-318C/T polymorphism of the CTLA-4 gene is an independent risk factor for RBC alloimmunization among sickle cell disease patients

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Oliveira, V. B. ; Dezan, M. R. ; Gomes, F. C. A. ; Menosi Gualandro, S. F. ; Krieger, J. E. ; Pereira, A. C. ; Marsiglia, J. D. ; Levi, J. E. ; Rocha, V. ; Mendrone-Junior, A. ; Sabino, E. C. ; Dinardo, C. L.

• Document type: Journal article
• Source: INTERNATIONAL JOURNAL OF IMMUNOGENETICS; v. 44, n. 5, p. 219-224, OCT 2017.
• Web of Science Citations: 8

Abstract

Cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4) molecule is expressed on T-lymphocyte membrane and negatively influences the antigen-presenting process. Reduced expression of CTLA-4 due to gene polymorphisms is associated with increased risk of autoimmune disorders, whose physiopathology is similar to that of post-transfusion red blood cell (RBC) alloimmunization. Our goal was to evaluate if polymorphisms of CTLA-4 gene that affect protein expression are associated with RBC alloimmunization. This was a case-control study in which 134 sickle cell disease (SCD) patients and 253 non-SCD patients were included. All patients were genotyped for the polymorphisms 49A/G and -318C/T of CTLA-4 gene. The genotype frequency of -318C/T differed significantly between alloimmunized and nonalloimmunized SCD patients, irrespective of clinical confounders (p=.016). SCD patients heterozygous for -318T allele presented higher risk of alloantibody development (OR: 5.4, CI: 1.15-25.6). In conclusion, the polymorphism -318C/T of CTLA-4 gene is associated with RBC alloimmunization among SCD patients. This highlights the role played by CTLA-4 on post-transfusion alloantibody development. (AU)

• FAPESP's process: 14/50250-6 - Validation of a cost-effective strategy for tracking rare erythrocyte and platelet phenotypes aiming to organize a rare blood donor program in São Paulo
• Grantee: Ester Cerdeira Sabino
• Support Opportunities: Research Grants - Research in Public Policies for the National Health Care System (PP-SUS)