DNA methyltransferase 3B (DNMT3B-579 G > T) promotor polymorphism and the susceptibility to pediatric immune thrombocytopenic purpura in Egypt
DNA methyltransferase 3B (DNMT3B-579 G > T) promotor polymorphism and the susceptibility to pediatric immune thrombocytopenic purpura in Egypt
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DOI：
10.1016/j.gene.2012.09.024
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发表时间：
2012-12-10
期刊：
影响因子：
3.5
通讯作者：
El-Ghamrawy, Mona Kamal
中科院分区：
文献类型：
--
作者：
Khorshied, Mervat Mamdooh;El-Ghamrawy, Mona Kamal
特发性血小板减少性紫癜（ITP）是一种以血小板破坏增加为特征的自身免疫性疾病。尽管ITP的病因尚不清楚，但人们普遍认为环境和遗传因素在该疾病的发展中发挥着重要作用。本研究旨在探索一种可能影响埃及儿童 ITP 易感性和病程的新型分子决定因素。为了实现我们的目标，通过聚合酶链式反应限制性片段长度多态性 (PCR-RFLP) 测定对 DNMT3B - 579 G > T 启动子多态性进行基因分型。目前的研究针对 140 名 ITP 患者和 150 名年龄和性别匹配的健康对照者进行。获得的结果显示，ITP 患者中 DNMT3B -579 TT 同型显着较高，导致 ITP 风险几乎增加三倍（OR = 3.16，95% CI = 1.73-5.79）。野生或突变基因型的ITP患者的临床或实验室数据没有统计学上的显着差异。此外，急性和慢性ITP患者的DNMT3B-579G>T基因型分布没有统计学差异。总之，DNMT3B - 579 G > T 启动子多态性代表了 ITP 的一个新的遗传危险因素，但不是埃及儿童 ITP 慢性化倾向的预测因子。 (C) 2012 Elsevier B.V. 保留所有权利。
Idiopathic thrombocytopenic purpura (ITP) is an autoimmune disease characterized by increased platelet destruction. Although the etiology of ITP remains unclear, it is accepted that both environmental and genetic factors play an important role in the development of the disease. The present study aimed at exploring a novel molecular determinant that may influence the susceptibility and course of ITP in Egyptian children. To achieve our aim, genotyping of DNMT3B - 579 G > T promotor polymorphism by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) assay. The current study was conducted on 140 ITP patients and 150 age and gender matched healthy controls. The results obtained revealed that DNMT3B -579 TT homotype was significantly higher in ITP patients and conferred almost three fold increased risk of ITP (OR = 3.16, 95%CI = 1.73-5.79). There was no statistically significant difference between ITP patients with wild or mutant genotypes as regards their clinical or laboratory data. Furthermore, there was no statistical difference in the distribution of DNMT3B - 579 G > T genotypes between acute and chronic ITP patients. In conclusion, DNMT3B - 579 G > T promotor polymorphism represents a novel genetic risk factor for ITP but not a predictor for tendency to chronicity in pediatric ITP in Egypt. (C) 2012 Elsevier B.V. All rights reserved.