Open AccessProtective BCL 11A and HBS 1L‐ MYB polymorphisms in a cohort of 102 Congolese patients suffering from sickle cell anemia
Author(s) -
Mikobi Tite Minga,
Tshilobo Lukusa Prosper,
Aloni Michel Ntetani,
Lumaka Aimé Zola,
Kaba Didine Kinkodi,
Devriendt Koenraad,
Matthijs Gert,
Mbuyi Muamba Jean Marie,
Race Valérie
Publication year - 2018
Publication title -
journal of clinical laboratory analysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 50
eISSN - 1098-2825
pISSN - 0887-8013
DOI - 10.1002/jcla.22207
Subject(s) - genotype , cohort , genotype frequency , snp , allele frequency , fetal hemoglobin , allele , genetics , biology , population , single nucleotide polymorphism , medicine , immunology , gene , pregnancy , fetus , environmental health
Background We aimed to investigate the distribution of selected BCL 11A 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 SNP s 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. Conclusion In this preliminary study, the results demonstrate that alleles of some of the 8 studied SNP s are not randomly distributed among patients with or without HPFH in this cohort.