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

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dc.contributor.authorPule, Gift Dineo
dc.contributor.authorNgo Bitoungui, Valentina Josiane
dc.contributor.authorChemegni, Bernard Chetcha
dc.contributor.authorKengne, Andre Pascal
dc.contributor.authorWonkam, Ambroise
dc.date.accessioned2017-06-23T08:34:07Z
dc.date.available2017-06-23T08:34:07Z
dc.date.issued2017-05-12
dc.date.updated2017-05-14T03:25:57Z
dc.description.abstractBackground: 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-specifcity of some tagging genomic variants associated with HbF production and illustrated the complexity of replicating HbF-promoting variants association results across African populations.
dc.identifier.apacitationPule, G. D., Ngo Bitoungui, V. J., Chemegni, B. C., Kengne, A. P., & Wonkam, A. (2017). SAR1a promoter polymorphisms are not associated with fetal hemoglobin in patients with sickle cell disease from Cameroon. <i>BMC Research Notes</i>, http://hdl.handle.net/11427/24612en_ZA
dc.identifier.chicagocitationPule, Gift Dineo, Valentina Josiane Ngo Bitoungui, Bernard Chetcha Chemegni, Andre Pascal Kengne, and Ambroise Wonkam "SAR1a promoter polymorphisms are not associated with fetal hemoglobin in patients with sickle cell disease from Cameroon." <i>BMC Research Notes</i> (2017) http://hdl.handle.net/11427/24612en_ZA
dc.identifier.citationPule, G. D., Bitoungui, V. J. N., Chemegni, B. C., Kengne, A. P., & Wonkam, A. (2017). SAR1a promoter polymorphisms are not associated with fetal hemoglobin in patients with sickle cell disease from Cameroon. BMC research notes, 10(1), 183.
dc.identifier.ris TY - Journal Article AU - Pule, Gift Dineo AU - Ngo Bitoungui, Valentina Josiane AU - Chemegni, Bernard Chetcha AU - Kengne, Andre Pascal AU - Wonkam, Ambroise AB - 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-specifcity of some tagging genomic variants associated with HbF production and illustrated the complexity of replicating HbF-promoting variants association results across African populations. DA - 2017-05-12 DB - OpenUCT DO - 10.1186/s13104-017-2502-3 DP - University of Cape Town J1 - BMC Research Notes LK - https://open.uct.ac.za PB - University of Cape Town PY - 2017 T1 - SAR1a promoter polymorphisms are not associated with fetal hemoglobin in patients with sickle cell disease from Cameroon TI - SAR1a promoter polymorphisms are not associated with fetal hemoglobin in patients with sickle cell disease from Cameroon UR - http://hdl.handle.net/11427/24612 ER - en_ZA
dc.identifier.urihttp://dx.doi.org/10.1186/s13104-017-2502-3
dc.identifier.urihttp://hdl.handle.net/11427/24612
dc.identifier.vancouvercitationPule GD, Ngo Bitoungui VJ, Chemegni BC, Kengne AP, Wonkam A. SAR1a promoter polymorphisms are not associated with fetal hemoglobin in patients with sickle cell disease from Cameroon. BMC Research Notes. 2017; http://hdl.handle.net/11427/24612.en_ZA
dc.language.isoen
dc.publisherBioMed Central
dc.publisher.departmentDivision of Human Geneticsen_ZA
dc.publisher.facultyFaculty of Health Sciencesen_ZA
dc.publisher.institutionUniversity of Cape Town
dc.rights.holderThe Author(s)
dc.sourceBMC Research Notes
dc.source.urihttps://bmcresnotes.biomedcentral.com/
dc.subject.otherSAR1a promoter
dc.subject.otherFetal hemoglobin
dc.subject.otherSickle cell disease
dc.subject.otherCameroon
dc.titleSAR1a promoter polymorphisms are not associated with fetal hemoglobin in patients with sickle cell disease from Cameroon
dc.typeJournal Article
uct.type.filetypeText
uct.type.filetypeImage
uct.type.publicationResearchen_ZA
uct.type.resourceArticleen_ZA
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