The patterns of MHC association in aplastic and non-aplastic paroxysmal nocturnal hemoglobinuria

Arch Immunol Ther Exp (Warsz). 2011 Jun;59(3):231-8. doi: 10.1007/s00005-011-0125-2. Epub 2011 Mar 27.

Abstract

The deficiency of glycosyl-phosphatidylinositol (GPI)-anchored proteins in plasma membranes of PIG-A gene mutated hematopoietic stem cells (HSCs) is so far insufficient to explain the domination of paroxysmal nocturnal hemoglobinuria (PNH) clone over the normal HSC. We attempted to elucidate possible link between MHC and initial severe aplastic anemia (ISAA/PNH) type and non-aplastic (n/PNH) outcome of PNH. In 50 PNH patients assigned as ISAA/PNH (n = 13), n/PNH (n = 33) or nonassigned (n = 4) and 200 ethnically matched controls we analyzed MHC associations. Our data confirmed strong associations of DRB1*15:01 (RR = 3.51, p = 0.0011) and DQB1*06:02 (RR = 7.09, p = 0.000026) alleles, especially with n/PNH subtype. B*18:01 allele was associated with increased risk of ISAA/PNH subtype (RR = 5.25, p = 0.0028). We conclude that both class II and class I MHC alleles are associated with different subsets of PNH. Clonal selection of PIG-A mutated cells with cognate metabolic block is associated with MHC class II alleles DRB1*15:01 and DQB1*06:02 independent from initial severe AA clone selection. MHC class I molecule B*18:01 can additionally influence the domination of PNH clone in PNH subjects with initial severe aplastic anemia.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • HLA-B Antigens / genetics*
  • HLA-DQ Antigens / genetics*
  • HLA-DQ beta-Chains
  • HLA-DR Antigens / genetics*
  • HLA-DRB1 Chains
  • Hemoglobinuria, Paroxysmal / complications
  • Hemoglobinuria, Paroxysmal / genetics*
  • Hemoglobinuria, Paroxysmal / physiopathology
  • Histocompatibility Testing
  • Humans
  • Male
  • Membrane Glycoproteins / genetics*
  • Membrane Proteins / genetics
  • Middle Aged
  • Polymorphism, Genetic
  • Red-Cell Aplasia, Pure / complications
  • Red-Cell Aplasia, Pure / genetics*
  • Red-Cell Aplasia, Pure / physiopathology

Substances

  • HLA-B Antigens
  • HLA-DQ Antigens
  • HLA-DQ beta-Chains
  • HLA-DQB1 antigen
  • HLA-DR Antigens
  • HLA-DRB1 Chains
  • HLA-DRB1*15:01 antigen
  • Membrane Glycoproteins
  • Membrane Proteins
  • phosphatidylinositol glycan-class A protein