Paroxysmal nocturnal hemoglobinuria: significant association with specific HLA-A, -B, -C, and -DR alleles in an Italian population.
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.
Lombardi
Maria Luisa
ML
Dipartimento di Oncologia Sperimentale, Istituto Nazionale Tumori di Napoli, Napoli, Italy.
Terrazzano
Giuseppe
G
Cosentini
Elena
E
Gargiulo
Lucia
L
Risitano
Antonio
A
Camerlingo
Rosa
R
Sica
Michela
M
Aufiero
Daniela
D
Poggi
Alessandro
A
Pirozzi
Giuseppe
G
Luzzatto
Lucio
L
Rotoli
Bruno
B
Notaro
Rosario
R
Alfinito
Fiorella
F
Ruggiero
Giuseppina
G
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
D015234:HLA-A Antigens; D015235:HLA-B Antigens; D015236:HLA-C Antigens; D006683:HLA-DQ Antigens; D006684:HLA-DR Antigens