The role of rs1984112_G at CD36 gene in increasing reticulocyte level among sickle cell disease patients
| Autor: | Imen Moumni, Dorra Chaouachi, Imen Darragi, Marwa Dridi, Fethi Mellouli, Miniar Kalai, Salem Abbes, Mohamed Bejaoui, Leila Chaouch, Imen Boudrigua, Houyem Ouragini |
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| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
CD36 Antigens Erythrocyte Indices Male Reticulocytes Tunisia Adolescent Genotype CD36 Priapism Cell Disease Anemia Sickle Cell Hemolysis Polymorphism Single Nucleotide Severity of Illness Index 03 medical and health sciences Exon 0302 clinical medicine Reticulocyte Reticulocyte Count medicine Humans Genetic Predisposition to Disease Child Gene Alleles biology business.industry Hematology Exons medicine.disease 030104 developmental biology medicine.anatomical_structure Phenotype Child Preschool Immunology biology.protein Female business 030215 immunology |
| Zdroj: | Hematology (Amsterdam, Netherlands). 22(3) |
| ISSN: | 1607-8454 |
| Popis: | Mediators of adhesion become a potential new target for pharmacological therapy to struggle the complications of sickle cell disease (SCD). Several mechanisms for increased adherence have been postulated and the well-studied are CD36 and VLA4 which encoded by ITGA4. Herein, we sought to determine whether one polymorphism of CD36 namely: rs1984112 and three exons of ITGA4 (4, 5, and 6) are implicated in hemolytic status and clinical events among SCD Tunisian patients.This study enrolled 99 unrelated Tunisian subjects (63SS and 36Sβ). All SCD patients are children (less than 16 years old). The rs1984112 and the ITGA4's exons 4, 5, and 6 were analyzed for all subjects by PCR/sequencing. The association of each genotype found with both clinical complications and hemolytic status was performed using t-test. Clinical events studied included vaso-occlusive crisis (VOC), osteonecrosis, stroke, frequent infection, priapism, and acute syndrome.The results show that rs1984112_G allele at CD36 gene revealed to be associated with higher levels of reticulocyte count (p 0.01). The statistical result show a near significance of homozygous mutant GG genotype with VOC (p = 0.051). No association between rs1984112_G allele and the clinical severity of SCD were found. Mutational screening of exon 4, 5, and 6 of ITGA4 gene revealed absence of mutated variant.Our results are similar to those found in Portuguese population which reported the role of rs1984112_G in increasing reticulocyte level among SCD patients. Consequently, the rs1984112_G of CD36 could be considered as a reliable biomarker for predicting patients at high risk for vascular occlusions and thus, allows earlier and more effective therapeutic management. |
| Databáze: | OpenAIRE |
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