Lack of Impact of Cytotoxic T-Lymphocyte Antigen 4 Gene Exon 1 Polymorphism on Susceptibility to or Clinical Course of Egyptian Childhood Immune Thrombocytopenic Purpura
Lack of Impact of Cytotoxic T-Lymphocyte Antigen 4 Gene Exon 1 Polymorphism on Susceptibility to or Clinical Course of Egyptian Childhood Immune Thrombocytopenic Purpura
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DOI：
10.1177/1076029613502254
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发表时间：
2015-05
期刊：
影响因子：
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通讯作者：
E. Radwan;Rania I. M. Goda
中科院分区：
文献类型：
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作者：
E. Radwan;Rania I. M. Goda
T淋巴细胞免疫功能紊乱在免疫性血小板减少性紫癜（ITP）的病理生理中起重要作用。细胞毒性T淋巴细胞抗原4（CTLA-4）-一种表达在T调节细胞和活化T淋巴细胞上的表面标志物-是T细胞应答的负调节剂。CTLA-4的多态性可改变抗原表达水平，因此可影响免疫调节。本研究旨在评估CTLA-4外显子1 49 A>G多态性在ITP发病机制中的可能作用及其与发病年龄、临床病程和治疗反应的关系。应用聚合酶链反应-限制性片段长度多态性技术对100例ITP患儿和259例健康儿童进行CTLA-4外显子1 49 A>G基因分型。研究的多态性在患者和对照组之间的基因型或等位基因分布没有显着差异。根据发病年龄、临床病程或对治疗的反应进行分层后，在两组之间获得了可比的基因型和等位基因频率。总之，CTLA-4外显子1 49 A>G多态性与埃及人群中ITP的易感性无关，也不影响该疾病的临床表现。
Dysfunctional T-lymphocyte immunity plays an important role in the pathophysiology of immune thrombocytopenic purpura (ITP). Cytotoxic T-lymphocyte antigen 4 (CTLA-4)—a surface marker expressed on T regulatory cells and activated T lymphocytes—is a negative modulator of T-cell responses. Polymorphisms of the CTLA-4 may alter the level of antigen expression and hence may influence immune regulation. The study aimed to evaluate the possible contribution of CTLA-4 exon 1 49 A>G polymorphism to the pathogenesis of ITP and its relation to age of disease onset, clinical course, and response to therapy. Genotyping of CTLA-4 exon 1 49 A>G was performed in 100 pediatric patients with ITP and 259 healthy individuals by polymerase chain reaction–restricted fragment length polymorphism. No significant differences existed in genotype or allele distributions between patients and controls for the studied polymorphism. Comparable genotypes and allele frequencies were obtained between the 2 groups after their stratification by age of disease onset, clinical course, or response to therapy. In conclusion, CTLA-4 exon 1 49 A>G polymorphism is not associated with susceptibility to ITP in the Egyptian population; neither it affects the clinical picture of the disease.