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Genetic polymorphisms and their relationship to erythrocyte alloimmunization in patients with sickle cell anemia

Grant number: 15/09460-0
Support type:Scholarships in Brazil - Scientific Initiation
Effective date (Start): August 01, 2015
Effective date (End): July 31, 2016
Field of knowledge:Biological Sciences - Genetics - Human and Medical Genetics
Principal researcher:Lilian Maria de Castilho
Grantee:Marcela Araújo Botelho
Home Institution: Centro de Hematologia e Hemoterapia (HEMOCENTRO). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil

Abstract

Patients with sickle cell anemia are among one of the most frequently transfused population alloimmunized, probably due to differences in polymorphic immunogenic erythrocyte antigens between blood donors, who are caucasians in general, and predominantly African descent patients. A better understanding of genes that may be associated with erythrocyte alloimmunization can elucidate new strategies in blood transfusions to reduce the risk of alloimmunization and adverse reactions to transfusion. The HLA system has been studied since it was observed that HLA can modulate alloimmunization. Furthermore, the rs660C / T polymorphism located in immunoregulatory gene TRIM21, which is connected to the B-globin locus has been described as a genetic marker predictive of alloimmunization as well as SNPs located in the CD81 gene. Genome-wide association studies (GWAS) have also identified relevant genes related to the predisposition to erythrocyte alloimmunization, such as GZMB, TGFBR2, TGFBR3, PRKCQ, CD80, TRIM31 and RNF39.The aim of this study is to investigate a possible association between erythrocyte alloimmunization and single nucleotide polymorphisms (SNPs) present in RHAG gene, which encodes the expression of Rh-associated glycoprotein, the gene of granzyme B (GZMB gene) and gene PRKCQ (Protein kinase C gene). In the future, this knowledge can contribute to new therapeutic strategies for the prevention of immune responses mediated by blood transfusion.

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