INSIGHTS INTO THE INTERPLAY BETWEEN KIR GENE FREQUENCIES AND CHRONIC HBV INFECTION IN BURKINA FASO

Background/Objective: The receptors of natural killer cells "Killer Cell Immunoglobulin-Like Receptor" (KIR) regulate the activity of Natural killer cells in the innate response against viral infections. To date there is no accurate method to identify high risk groups for cirrhosis and HCC in Sub-Saharan Africa. Therefore, this investigation was undertaken to assess the association between KIR genes frequencies and chronic infection HBV infection in Burkina Faso’s population. Methods: Chronic HBV carriers and healthy patients were selected for this study. The viral load for HBV were performed to confirm the serological status for HBV of the studied cohort. In addition, SSP-PCR was used to characterize the frequencies of KIR genes. Results: The study suggested that inhibitory genes KIR2DL2, KIR2DL3 and activator gene KIR2DS2 (p˂0.001 for all and OR = 2.82; 2.48 and 3.84 respectively) might be associated with chronic stages of HBV infection.  While inhibitory genes KIR3DL1 (p = 0.0018 OR = 0.49), KIR3DL2 (p = 0.005 OR = 0.40), the activator gene KIR2DS1 (p = 0.014 OR = 0.47) and the pseudo gene KIR2DP1 (p = 0.011 OR = 0.49) could be associated with immunity against HBV infection. Patients who carried the KIR3DL2 gene had a high HBV viral load compared to the rest of the study population. Conclusion: Our data showed an evidence of correlation between the propensity of developing chronic HBV infection and certain KIR gene frequencies and that KIR3DL1, KIR3DL2, KIR2DS1 and KIR2DP1 might confer a protective status against chronic HBV infection in Burkina Faso’s patients

Confirmation de l’électrophorèse des sujets drépanocytaires SS et non drépanocytaires par PCR en temps réel au Burkina Faso

La drépanocytose, maladie génétique très répandue dans le monde, a une prévalence élevée au Burkina Faso. Cette étude avait pour objectif de confirmer par PCR en temps réel l’électrophorèse des sujets drépanocytaires SS et non drépanocytaires afin de la proposer comme méthode de diagnostic précoce des hémoglobinopathies. Au total 280 patients ont participé à cette étude dont 86 drépanocytaires âgés de 1 à 15 ans (sujets non enceintes) et 194 femmes enceintes dont le génotype de l’hémoglobine était inconnu mais après l’examen, aucune femme enceinte SS n’a été identifiée. Tous les patients ont effectué les tests de l’électrophorèse de l’hémoglobine (EHb) et la PCR pour la détermination de leurs génotypes. En sus, ceux qui portaient l’hémoglobine SS ont réalisé les analyses de fer sérique, de ferritine et d’hémogramme. Le groupe des drépanocytaires étaient constitués de 41,9% de femmes et 58,1% d’hommes. Le génotypage par PCR chez les femmes enceintes a donné les fréquences génotypiques : AA(82,4%); AC(9,3%); AS(5,2%); CC(3,1%). Tous les tests d’EHb ont été confirmés à 100% par la PCR. La PCR était sensible et spécifique à 100% par rapport aux tests de l’EHb. La PCR qui permet d’effectuer des analyses prénatales et périnatales, différentie également l’hémoglobine S de l’hémoglobine D, et l’hémoglobine C de l’hémoglobine A2. Par conséquent, le test PCR de l’hémoglobine peut être dorénavant recommandé pour les examens de routine des hémoglobinopathies.   Englsih title: Electrophoresis confirmation of SS and non-sickle cell subjects using realtime PCR in Burkina FasoSickle cell disease, a genetic disease that is widespread in the world, has a high prevalence in Burkina Faso. The aim of this study was to confirm the electrophoresis of SS and non-sickle cell subjects by real-time PCR in order to propose it as an early diagnosis method for hemoglobinopathies. A total of 280 patients participated in this study, including 86 sickle aged 1 to 15 years (non-pregnant) cell patients and 194 pregnant women with unknown hemoglobin genotypes and no HbSS pregnant women was detected after Hb genotype analysis. All patients underwent hemoglobin electrophoresis (EHb) and PCR tests to determine their genotypes. In addition, those with SS hemoglobin performed serum iron, ferritin, and hemogram tests. The sickle cell group consisted of 41.9% women and 58.1% men. PCR genotyping in pregnant women yielded the following genotype frequencies: AA (82.4%); AC (9.3%); AS (5.2%); CC (3.1%). All EHb tests were 100% confirmed by PCR. PCR was 100% sensitive and specific compared to EHb tests. PCR, which allows for prenatal and perinatal testing, also differentiates hemoglobin S from hemoglobin D, and hemoglobin C from hemoglobin A2. Therefore, the PCR test for hemoglobin can now be recommended for routine exams of hemoglobinopathies

Glutathione S-transferase M1 (GSTM1) and T1 (GSTT1) variants and breast cancer risk in Burkina Faso

Breast cancer remains the most common cause of cancer mortality in women. The aim of this study was to investigate associations between genetic variability in GSTM1 and GSTT1 and susceptibility to breast cancer

Prevalence of serological markers for Hepatitis B and C Viruses, human immuno-deficiency virus and Treponema pallidum among blood donors in Ouagadougou, Burkina Faso

In Sub-Saharan Africa, transfusion safety remains a challenge due to the high endemicity of blood-borne infections. This study aimed to determining the seroprevalence of human immunodeficiency virus (HIV), hepatitis B (HBV), hepatitis C (HCV), and Treponema pallidum among blood donors in Ouagadougou. This was a retrospective study in blood donor. HIV 1/2 and HCV antibodies and HBsAg were screened and confirmed with two ELISA (Enzyme Linked ImmunoSorbent Assay). While T. pallidum antibodies were also screened and confirmed with two serology tests. Only samples positive for both tests were counted as positive. Prevalence rates were calculated among first-time blood donors. Of 63,779 registered blood donors, 54,113 (84.84%) were first-time donors. Overall seroprevalences of HIV, HBV, HCV and Treponema pallidum were 2.56%, 11.87%, 5.89% and 3.22% respectively. Seroprevalences of HIV-HBV, HBV-HCV, HBV- T. pallidum and HIV-HBV-HCV co-infections were 0.36; 1.21; 0.54 and 0.02 respectively. The study reports that HIV, HBV, HCV and Treponema pallidum seroprevalences remain high among blood donors. These results highlight a potential infectious risk to blood products recipients

Role of Killer cell immunoglobulin-like receptors (KIR) genes in stages of HIV-1 infection among patients from Burkina Faso

A cluster of specialized KIR genes of specialized KIR genes has been shown to be associated with susceptibility or resistance to viral infections in humans. Therefore, this pilot study, this pilot investigation sought to determine the frequencies of KIR genes human immunodeficiency virus type 1( HIV-1) patients and establish their potential clinical involvement in disease progression and staging

Carriage of Ser217Leu and Ala541Thr Variants of ELAC2 Gene and Risk Factors in Patients with Prostate Cancer in Burkina Faso

Background. Genetic factors are one of the significant contributors to prostate cancer (PCa) development, and hereditary prostate cancer 2 (HPC2) locus gene ELAC2 is considered a PCa susceptibility region. The HPC2/ELAC2 gene has been identified by linkage analysis in familial prostate cancer patients in the United States but has never been studied in Burkina Faso. The objective of the present study was to analyze the carriage of the C650T (Ser217Leu) and G1621A (Ala541Thr) mutations of the ELAC2 gene and the risk factors in prostate cancer patients in Burkina Faso. Methods. This case-control study included 76 participants, including 38 histologically confirmed prostate cancer cases and 38 healthy controls without prostate abnormalities. PCR combined with restriction fragment length polymorphism (RFLP) was used to characterize the genotypes of the Ser217Leu and Ala541Thr polymorphisms of the ELAC2 gene. The correlations between the different genotypes and risk factors for prostate cancer were investigated. Results. The C650T mutation was present in 44.73% of prostate cancer cases and 47.37% of controls. The G1621A mutation was present in 26.32% of prostate cancer cases and 15.79% of controls. We did not detect an association between prostate cancer risk and the Ser217Leu (p=0.972) and Ala541Thr (p=0.267) variants of the ELAC2 gene. Also, the two ELAC2 SNPs did not correlate with clinical stage, prostate-specific antigen (PSA) level at diagnosis, or the Gleason score on biopsies. However, we found that 100% of homozygous carriers of the T650 mutation have an A1621 mutation (p≤0.001). Conclusion. Ser217Leu and Ala541Thr polymorphisms of ELAC2, considered alone or in combination, are not associated with prostate cancer risk

Cervical Cancer Induced by Human Papillomaviruses in the Context of Africa: Contribution of Genomics

In recent years, Africa has been increasingly involved in biotechnology and genomics. However, this interest is much more accentuated in the field of agriculture. From published studies, we know that biotechnology and genomics can be of great interest in the health field. Africa would, therefore, benefit from investing in these disciplines, especially since the continent is facing several pandemics and epidemics. The objective of this chapter is to make a review of the applications in genomics already existing in Africa, particularly in Burkina Faso, to show the interest of genomics in the field of health by taking into account the context of developing countries and to specify the possible applications of genomics in the fight against papillomaviridae and their associated cancer