基质衍生因子1多态性与埃及儿童ITP慢性性之间是否存在关系?

H. Hassab, Azza Mohamed, Marwa H. Saied, Nehad Hassanein
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摘要

背景原发性免疫性血小板减少症(ITP)是儿童最常见的出血性疾病。它是一种自身免疫性疾病,其特征是血小板破坏异常增加,巨核细胞产生减少。基质衍生因子-1 (SDF-1)在巨核生成中起作用,可能参与ITP的发病机制。目的了解ITP患儿SDF-1基因rs2297630a&z . ruule;G单核苷酸多态性(SNP)的流行情况及其与慢性的关系。研究人员对100名ITP儿童(埃及亚历山大大学儿童医院的50名慢性和50名非慢性ITP儿童(急性和持续性)以及50名年龄和性别匹配的健康对照)中SDF-1基因(rs2297630)的SNP进行了评估。外周血标本DNA提取后采用PCR分析基因型,直接测序证实基因型。结果在本研究中,SDF-1多态性与临床特征的关系分析显示,Rs2297630 A/G与研究患者的慢性或类固醇依赖保护无关[χ2=0.0, P=1.0和(P=0.21)]。结论ITP在埃及儿童中并不罕见,给我们的社区带来了巨大的经济和社会心理负担。SDF基因SNP (rs2297630)的AG基因型与实验组ITP的慢性性或类固醇依赖性无显著关系。
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Is there a relation between stromal-derived factor 1 polymorphism and ITP chronicity in Egyptian children?
Background Primary immune thrombocytopenia (ITP) is the most frequent hemorrhagic disease of childhood. It is an autoimmune disease characterized by abnormally increased destruction of platelets and decreased production of megakaryocytes. Stromal-derived factor-1 (SDF-1) plays a role in megakaryopoiesis and may be involved in the pathogenesis of ITP. Aim The aim of this study was to find out the prevalence of single-nucleotide polymorphism (SNP) of SDF-1 gene rs2297630 A&z.urule;G in children with ITP and its relation to chronicity. Participants and methods SNP of the SDF-1 gene (rs2297630) was assessed in 100 ITP children: 50 chronic and 50 nonchronic ITP children (acute and persistent) attending Alexandria University Children’s Hospital in Egypt and in 50 healthy controls of matched age and sex. The genotype was analyzed by PCR after DNA extraction from peripheral blood samples and confirmed by direct sequencing. Results In this study, analysis of the relationship between SDF-1 polymorphisms and clinical features showed that Rs2297630 A/G is not associated with protection from chronicity or steroid dependence in the studied patients [(χ2=0.0, P=1.0) and (P=0.21)]. respectively Conclusions ITP is not uncommon in Egyptian children and has a great financial and psychosocial burden on our community. AG genotype of the SNP (rs2297630) of the SDF gene has no significant relation to ITP chronicity or steroid dependence in the studied groups.
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