title: Association of DNA Methyltransferase 3B Promotor Polymorphism With Childhood Chronic Immune Thrombocytopenia.
abstract: BACKGROUND
  DNA methylation is an epigenetic process that refers to chromatin-based mechanisms in the regulation of gene expression without DNA alternation. It is mediated by DNA methyltransferases (DNMTs). The DNA methyltransferase 3B (DNMT3B) gene contains a C-to-T single nucleotide polymorphism (SNP; rs2424913) in the Promotor region, 149 base pairs from the transcription start site, which is reported to significantly increase the Promotor activity.
  
  
  OBJECTIVE
  To investigate the prevalance of rs2424913 single nucleotide polymorphism located in the DNMT3B gene Promotor.
  
  
  METHODS
  In the present study, we investigated the prevalence of rs2424913 single nucleotide polymorphism located in DNMT3B gene Promotor by restriction fragment length polymorphism (PCR-RFLP) in Egyptian pediatric chronic immune thrombocytopenia (ITP) patients and controls.
  
  
  RESULTS
  The homozygous genotype (TT) was significantly higher in our patient and conferred almost 3-fold increased risk of chronic ITP when compared to controls.
  
  
  CONCLUSIONS
  The present study shows that DNMT3B rs2424913 promotor polymorphism represents a genetic risk factor that may play an important role in understanding the pathogenesis of chronic ITP.
authors: Department of Clinical and Chemical Pathology.
authors: Heba M
authors: HM
authors: Gouda
authors: Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors: Nermine M
authors: NM
authors: Kamel
authors: Department of Clinical and Chemical Pathology safa.meshaal@kasralainy.edu.eg.
authors: Safa S
authors: SS
authors: Meshaal
mesh_terms: D000293:Adolescent; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004248:DNA (Cytosine-5-)-Methyltransferases / Q000235:genetics*; D004534:Egypt; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D011446:Prospective Studies; D016553:Purpura, Thrombocytopenic, Idiopathic / Q000235:genetics*; D000097584:DNA Methyltransferase 3B
chemical_list: D004248:DNA (Cytosine-5-)-Methyltransferases; D000097584:DNA Methyltransferase 3B
keywords:  chronic ITP; DNA methylation; methyltransferases; rs2424913