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Title

Association between Variants at BCL11A Erythroid-Specific Enhancer and Fetal Hemoglobin Levels among Sickle Cell Disease Patients in Cameroon: Implications for Future Therapeutic Interventions

Authors
Pule, Gift Dineo
Ngo Bitoungui, Valentina Josiane
Chetcha Chemegni, Bernard
Kengne, Andre Pascal
Published in OMICS: A Journal of Integrative Biology. 2015, vol. 19, no. 10, p. 627-631
Abstract Variants in BCL11A were previously associated with fetal hemoglobin (HbF) levels among Cameroonian sickle cell disease (SCD) patients, however explaining only ∼2% of the variance. In the same patients, we have investigated the relationship between HbF and two SNPs in a BCL11A erythroid-specific enhancer (N = 626). Minor allele frequencies in rs7606173 and rs1427407 were 0.42 and 0.24, respectively. Both variants were significantly associated with HbF levels (p = 3.11e-08 and p = 6.04e-06, respectively) and explained 8% and 6.2% variations, respectively. These data have confirmed a stronger effect on HbF of genomic variations at the BCL11A erythroid-specific enhancer among patients with SCD in Cameroon, the first report on a West African population. The relevance of these findings is of prime importance because the disruption of this enhancer would alter BCL11A expression in erythroid precursors and thus HbF expression, while sparing the induced functional challenges of any alterations on the expression of this transcription factor in non-erythroid lineages, thus providing an attractive approach for new treatment strategies of SCD.
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PMID: 26393293
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Article (Published version) (137 Kb) - private document Private access
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Research group Pathologie Moléculaire de la Trisomie 21 et le Génome Humain (248)
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PULE, Gift Dineo et al. Association between Variants at BCL11A Erythroid-Specific Enhancer and Fetal Hemoglobin Levels among Sickle Cell Disease Patients in Cameroon: Implications for Future Therapeutic Interventions. In: OMICS: A Journal of Integrative Biology, 2015, vol. 19, n° 10, p. 627-631. https://archive-ouverte.unige.ch/unige:78000

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Deposited on : 2015-12-01

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