Protective BCL11A and HBS1L‐MYB polymorphisms in a cohort of 102 Congolese patients suffering from sickle cell anemia
Copyright policy )Protective BCL11A and HBS1L‐MYB polymorphisms in a cohort of 102 Congolese patients suffering from sickle cell anemia
BackgroundWe aimed to investigate the distribution of selected BCL11A and HMIP polymorphisms (SNP's), and to assess the correlation with HPFH in a cohort of sickle cell patients.MethodsA preliminary cross‐sectional study was conducted in 102 patients. Group 1 was composed of patients with HPFH and Group 2 consisted of patients without HbF. We assessed 8 SNPs previously associated with HPFH in cohorts genetically close to the Congolese population. Observed frequencies were compared to expected frequencies.ResultsIn the group 1, at rs7606173, the observed frequency for the genotype GG was significantly higher and the genotype GC was significantly lower than their respective expected frequencies. At rs9399137, the observed frequency of the genotype TT was significantly lower than expected. Conversely, the observed frequency of the genotype TC was significantly higher than expected. The observed frequency of the genotype TT at rs11886868 was significantly lower than the expected whereas the frequency of the genotype TC was significantly higher than observed. The lowest HbF level was recorded in patients with genotype CC at rs11886868.ConclusionIn this preliminary study, the results demonstrate that alleles of some of the 8 studied SNPs are not randomly distributed among patients with or without HPFH in this cohort.
- University of Liège Belgium
- KU Leuven Belgium
- University of Kinshasa Congo (Democratic Republic of)
- Katholieke Universiteit Leuven Belgium
- Wellcome Centre for Human Genetics United Kingdom
Adult, Carrier Proteins/genetics, Kinshasa, Adolescent, Genotype, Genetics & genetic processes, DNA, Intergenic/genetics, Anemia, Sickle Cell, polymorphism, Génétique & processus génétiques, Proto-Oncogene Proteins c-myb, Young Adult, sickle cell anemia, Gene Frequency, GTP-Binding Proteins, BCL11A, Humans, steady state, HSP70 Heat-Shock Proteins, GTP-Binding Proteins/genetics, Child, Fetal Hemoglobin, HSP70 Heat-Shock Proteins/genetics, Nuclear Proteins, Proto-Oncogene Proteins c-myb/genetics, Bantu population, Democratic Republic of Congo, Peptide Elongation Factors, Life sciences, Nuclear Proteins/genetics, Repressor Proteins, Anemia, Sickle Cell/epidemiology/genetics, Cross-Sectional Studies, Democratic Republic of the Congo/epidemiology, HBS1L-MYB, Peptide Elongation Factors/genetics, Africa, Sciences du vivant, Democratic Republic of the Congo, DNA, Intergenic, Carrier Proteins
Adult, Carrier Proteins/genetics, Kinshasa, Adolescent, Genotype, Genetics & genetic processes, DNA, Intergenic/genetics, Anemia, Sickle Cell, polymorphism, Génétique & processus génétiques, Proto-Oncogene Proteins c-myb, Young Adult, sickle cell anemia, Gene Frequency, GTP-Binding Proteins, BCL11A, Humans, steady state, HSP70 Heat-Shock Proteins, GTP-Binding Proteins/genetics, Child, Fetal Hemoglobin, HSP70 Heat-Shock Proteins/genetics, Nuclear Proteins, Proto-Oncogene Proteins c-myb/genetics, Bantu population, Democratic Republic of Congo, Peptide Elongation Factors, Life sciences, Nuclear Proteins/genetics, Repressor Proteins, Anemia, Sickle Cell/epidemiology/genetics, Cross-Sectional Studies, Democratic Republic of the Congo/epidemiology, HBS1L-MYB, Peptide Elongation Factors/genetics, Africa, Sciences du vivant, Democratic Republic of the Congo, DNA, Intergenic, Carrier Proteins
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