title: IL2 and TNFA gene polymorphisms and the risk of graft-versus-host disease after allogeneic haematopoietic stem cell transplantation.
abstract: This study aimed to analyse the association of gene polymorphisms with the outcome of allogeneic haematopoietic stem cell transplantation. We studied 122 donor/recipient pairs who received HLA-identical transplants from siblings at the Universidade Estadual de Campinas, Brazil, between June 1996 and June 2006. Donor/recipient alleles for TNFA-238 and IL2-330/+166 single-nucleotide polymorphisms (SNP) were analysed by PCR-SSP. No association was observed between the risk of acute graft-versus-host disease (GVHD) and these SNP. However, our findings suggest that the polymorphism of promoter gene TNFA-238GA is associated with the occurrence and severity of chronic GVHD. The probability of chronic GVHD in patients with GA genotype at position -238 of TNFA gene is 91.7% in contrast to 59.4% in patients with GG genotype (P = 0.038). In patients with donor GA genotype the probability of chronic GVHD is 90.8%, and 57.9% in patients with donor GG genotype (P = 0.038). The probability of extensive chronic GVHD in patients with TNFA-238GA is 91.7% compared with 46.3% in patients with TNFA-238GG (P = 0.0046). In patients with donor GA genotype at position -238 of the TNFA gene, it is 81.7%, compared with 44.5% in patients with donor GG genotype (P = 0.016). However, further studies with more patients are required to identify cytokine gene polymorphisms and their association with transplant-related complication in Brazil, particularly due to ethnic background, the relatively low power of detection of genetic markers of this study, and the complexity of the MHC region.
authors.affiliation: Laboratório de Imunogenética, Departamento de Análises Clínicas, Universidade Estadual de Maringá, Maringá, PR, Brazil.
authors.forename: D O
authors.initials: DO
authors.lastname: Viel
authors.forename: L T
authors.initials: LT
authors.lastname: Tsuneto
authors.forename: C R
authors.initials: CR
authors.lastname: Sossai
authors.forename: S R
authors.initials: SR
authors.lastname: Lieber
authors.forename: S B D
authors.initials: SB
authors.lastname: Marques
authors.forename: A C
authors.initials: AC
authors.lastname: Vigorito
authors.forename: F J P
authors.initials: FJ
authors.lastname: Aranha
authors.forename: K A
authors.initials: KA
authors.lastname: de Brito Eid
authors.forename: G B
authors.initials: GB
authors.lastname: Oliveira
authors.forename: E C M
authors.initials: EC
authors.lastname: Miranda
authors.forename: C A
authors.initials: CA
authors.lastname: de Souza
authors.forename: J E L
authors.initials: JE
authors.lastname: Visentainer
mesh_terms: D000293:Adolescent; D000328:Adult; D001938:Brazil; D002648:Child; D005260:Female; D005838:Genotype; D006086:Graft vs Host Disease / Q000235:genetics* / Q000276:immunology; D018380:Hematopoietic Stem Cell Transplantation / Q000009:adverse effects*; D006801:Humans; D007223:Infant; D007376:Interleukin-2 / Q000235:genetics* / Q000276:immunology; D007938:Leukemia / Q000235:genetics / Q000628:therapy; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics* / Q000276:immunology; D035781:Siblings; D014019:Tissue Donors; D014184:Transplantation, Homologous; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics* / Q000276:immunology
chemical_list: D007376:Interleukin-2; D014409:Tumor Necrosis Factor-alpha