿童中检查了两种Fcγ受体单核苷酸多态性FcγRIIa-131精氨酸(R)与组氨酸(H)和FcγRIIIa-158缬氨酸(V)与苯丙氨酸(F)的基因型频率。将基因型频率与45名健康对照者的基因型频率进行比较。研究了上述频率与疾病自然病程以及静脉注射免疫球蛋白(IVIG)后的治疗结果之间的关系。与对照组相比,ITP儿童的FcγRIIIa-158V明显过高(P = 0.029),而FcγRIIa多态性分布没有统计学上的显着差异。在新诊断和慢性ITP患儿之间的上述基因型频率分布以及IVIG给药后的治疗结果方面,在统计学上没有显着差异。高亲和力的FcγRIIIa变体(158 V)可能与疾病易感性有关,但是两个Fcγ受体单核苷酸多态性似乎都没有对IVIG的慢性或治疗效果产生任何影响。

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