title: The association of cytokine genes polymorphisms and susceptibility to aplastic anemia in Egyptian patients.
abstract: OBJECTIVE
  Aplastic anemia (AA) remains a rare disease, with very interesting pathophysiology that is being investigated for years now. The present study aimed to determine the association between cytokine gene polymorphisms (TGF-β1 -509 C/T, TNF-α -308 G/A, IFN-γ +874 A/T) and susceptibility to AA in Egyptian patients.
  
  
  METHODS
  The study included 80 participants subjected to determination of gene polymorphisms on genomic DNA using polymerase chain reaction-restriction fragment length polymorphism assay.
  
  
  RESULTS
  It was found that IFN-γ +874 A/T gene polymorphism is associated with three-fold increased risk of development of AA (odds ratio (OR) 3.116, P = 0.019), while TNF-α -308 G/A gene polymorphism is associated with decreased risk (OR 0.318, P = 0.026). TGF-β1 -509 C/T gene polymorphism showed comparable risk between patients and controls (P = 0.263).
  
  
  CONCLUSIONS
  IFN-γ +874 A/T gene polymorphism is associated with the etiology of AA in Egyptian patients.
authors.affiliation: a Clinical and Chemical Pathology Department, Kasralainy Faculty of Medicine , Cairo University , Egypt.
authors.forename: Rania A
authors.initials: RA
authors.lastname: Zayed
authors.affiliation: a Clinical and Chemical Pathology Department, Kasralainy Faculty of Medicine , Cairo University , Egypt.
authors.forename: Samah M
authors.initials: SM
authors.lastname: Abdel-Hamid
authors.affiliation: b Internal Medicine Department, Kasralainy Faculty of Medicine , Cairo University , Egypt.
authors.forename: Hend
authors.initials: H
authors.lastname: El-Lithy
mesh_terms: D000293:Adolescent; D000328:Adult; D000741:Anemia, Aplastic / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D016207:Cytokines / Q000235:genetics*; D004534:Egypt; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D016207:Cytokines
keywords: Aplastic anemia; Cytokine gene polymorphism; IFN-γ +874 A/T; TGF-β1 −509 C/T; TNF-α −308 G/A