Genotyping the BCL11A Single Nucleotide Polymorphism and Associated Levels of Fetal Hemoglobin in Mauritanian Sickle Cell Patients.

Autor:	Taleb Brahim A; Unité de Recherche Génomes et Milieux, Faculté des Sciences et Techniques, Université de Nouakchott, Nouveau Campus Universitaire, BP 5026, Nouakchott, Mauritanie.; Department of Molecular Research, Maurilab Medical Analysis and Research Institute, 2434 Nouakchott, Mauritania., Taleb M; Department of Molecular Research, Maurilab Medical Analysis and Research Institute, 2434 Nouakchott, Mauritania., Soumaré H; The African Centre of Excellence for Genomics of Infectious Diseases, Redeemer's University, 232101 Ede, Nigeria., Ghaber SM; Department of Molecular Research, Maurilab Medical Analysis and Research Institute, 2434 Nouakchott, Mauritania.; Faculté de Médecine, de Pharmacie et d'Odonto-stomatologie, Université de Nouakchott, Nouveau Campus Universitaire, BP 880 Nouakchott, Mauritanie., Mohamed A; Unité de Recherche Génomes et Milieux, Faculté des Sciences et Techniques, Université de Nouakchott, Nouveau Campus Universitaire, BP 5026, Nouakchott, Mauritanie.; Department of Molecular Research, Maurilab Medical Analysis and Research Institute, 2434 Nouakchott, Mauritania., Ould Mohamed Salem Boukhary A; Unité de Recherche Génomes et Milieux, Faculté des Sciences et Techniques, Université de Nouakchott, Nouveau Campus Universitaire, BP 5026, Nouakchott, Mauritanie.
Jazyk:	angličtina
Zdroj:	Frontiers in bioscience (Scholar edition) [Front Biosci (Schol Ed)] 2024 Jun 12; Vol. 16 (2), pp. 11.
DOI:	10.31083/j.fbs1602011
Abstrakt:	Background: Sickle cell disease (SCD) is a major heritable genetic disease in sub-Saharan Africa, including Mauritania. Fetal hemoglobin (HbF) can affect the pathophysiology, moderate the clinical course, and offer prospects for curative treatment of SCD. This study aimed to investigate the influence of single nucleotide polymorphisms (SNPs) in the BCL11A gene on the levels of HbF and hematological parameters in Mauritanian sickle cell ( HbSS ) patients. Methods: Complete blood count was assessed in 565 patients suspected to have SCD. Polymerase chain reaction (PCR)-restriction fragment length polymorphism was performed to identify the HbSS , and sequencing was used for genotyping three SNPs: rs4671393 ( A>G ) and rs11886868 ( C>T ) in the intron 2 and rs1052520 ( G>A ) in the 3'UTR regions of the BCL11A gene in 50 sickle cell patients. Results: The prevalence of HbSS among the study population was 8.8% (50/565), and the mean (± standard deviation) of HbF level was 15.0% (± 6.0%). Sequencing showed the presence of three genotypes: AA (13.6%), AG (46.6%), GG (39.6%) in rs4671393; CC (17.6%), CT (48.7%), and TT (33.6%) in rs11886868 . All samples from HbSS individuals displayed a wild-type genotype in the rs1052520 allele. The prevalence of minor alleles A ( rs4671393 ) and C ( rs11886868 ) were 37% and 39%, respectively. There was a statistically significant association ( p = 0.034) between rs4671393 SNP and elevated HbF (mean 12.72 ± 6.26%). Conclusions: The study of three SNPs in the BCL11A locus in Mauritanian patients with SCD showed a significant association of rs4671393 allele with the HbF level. Further research is needed to explore additional SNPs in the BCL11A locus and investigate other genetic markers reported to modulate HbF levels, such as HBS1L-MYB and Xmn1-HBG2 , to improve the management of this potentially life-threatening condition in Mauritania. Competing Interests: The authors declare no conflict of interest. (© 2024 The Author(s). Published by IMR Press.)
Databáze:	MEDLINE
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