Paroxysmal nocturnal hemoglobinuria: Significant association with specific HLA-A, -B, -C, and -DR alleles in an Italian population

Maria Luisa Lombardi, Giuseppe Terrazzano, Elena Cosentini, Lucia Gargiulo, Antonio Risitano, Rosa Camerlingo, Michela Sica, Daniela Aufiero, Alessandro Poggi, Giuseppe Pirozzi, Lucio Luzzatto, Bruno Rotoli, Rosario Notaro, Fiorella Alfinito, Giuseppina Ruggiero

Research output: Contribution to journalArticlepeer-review

Abstract

Paroxysmal nocturnal hemoglobinuria (PNH) is characterized by the expansion of a PIG-A mutated hematopoietic stem cell. An immune-mediated origin has been suggested for this disease. Because HLA genes represent a susceptibility factor for autoimmunity, we investigated HLA genotype in 42 Italian PNH patients compared with 301 control subjects of the same ethnic origin. A significantly increased frequency of the HLA class I alleles A*0201 (p <0.05), B*1402 (p <0.001), and Cw*0802 (p <0.005), and of the HLA class II DRB1*1501 (p <0.01) with the linked DQB1*0602 (p ≤ 0.05) and DRB1*01 (p ≤ 0.05) with the linked DQB1*0501 (p ≤ 0.01) alleles, has been observed. Notably, a fourfold increase of the haplotype B*1402, Cw*0802 (p <0.0005) and a 15-fold increase of the Mediterranean haplotype A*33, B*1402, Cw*0802, DRB1*0102, DQB1*0501 (p <0.005) was also revealed. This association may provide new insights into the autoimmune pathogenesis of PNH.

Original languageEnglish
Pages (from-to)202-206
Number of pages5
JournalHuman Immunology
Volume69
Issue number3
DOIs
Publication statusPublished - Mar 2008

Keywords

  • Alleles
  • Haplotype
  • HLA
  • Immune-mediated disease
  • PNH

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy

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