title: Paroxysmal nocturnal hemoglobinuria: significant association with specific HLA-A, -B, -C, and -DR alleles in an Italian population.
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.
authors.affiliation: Dipartimento di Oncologia Sperimentale, Istituto Nazionale Tumori di Napoli, Napoli, Italy.
authors.forename: Maria Luisa
authors.initials: ML
authors.lastname: Lombardi
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Terrazzano
authors.forename: Elena
authors.initials: E
authors.lastname: Cosentini
authors.forename: Lucia
authors.initials: L
authors.lastname: Gargiulo
authors.forename: Antonio
authors.initials: A
authors.lastname: Risitano
authors.forename: Rosa
authors.initials: R
authors.lastname: Camerlingo
authors.forename: Michela
authors.initials: M
authors.lastname: Sica
authors.forename: Daniela
authors.initials: D
authors.lastname: Aufiero
authors.forename: Alessandro
authors.initials: A
authors.lastname: Poggi
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Pirozzi
authors.forename: Lucio
authors.initials: L
authors.lastname: Luzzatto
authors.forename: Bruno
authors.initials: B
authors.lastname: Rotoli
authors.forename: Rosario
authors.initials: R
authors.lastname: Notaro
authors.forename: Fiorella
authors.initials: F
authors.lastname: Alfinito
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Ruggiero
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D005260:Female; D005787:Gene Frequency; D015234:HLA-A Antigens / Q000235:genetics*; D015235:HLA-B Antigens / Q000235:genetics*; D015236:HLA-C Antigens / Q000235:genetics*; D006683:HLA-DQ Antigens / Q000235:genetics; D006684:HLA-DR Antigens / Q000235:genetics*; D006239:Haplotypes; D006457:Hemoglobinuria, Paroxysmal / Q000235:genetics*; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged
chemical_list: D015234:HLA-A Antigens; D015235:HLA-B Antigens; D015236:HLA-C Antigens; D006683:HLA-DQ Antigens; D006684:HLA-DR Antigens