Association of the +874 T/A IFN gamma polymorphism with infections in sickle cell disease

Marie-Odile Joannes (1) , Gylna Loko (1) , Jacqueline Deloumeaux (1) , Roger Chout (1) , Therese Marianne-Pepin (2)

1 ECM - Epidémiologie Clinique et Médecine EA 4097
2 LDPM - Laboratoire Dynamique des Protéines et Modélisation

ABSTRACT Infectious complications are a leading cause of morbidity and mortality in patients with sickle cell disease. Several mechanisms are supposed to contribute to this susceptibility. The exact reasons of the propensity of sickle cell patients to infection are not clear and are still matter of debate. Interferon gamma is a key cytokine involved namely in the defence against intracellular pathogens. We investigated a possible association of +874 T/A IFNγ polymorphism and infectious complications in sickle cell patients. Seventy-two sickle cell patients were typed for +874 T/A IFNγ polymorphism. Genotype frequencies were different between cases and controls. Indeed, T allele frequency was significantly higher in patients with infections than in patients without infections (χ² = 6.23 ; p = 0.013). Our results suggest that +874 T/A IFNγ polymorphism is associated with infectious complications in sickle cell patients. The T allele could be involved in infections in sickle cell patients.

Mots clés: sickle cell; infection; polymorphism; genetic association; cytokine

Domaines: Biochimie, Biologie Moléculaire; Immunologie

Marie-Odile Joannes, Gylna Loko, Jacqueline Deloumeaux, Roger Chout, Therese Marianne-Pepin. Association of the +874 T/A IFN gamma polymorphism with infections in sickle cell disease. 2009. ⟨hal-00387081⟩