Polymorphisms in the TNFA gene and the risk of inhibitor development in patients with hemophilia A

Blood. 2006 Dec 1;108(12):3739-45. doi: 10.1182/blood-2006-05-024711. Epub 2006 Aug 22.

Abstract

The HLA class I/II alleles and the tumor necrosis factor alpha (TNFA) locus are closely linked in the MHC complex. We have characterized the causative factor VIII mutation, HLA alleles as well as 4 polymorphisms (-827C>T, -308G>A, -238A>G, and 670A>G) in the TNFA gene in 164 patients (124 severe, 26 moderate, and 14 mild) in 78 families with hemophilia A enrolled in the Malmö International Brother Study (MIBS). Inhibitors were identified in 77.8% of patients with a single haplotype (Hap 2) and 72.7% of the patients with the TNFA -308 A/A genotype within this haplotype compared with 39.7% for TNFA -308 G/G patients and 46.9% for TNFA -308 G/A heterozygotes (OR 4.0; 95% CI, 1.4-11.5; P = .008). The association between the -308 A/A genotype and inhibitors was enhanced in subgroups of patients with severe hemophilia (OR 19.2; 95% CI 2.4-156.5; P < .001) and with inversions (n = 75; OR, 11.8; 95% CI, 1.3-105.1; P = .013). Associations were found for the HLA A26 and B44 alleles, but these were not consistent in the subgroup analysis. Our data imply that the TNFA -308G>A polymorphism within Hap 2 is a useful marker and potential modulator of the immune response to replacement therapy in patients with hemophilia.

Publication types

  • Clinical Trial
  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blood Coagulation Factor Inhibitors / genetics
  • Blood Coagulation Factor Inhibitors / immunology*
  • Cohort Studies
  • Female
  • Genetic Markers
  • Genotype
  • HLA Antigens / genetics
  • HLA Antigens / immunology
  • Hemophilia A / genetics*
  • Hemophilia A / immunology
  • Hemophilia A / therapy
  • Humans
  • Male
  • Polymorphism, Single Nucleotide*
  • Quantitative Trait Loci / genetics
  • Quantitative Trait Loci / immunology
  • Risk Factors
  • Tumor Necrosis Factor-alpha / genetics*
  • Tumor Necrosis Factor-alpha / immunology

Substances

  • Blood Coagulation Factor Inhibitors
  • Genetic Markers
  • HLA Antigens
  • Tumor Necrosis Factor-alpha