SAR1a promoter polymorphisms are not associated with fetal hemoglobin in patients with sickle cell disease from Cameroon

BMC Res Notes. 2017 May 12;10(1):183. doi: 10.1186/s13104-017-2502-3.

Abstract

Background: Reactivation of adult hemoglobin (HbF) is currently a dominant therapeutic approach to sickle cell disease (SCD). In this study, we have investigated among SCD patients from Cameroon, the association of HbF level and variants in the HU-inducible small guanosine triphosphate-binding protein, secretion-associated and RAS-related (SAR1a) protein, previously shown to be associated with HbF after HU treatment in African American SCD patients.

Results: Only patients >5 years old were included; hemoglobin electrophoresis and a full blood count were conducted upon arrival at the hospital. RFLP-PCR was used to describe the HBB gene haplotypes and Gap PCR to investigate the 3.7 kb α-globin gene deletion. The iPLEX Gold Sequenom Mass Genotyping Array and cycle sequencing were used for the genotyping of four selected SNPs in SAR1a (rs2310991; rs4282891; rs76901216 and rs76901220). Genetic analysis was performed using an additive genetic model, under a generalized linear regression framework. 484 patients were studied. No associations were observed between any of the promoter variants and baseline HbF, clinical events or other hematological indices.

Conclusion: The results of this study could be explained by possible population-specificity of some tagging genomic variants associated with HbF production and illustrated the complexity of replicating HbF-promoting variants association results across African populations.

Keywords: Cameroon; Fetal hemoglobin; SAR1a promoter; Sickle cell disease.

MeSH terms

  • Adolescent
  • Adult
  • Anemia, Sickle Cell / genetics*
  • Cameroon
  • Child
  • Child, Preschool
  • Fetal Hemoglobin / genetics*
  • Gene Frequency
  • Genotype
  • Haplotypes
  • Humans
  • Middle Aged
  • Monomeric GTP-Binding Proteins / genetics*
  • Polymorphism, Single Nucleotide*
  • Promoter Regions, Genetic / genetics*
  • Young Adult

Substances

  • Fetal Hemoglobin
  • SAR1A protein, human
  • Monomeric GTP-Binding Proteins