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

 

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dc.contributor.author Pule, Gift Dineo
dc.contributor.author Ngo Bitoungui, Valentina Josiane
dc.contributor.author Chemegni, Bernard Chetcha
dc.contributor.author Kengne, Andre Pascal
dc.contributor.author Wonkam, Ambroise
dc.date.accessioned 2017-06-23T08:34:07Z
dc.date.available 2017-06-23T08:34:07Z
dc.date.issued 2017-05-12
dc.identifier.citation Pule, 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.uri http://dx.doi.org/10.1186/s13104-017-2502-3
dc.identifier.uri http://hdl.handle.net/11427/24612
dc.description.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-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.language.iso en
dc.publisher BioMed Central
dc.source BMC Research Notes
dc.source.uri https://bmcresnotes.biomedcentral.com/
dc.subject.other SAR1a promoter
dc.subject.other Fetal hemoglobin
dc.subject.other Sickle cell disease
dc.subject.other Cameroon
dc.title SAR1a promoter polymorphisms are not associated with fetal hemoglobin in patients with sickle cell disease from Cameroon
dc.type Journal Article
dc.type Journal Article en_ZA
dc.date.updated 2017-05-14T03:25:57Z
dc.rights.holder The Author(s)
uct.type.publication Research en_ZA
uct.type.resource Article en_ZA
dc.publisher.institution University of Cape Town
dc.publisher.faculty Faculty of Health Sciences en_ZA
dc.publisher.department Division of Human Genetics en_ZA
uct.type.filetype Text
uct.type.filetype Image


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