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

doi:10.1016/j.humimm.2008.02.001

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 journal › Article › peer-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 language	English
Pages (from-to)	202-206
Number of pages	5
Journal	Human Immunology
Volume	69
Issue number	3
DOIs	https://doi.org/10.1016/j.humimm.2008.02.001
Publication status	Published - Mar 2008

Keywords

Alleles
Haplotype
HLA
Immune-mediated disease
PNH

ASJC Scopus subject areas

Immunology
Immunology and Allergy

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Lombardi, M. L., Terrazzano, G., Cosentini, E., Gargiulo, L., Risitano, A., Camerlingo, R., Sica, M., Aufiero, D., Poggi, A., Pirozzi, G., Luzzatto, L., Rotoli, B., Notaro, R., Alfinito, F., & Ruggiero, G. (2008). Paroxysmal nocturnal hemoglobinuria: Significant association with specific HLA-A, -B, -C, and -DR alleles in an Italian population. Human Immunology, 69(3), 202-206. https://doi.org/10.1016/j.humimm.2008.02.001

Paroxysmal nocturnal hemoglobinuria : Significant association with specific HLA-A, -B, -C, and -DR alleles in an Italian population. / Lombardi, Maria Luisa; Terrazzano, Giuseppe; Cosentini, Elena; Gargiulo, Lucia; Risitano, Antonio; Camerlingo, Rosa; Sica, Michela; Aufiero, Daniela; Poggi, Alessandro; Pirozzi, Giuseppe; Luzzatto, Lucio; Rotoli, Bruno; Notaro, Rosario; Alfinito, Fiorella; Ruggiero, Giuseppina.

In: Human Immunology, Vol. 69, No. 3, 03.2008, p. 202-206.

Research output: Contribution to journal › Article › peer-review

Lombardi, ML, Terrazzano, G, Cosentini, E, Gargiulo, L, Risitano, A, Camerlingo, R, Sica, M, Aufiero, D, Poggi, A, Pirozzi, G, Luzzatto, L, Rotoli, B, Notaro, R, Alfinito, F & Ruggiero, G 2008, 'Paroxysmal nocturnal hemoglobinuria: Significant association with specific HLA-A, -B, -C, and -DR alleles in an Italian population', Human Immunology, vol. 69, no. 3, pp. 202-206. https://doi.org/10.1016/j.humimm.2008.02.001

Lombardi, Maria Luisa ; Terrazzano, Giuseppe ; Cosentini, Elena ; Gargiulo, Lucia ; Risitano, Antonio ; Camerlingo, Rosa ; Sica, Michela ; Aufiero, Daniela ; Poggi, Alessandro ; Pirozzi, Giuseppe ; Luzzatto, Lucio ; Rotoli, Bruno ; Notaro, Rosario ; Alfinito, Fiorella ; Ruggiero, Giuseppina. / Paroxysmal nocturnal hemoglobinuria : Significant association with specific HLA-A, -B, -C, and -DR alleles in an Italian population. In: Human Immunology. 2008 ; Vol. 69, No. 3. pp. 202-206.

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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.",

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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

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