title: A Study of Human Killer Cell Immunoglobulin-Like Receptor and Multidrug Resistance Gene Polymorphisms in Children With Immune Thrombocytopenia.
abstract: OBJECTIVE
  This study was undertaken to detect characterization of the different gene polymorphisms in Human killer cell immunoglobulin-like receptor (KIR2) gene and multi-drug resistance (MDR1) gene, among childhood ITP Egyptian patients. In addition to assess the potential role of these polymorphisms in relation to types of ITP and response to different treatment modalities.
  
  
  METHODS
  A total of 48 pediatric patients with immune thrombocytopenia (ITP; 24 newly diagnosed and 24 chronic) and 35 healthy controls were investigated via polymerase chain reaction-restriction fragment length polymorphism analysis for multidrug resistance (MDR) 1 and killer cell immunoglobulin-like receptor (KIR) 2 genes.
  
  
  RESULTS
  The frequency of MDR1 gene in patients and control was not significant (P = .090). The CT genotype was the highest distribution among all ITP cases (62.50%, n = 30) and control (48.60%, n = 17). There was a significant difference in age at diagnosis of MDR1 gene with the CC genotype had the eldest age and lowest initial platelets count (P = .029 and P = .004). The distribution of KIR2 gene among all patients with ITP and controls was significant (P = .026) with (KIRDL2-/KIRDS2-) genotype was the most prevalent among patients.
  
  
  CONCLUSIONS
  The frequency of MDR1 polymorphisms was not associated with susceptibility to the development and clinical progression of the disease. However, KIR2 gene polymorphisms were independently associated with childhood ITP in Egyptian patients with highest prevalence among (KIRDL2-/KIRDS2-) genotypes.
authors: Department of Pediatrics, Hematology and Oncology Unit, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
authors: Nagham Mohamed Samy
authors: NM
authors: El-Beblawy
authors: Department of Pediatrics, Hematology and Oncology Unit, Faculty of Medicine, Ain Shams University, Cairo, Egypt nancy_elbarbary@yahoo.com.
authors: Nancy Samir
authors: NS
authors: Elbarbary
authors: Department of Pediatrics, Human Genetics Unit, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
authors: Tarek Mostafa
authors: TM
authors: Kamal
authors: Department of Pediatrics, Hematology and Oncology Unit, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
authors: Perehan Mohsen
authors: PM
authors: Mahmoud
mesh_terms: D018435:ATP Binding Cassette Transporter, Subfamily B / Q000235:genetics; D000293:Adolescent; D017668:Age of Onset; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004534:Egypt; D005260:Female; D005787:Gene Frequency; D019450:Genes, MDR / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D012150:Polymorphism, Restriction Fragment Length; D016553:Purpura, Thrombocytopenic, Idiopathic / Q000188:drug therapy / Q000235:genetics* / Q000276:immunology; D054340:Receptors, KIR / Q000235:genetics*
chemical_list: C513055:ABCB1 protein, human; D018435:ATP Binding Cassette Transporter, Subfamily B; D054340:Receptors, KIR
keywords: childhood; genetic association; human killer cell immunoglobulin-like receptors gene; immune thrombocytopenia; multidrug resistance gene 1