title: Analysis of polymorphisms of TNF-α, LT-α, IL-10, IL-12 and CTLA-4 in patients with warm autoimmune haemolytic anaemia.
abstract: BACKGROUND
  Autoimmune haemolytic anaemia (AIHA) is defined as the increased destruction of red blood cells (RBCs) in the presence of anti-RBC autoantibodies and/or complement. Its pathogenesis is multifactorial and includes changes in mechanisms of cytokine production and functionality. A number of recent studies have implicated cytokines polymorphisms in the pathogenesis of autoimmune diseases. The aim of this study was to determine the frequency of polymorphisms of tumour necrosis factor alpha (TNF-α), lymphotoxin-α (LT-α), interleukin 10 (IL-10), interleukin 12 (IL-12) and cytotoxic T-lymphocyte antigen-4 (CTLA-4) in patients with AIHA in comparison with healthy individuals.
  
  
  METHODS
  The study population consisted of 17 patients with AIHA and 40 healthy controls. The polymorphisms for TNF-α-308, LT-α +252, IL-10 -592, IL-12 +1188 and CTLA-4 +49 were examined by polymerase chain reaction followed by specific restriction enzyme digestion.
  
  
  RESULTS
  There was no significant difference in the phenotypic distributions of polymorphisms of the TNF-α, IL-10, IL-12 and CTLA-4 between the patients and controls. Compared with healthy controls, patients with AIHA had a significant higher frequency of LT-α (+252) AG phenotype (41%vs. 13%; P = 0.032).
  
  
  CONCLUSIONS
  In this study, no significant differences on the frequency of TNF-α, IL-10, IL-12 and CTLA-4 polymorphisms between patients with AIHA and controls was found, suggesting that the targeted polymorphisms do not influence on the emergence and evolution of the disease. However, the LT-α +252 polymorphism might have an effect for AIHAI development, suggesting that further studies are necessary to clear up this question.
authors.affiliation: Disciplina de Hematologia e Hemoterapia, Escola Paulista de Medicina - Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brasil.
authors.forename: L S
authors.initials: LS
authors.lastname: D'Abronzo
authors.forename: M M O
authors.initials: MM
authors.lastname: Barros
authors.forename: J O
authors.initials: JO
authors.lastname: Bordin
authors.forename: M S
authors.initials: MS
authors.lastname: Figueiredo
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000744:Anemia, Hemolytic, Autoimmune / Q000235:genetics*; D060908:CTLA-4 Antigen / Q000235:genetics*; D016207:Cytokines / Q000235:genetics*; D005260:Female; D006801:Humans; D016753:Interleukin-10 / Q000235:genetics; D018664:Interleukin-12 / Q000235:genetics; D008233:Lymphotoxin-alpha / Q000235:genetics; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics
chemical_list: D060908:CTLA-4 Antigen; D016207:Cytokines; D008233:Lymphotoxin-alpha; D014409:Tumor Necrosis Factor-alpha; D016753:Interleukin-10; D018664:Interleukin-12