SAR1a promoter polymorphisms are not associated with fetal hemoglobin in patients with sickle cell disease from Cameroon
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-bindi...
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| Format: | Article |
| Language: | English |
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BMC
2017-05-01
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| Series: | BMC Research Notes |
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| Online Access: | http://link.springer.com/article/10.1186/s13104-017-2502-3 |
| _version_ | 1811269386871242752 |
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| author | Gift Dineo Pule Valentina Josiane Ngo Bitoungui Bernard Chetcha Chemegni Andre Pascal Kengne Ambroise Wonkam |
| author_facet | Gift Dineo Pule Valentina Josiane Ngo Bitoungui Bernard Chetcha Chemegni Andre Pascal Kengne Ambroise Wonkam |
| author_sort | Gift Dineo Pule |
| collection | DOAJ |
| 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-specificity of some tagging genomic variants associated with HbF production and illustrated the complexity of replicating HbF-promoting variants association results across African populations. |
| first_indexed | 2024-04-12T21:39:47Z |
| format | Article |
| id | doaj.art-74a6d8a1be24478b9b9f38e75f3c0561 |
| institution | Directory Open Access Journal |
| issn | 1756-0500 |
| language | English |
| last_indexed | 2024-04-12T21:39:47Z |
| publishDate | 2017-05-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Research Notes |
| spelling | doaj.art-74a6d8a1be24478b9b9f38e75f3c05612022-12-22T03:15:47ZengBMCBMC Research Notes1756-05002017-05-011011510.1186/s13104-017-2502-3SAR1a promoter polymorphisms are not associated with fetal hemoglobin in patients with sickle cell disease from CameroonGift Dineo Pule0Valentina Josiane Ngo Bitoungui1Bernard Chetcha Chemegni2Andre Pascal Kengne3Ambroise Wonkam4Division of Human Genetics, Department of Pathology, Faculty of Health Sciences, University of Cape TownFaculty of Medicine and Biomedical Sciences, University of YaoundéFaculty of Medicine and Biomedical Sciences, University of YaoundéNon-Communicable Diseases Research Unit, South African Medical Research CouncilDivision of Human Genetics, Department of Pathology, Faculty of Health Sciences, University of Cape TownAbstract 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.http://link.springer.com/article/10.1186/s13104-017-2502-3SAR1a promoterFetal hemoglobinSickle cell diseaseCameroon |
| spellingShingle | Gift Dineo Pule Valentina Josiane Ngo Bitoungui Bernard Chetcha Chemegni Andre Pascal Kengne Ambroise Wonkam SAR1a promoter polymorphisms are not associated with fetal hemoglobin in patients with sickle cell disease from Cameroon BMC Research Notes SAR1a promoter Fetal hemoglobin Sickle cell disease Cameroon |
| title | SAR1a promoter polymorphisms are not associated with fetal hemoglobin in patients with sickle cell disease from Cameroon |
| title_full | SAR1a promoter polymorphisms are not associated with fetal hemoglobin in patients with sickle cell disease from Cameroon |
| title_fullStr | SAR1a promoter polymorphisms are not associated with fetal hemoglobin in patients with sickle cell disease from Cameroon |
| title_full_unstemmed | SAR1a promoter polymorphisms are not associated with fetal hemoglobin in patients with sickle cell disease from Cameroon |
| title_short | SAR1a promoter polymorphisms are not associated with fetal hemoglobin in patients with sickle cell disease from Cameroon |
| title_sort | sar1a promoter polymorphisms are not associated with fetal hemoglobin in patients with sickle cell disease from cameroon |
| topic | SAR1a promoter Fetal hemoglobin Sickle cell disease Cameroon |
| url | http://link.springer.com/article/10.1186/s13104-017-2502-3 |
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