Protective BCL11A and HBS1L-MYB polymorphisms in a cohort of 102 Congolese patients suffering from sickle cell anemia.
BACKGROUND
We 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.


METHODS
A 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.


RESULTS
In 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.


CONCLUSIONS
In 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.
Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo.|Department des Sciences de Bases, Laboratory of Biochemistry and Molecular Biology, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo.|Sickle Cell Center of Yolo, Kinshasa, Democratic Republic of Congo.
Tite Minga
TM
Mikobi
Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo.|Department of Pediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo.|Institut National de Recherche Biomédicale, Kinshasa, Democratic Republic of Congo.
Prosper
P
Tshilobo Lukusa
Division of Hemato-oncology and Nephrology, Department of Pediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo.
Michel Ntetani
http://orcid.org/0000-0002-7479-1170
MN
Aloni
Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo.|Department of Pediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo.|Institut National de Recherche Biomédicale, Kinshasa, Democratic Republic of Congo.|Center for Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium.
Aimé Zola
AZ
Lumaka
Division of Biostatistics and Epidemiology, School of Public Health, University of Kinshasa, Kinshasa, Democratic Republic of Congo.
Didine Kinkodi
DK
Kaba
Center for Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium.
Koenraad
K
Devriendt
Center for Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium.
Gert
G
Matthijs
Division of Hemato-Immuno-Rheumatology, Department of Internal Medicine, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo.
Jean Marie
JM
Mbuyi Muamba
Center for Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium.
Valérie
V
Race
D000293:Adolescent; D000328:Adult; D000755:Anemia, Sickle Cell / Q000453:epidemiology* / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D003430:Cross-Sectional Studies; D021901:DNA, Intergenic / Q000235:genetics*; D015023:Democratic Republic of the Congo / Q000453:epidemiology; D005319:Fetal Hemoglobin; D019204:GTP-Binding Proteins / Q000235:genetics*; D005787:Gene Frequency; D005838:Genotype; D018840:HSP70 Heat-Shock Proteins / Q000235:genetics*; D006801:Humans; D009687:Nuclear Proteins / Q000235:genetics*; D010445:Peptide Elongation Factors / Q000235:genetics*; D020598:Proto-Oncogene Proteins c-myb / Q000235:genetics*; D012097:Repressor Proteins; D055815:Young Adult
C486563:BCL11A protein, human; D002352:Carrier Proteins; D021901:DNA, Intergenic; D018840:HSP70 Heat-Shock Proteins; D009687:Nuclear Proteins; D010445:Peptide Elongation Factors; D020598:Proto-Oncogene Proteins c-myb; D012097:Repressor Proteins; D005319:Fetal Hemoglobin; D019204:GTP-Binding Proteins; C000628258:HBS1L protein, human

BCL11A
; 
HBS1L-MYB
; Africa; Bantu population; Democratic Republic of Congo; Kinshasa; polymorphism; sickle cell anemia; steady state