TY - JOUR
T1 - Paroxysmal nocturnal hemoglobinuria
T2 - Significant association with specific HLA-A, -B, -C, and -DR alleles in an Italian population
AU - Lombardi, Maria Luisa
AU - Terrazzano, Giuseppe
AU - Cosentini, Elena
AU - Gargiulo, Lucia
AU - Risitano, Antonio
AU - Camerlingo, Rosa
AU - Sica, Michela
AU - Aufiero, Daniela
AU - Poggi, Alessandro
AU - Pirozzi, Giuseppe
AU - Luzzatto, Lucio
AU - Rotoli, Bruno
AU - Notaro, Rosario
AU - Alfinito, Fiorella
AU - Ruggiero, Giuseppina
PY - 2008/3
Y1 - 2008/3
N2 - 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.
AB - 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.
KW - Alleles
KW - Haplotype
KW - HLA
KW - Immune-mediated disease
KW - PNH
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U2 - 10.1016/j.humimm.2008.02.001
DO - 10.1016/j.humimm.2008.02.001
M3 - Article
C2 - 18396213
AN - SCOPUS:41549102792
VL - 69
SP - 202
EP - 206
JO - Human Immunology
JF - Human Immunology
SN - 0198-8859
IS - 3
ER -