title: The role of rs1984112_G at CD36 gene in increasing reticulocyte level among sickle cell disease patients.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: a Université de Tunis El Manar, Institut Pasteur de Tunis , Laboratoire d'Hématologie Moléculaire et Cellulaire , Tunis , Tunisia.
authors.forename: Miniar
authors.initials: M
authors.lastname: Kalai
authors.affiliation: a Université de Tunis El Manar, Institut Pasteur de Tunis , Laboratoire d'Hématologie Moléculaire et Cellulaire , Tunis , Tunisia.
authors.forename: Marwa
authors.initials: M
authors.lastname: Dridi
authors.affiliation: a Université de Tunis El Manar, Institut Pasteur de Tunis , Laboratoire d'Hématologie Moléculaire et Cellulaire , Tunis , Tunisia.
authors.forename: Leila
authors.initials: L
authors.lastname: Chaouch
authors.affiliation: a Université de Tunis El Manar, Institut Pasteur de Tunis , Laboratoire d'Hématologie Moléculaire et Cellulaire , Tunis , Tunisia.
authors.forename: Imen
authors.initials: I
authors.lastname: Moumni
authors.affiliation: a Université de Tunis El Manar, Institut Pasteur de Tunis , Laboratoire d'Hématologie Moléculaire et Cellulaire , Tunis , Tunisia.
authors.forename: Houyem
authors.initials: H
authors.lastname: Ouragini
authors.affiliation: a Université de Tunis El Manar, Institut Pasteur de Tunis , Laboratoire d'Hématologie Moléculaire et Cellulaire , Tunis , Tunisia.
authors.forename: Imen
authors.initials: I
authors.lastname: Darragi
authors.affiliation: a Université de Tunis El Manar, Institut Pasteur de Tunis , Laboratoire d'Hématologie Moléculaire et Cellulaire , Tunis , Tunisia.
authors.forename: Imen
authors.initials: I
authors.lastname: Boudrigua
authors.affiliation: a Université de Tunis El Manar, Institut Pasteur de Tunis , Laboratoire d'Hématologie Moléculaire et Cellulaire , Tunis , Tunisia.
authors.forename: Dorra
authors.initials: D
authors.lastname: Chaouachi
authors.affiliation: a Université de Tunis El Manar, Institut Pasteur de Tunis , Laboratoire d'Hématologie Moléculaire et Cellulaire , Tunis , Tunisia.
authors.forename: Fethi
authors.initials: F
authors.lastname: Mellouli
authors.affiliation: a Université de Tunis El Manar, Institut Pasteur de Tunis , Laboratoire d'Hématologie Moléculaire et Cellulaire , Tunis , Tunisia.
authors.forename: Mohamed
authors.initials: M
authors.lastname: Bejaoui
authors.affiliation: a Université de Tunis El Manar, Institut Pasteur de Tunis , Laboratoire d'Hématologie Moléculaire et Cellulaire , Tunis , Tunisia.
authors.forename: Salem
authors.initials: S
authors.lastname: Abbes
mesh_terms: D000293:Adolescent; D000483:Alleles; D000755:Anemia, Sickle Cell / Q000097:blood* / Q000175:diagnosis / Q000235:genetics*; D018955:CD36 Antigens / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004909:Erythrocyte Indices; D005091:Exons; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006461:Hemolysis; D006801:Humans; D008297:Male; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D017701:Reticulocyte Count; D012156:Reticulocytes / Q000378:metabolism*; D012720:Severity of Illness Index; D014416:Tunisia
chemical_list: D018955:CD36 Antigens
keywords: CD36; SCD; VLA4; reticulocytes