Polymorphisms in TNF and IFNG are associated with clinical characteristics of aplastic anemia in Argentinean population

BESTACH, YESICA; SIEZA, YAMILA; ATTIE, MYRIAM; RICCHERI, CECILIA; VERRI, VERÓNICA; BOLESINA, MOIRA; BENGIÓ, RAQUEL; LARRIPA, IRENE; BELLI, CAROLINA

LEUKEMIA AND LYMPHOMA

TAYLOR & FRANCIS LTD

Lugar: Londres; Año: 2015 vol. 56 p. 1793 - 1798

1042-8194

The impaired hematopoiesis in acquired aplastic anemia (AA) results from immune-mediated mechanisms. We characterized polymorphisms implicated in controlling type-1 cytokine production in 69 AA patients.Our data suggest that the studied polymorphisms are not associated with susceptibility in the overall AA population. However, the presence of the higher expressing TNF -308A allele was associated with younger age (p=0.0297), more profound neutropenia (p=0.0312), and over-represented in very severe AA patients (p=0.0168). The higher producing IFNG 12 CA-repeat allele showed a strong linkage disequilibrium with +874T allele, and was associated with lower hemoglobin level (p=0.0351). Also, the presence of at least one higher expressing variant was more frequent among responder patients to immunosuppressive treatment (p=0.0519).Our findings suggest that the presence of higher expressing variants of TNF-α and IFN-γ in AA patient?s genotypes would be related to clinical parameters, disease severity and therapy outcomes.