l-selectin gene polymorphisms and complications of sickle cell disease

C C Ugochukwu1, I Okpala, P Pantelidis

  • 1Department of Haematology, St Thomas' Hospital, University of London, UK. cynthia.ugochukwu@gstt.nhs.uk

We had found high expression of L-selectin and alphaMbeta2 integrin on leukocytes in patients with complications of sickle cell disease (SCD). In non-SCD patients, L-selectin polymorphisms are associated with vasculopathy and nephropathy. Our objective was to determine if L-selectin gene polymorphisms affect leukocyte expression of the protein, or the development of complications in SCD. By polymerase chain reaction with sequence-specific primers incorporating mismatches at the 3'-end, we analysed DNA from 142 HbSS patients and 102 healthy, racially matched, HbAA controls; to detect the F206L, T49S, and P213S L-selectin gene polymorphisms. All patients were assessed for complications of SCD. Steady-state expression of L-selectin on leukocytes was measured by flow cytometry in 44 patients. We excluded HbSS patients on hydroxyurea, with any other disease, pregnancy, or HbF > or = 10%. There were no significant differences in distribution of F206L, T49S or P213S l-selectin gene polymorphisms between patients and controls (chi(2) = 0.1, P > 0.05). There was no association between any of these gene polymorphisms and high expression of L-selectin by leukocytes, or the development of complications in SCD (chi(2) = 2.37, P > 0.05). The findings suggest that these three gene polymorphisms do not predispose to high leukocyte expression of L-selectin, or development of complications in SCD.

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