Infectious complications in sickle cell disease and HLA polymorphism

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

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. The exact reasons of the propensity of sickle cell patients to infection are not clear and are matter of debate. Besides, there is a striking variability of the clinical course of the disease between patients. This drew many scientists' attention. Genetic factors have been investigated as potential factor risks for infection in sickle cell patients, for example: HLA system; genes encoding Fc Human Immunoglobulin G receptor IIA, mannose-binding protein, and myeloperoxidase. Associations have been found, but all scientists agree that investigations have to be furthered. We investigated an association between HLA DRB1 and DQB1 polymorphism and infectious complications in sickle cell patients. Genotype frequencies were different between cases and controls for DRB1 locus. Indeed, HLA-DRB1*11 frequency was significantly higher in patients without infections than in patients with infections (χ² = 5.02; p = 0.025).

Keywords: sickle cell; infection; polymorphism; genetic association; HLA class II alleles

Domains: Biochemistry, Molecular Biology; Immunology

Marie-Odile Joannes, Gylna Loko, Jacqueline Deloumeaux, Therese Marianne-Pepin, Roger Chout. Infectious complications in sickle cell disease and HLA polymorphism. 2009. ⟨hal-00387082⟩