Genetic diversity and occult hepatitis B infection in Africa: A comprehensive review.

BACKGROUND: Occult hepatitis B infection (OBI) is a globally prevalent infection, with its frequency being influenced by the prevalence of hepatitis B virus (HBV) infection in a particular geographic region, including Africa. OBI can be transmitted through blood transfusions and organ transplants and has been linked to the development of hepatocellular carcinoma (HCC). The associated HBV genotype influences the infection. AIM: To highlight the genetic diversity and prevalence of OBI in Africa. METHODS: This systematic review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines and involved a comprehensive search on PubMed, Google Scholar, Science Direct, and African Journals Online for published studies on the prevalence and genetic diversity of OBI in Africa. RESULTS: The synthesis included 83 articles, revealing that the prevalence of OBI varied between countries and population groups, with the highest prevalence being 90.9% in patients with hepatitis C virus infection and 38% in blood donors, indicating an increased risk of HBV transmission through blood transfusions. Cases of OBI reactivation have been reported following chemotherapy. Genotype D is the predominant, followed by genotypes A and E. CONCLUSION: This review highlights the prevalence of OBI in Africa, which varies across countries and population groups. The study also demonstrates that genotype D is the most prevalent.

Rotavirus vaccines in Africa and Norovirus genetic diversity in children aged 0 to 5 years old: a systematic review and meta-analysis : Rotavirus vaccines in Africa and Norovirus genetic diversity.

Noroviruses are the second leading cause of death in children under the age of 5 years old. They are responsible for 200 million cases of diarrhoea and 50,000 deaths in children through the word, mainly in low-income countries. The objective of this review was to assess how the prevalence and genetic diversity of noroviruses have been affected by the introduction of rotavirus vaccines in Africa. PubMed, Web of Science and Science Direct databases were searched for articles. All included studies were conducted in Africa in children aged 0 to 5 years old with gastroenteritis. STATA version 16.0 software was used to perform the meta-analysis. The method of Dersimonian and Laird, based on the random effects model, was used for the statistical analyses in order to estimate the pooled prevalence's at a 95% confidence interval (CI). Heterogeneity was assessed by Cochran's Q test using the I2 index. The funnel plot was used to assess study publication bias. A total of 521 studies were retrieved from the databases, and 19 were included in the meta-analysis. The pooled norovirus prevalence's for pre- and post-vaccination rotavirus studies were 15% (95 CI, 15-18) and 13% (95 CI, 09-17) respectively. GII was the predominant genogroup, with prevalence of 87.64% and 91.20% respectively for the pre- and post-vaccination studies. GII.4 was the most frequently detected genotype, with rates of 66.84% and 51.24% respectively for the pre- and post-vaccination studies. This meta-analysis indicates that rotavirus vaccination has not resulted in a decrease in norovirus infections in Africa.

Distribution of high- and low-risk human papillomavirus genotypes and their prophylactic vaccination coverage among West African women: systematic review.

INTRODUCTION: The second most deadly gynecological cancer worldwide, cervical cancer is steadily on the rise in sub-Saharan Africa, while vaccination programs are struggling to get off the ground. This systematic review's aim was to assess the prevalence and distribution of high- and low-risk HPV genotypes in West African women. METHODS: Original studies were retrieved from PubMed/Medline, Embase, Scopus, Google Scholar, and Science Direct. In these studies, Human papillomavirus (HPV) DNA was assessed in cervical samples by polymerase chain reaction (PCR), Hybrid capture, and sequencing. The quality of the articles was assessed and the results were extracted and reviewed. RESULTS: Thirty-nine studies from 10 West African countries were included for the systematic review including 30 for the pooled analysis. From an overall of 17358 participants, 5126 of whom were infected with at least one HPV genotype, the systematic review showed a prevalence varying from 8.9% to 81.8% in the general population. In contrast, the pooled prevalence of infection was 28.6% (n = 3890; 95% CI 27.85-29.38), and HPV-52 (13.3%), HPV-56 (9.3%), and HPV-35 (8.2) were the most frequent. Quadrivalent and nonavalent vaccines covered 18.2% and 55.8% of identified genotypes respectively. CONCLUSION: Faced with this growing public health challenge in West Africa, it would be necessary for all its countries to have reliable data on HPV infection and to introduce the nonavalent vaccine. A study of the genotypic distribution of HPV in high-grade precancerous lesions and cervical cancer would be very useful in West Africa.

Killer cell immunoglobulin-like receptor alleles influence susceptibility to occult hepatitis B infection in West African population.

Occult hepatitis B infection (OBI) is a public health problem in Burkina Faso. OBI represents a risk factor for the development of cirrhosis and hepatocellular carcinoma (HCC). OBI could be due to mutant viruses undetectable by HBsAg assays or a strong suppression of viral replication and gene expression under the pression of the host immune system. To investigate the role of killer cell immunoglobulin-like receptor (KIR) gene polymorphisms in patients with OBI in Burkina Faso compared to healthy and chronic hepatitis B subjects. A total of 286 participants was recruited, including 42 cases of OBI, 110 cases of chronic hepatitis B and 134 HBV negative subjects. SSP-PCR was performed to search for the presence of KIR genes. The HBV viral load was determined by qPCR. The frequencies of the activator gene KIR2DS5 (P=0.045) and the pseudogene KIR2DP1 (P<0.001) in patients with OBI were higher than those in patients with chronic hepatitis B. These genes are associated with susceptibility of occult hepatitis B infection. The frequencies of the inhibitory KIR gene KIR2DL3 (P=0.01) of patients with occult hepatitis B were lower than those in chronic hepatitis B patients. This gene KIR2DL3 is associated with protection against occult hepatitis B infection. Also, the frequencies of the inhibitory KIR genes KIR2DL2 (P<0.001), KIR2DL3 (P<0.001) and activators KIR2DS2 (P<0.001) in chronic hepatitis B patients were higher compared to the frequencies of the KIR genes in healthy subjects. These genes KIR2DL3, KIR2DL5 (A, B), KIR3DL3, KIR3DS1, KIR2DL2 and KIR2DS2 are thought to be genes associated with the susceptibility to OBI. The KIR2DS5 and KIR2DP1 genes could be associated with susceptibility to OBI. As for the KIR gene KIR2DL3 could be associated with protection against occult hepatitis B infection.

Association of HLA-DRB1*11 and HLA-DRB1*12 gene polymorphism with COVID-19 in Burkina Faso.

BACKGROUND: The clinical manifestations of coronavirus disease (COVID-19) can vary widely, ranging from asymptomatic to severe, and may be influenced by the host genetic background. The aim of the present study was to determine the frequencies of HLA-DRB1*11 and HLA-DRB1*12 allele polymorphisms and their associations with COVID-19. METHODS: In this cross-sectional study, 198 subjects were enrolled, including 150 COVID-19 positive cases and 48 subjects who tested negative for COVID-19. Participants were recruited from the emergency, intensive care, and infectious diseases departments of the Bogodogo Centre University Hospital (CHU-B) or the routine laboratory of Centre de Recherche Biomoléculaire Pietro Annigoni (CERBA). Genomic DNA was extracted from nasopharyngeal swabs samples and multiplex PCR-SSP was used to detect the HLA-DRB1*11 and HLA-DRB1*12 alleles. The study was approved by CERS (№ 2021-02-033). RESULTS: The positive cases were categorized into 38 asymptomatic (CC+), 60 symptomatic (NC+), and 52 severe cases (SC+). Females were more frequent in the overall study population (53.0%, 105/198) as well as in the negative group's CC- (68.75%, 33/48) and SC+ (57.69%, 30/52 negative groups, whereas males were more frequent in the CC+ (63.16%, 24/38) and NC+ (53.33%, 32/60) groups. The highest mean age was observed in the SC + group. A frequency of 19.19% (38/198) and 14.65% (29/198) was found for the HLA-DRB1*11 and HLA-DRB1*12 alleles, respectively. Individuals carrying the HLA-DRB1*11 allele had an approximately sixfold higher risk of asymptomatic SARS-CoV-2 infection (OR = 5.72 [1.683-19.442], p = 0.005) based on the association analysis. CONCLUSIONS: Altogether, the present study reports high frequency of HLA-DRB1*11 and HLA-DRB1*12 alleles within a population from Ouagadougou, Burkina Faso. The results suggest that individuals carrying the HLA-DRB1*11 allele are more susceptible to COVID-19 infection but may not display symptoms.

Association of DRB1*11 and DRB1*12 alleles of the HLA system with the evolution of the Hepatitis B virus infection in Burkina Faso.

BACKGROUND: Hepatitis B Virus (HBV) infection affect all social strata of humanity and in the absence of any management, this infection has a different outcome from one infected person to another. This suggests that there are specific individual factors that influence the outcome of the pathology. Sex, immunogenetics and age of contraction of the virus have been cited as factors that influence the evolution of the pathology. In this study, we looked at two alleles of the Human Leucocyte Antigen (HLA) system to measure their possible involvement in the evolution of HBV infection. METHOD AND RESULTS: We conducted a cohort study involving 144 individuals spread over 04 distinct stages of infection and then compared allelic frequencies in these populations. A multiplex PCR was conducted and the data obtained was analyzed using R and SPSS software. Our study revealed a predominance of HLA-DRB1*12 in our study population without, however, showing a significant difference between HLA-DRB1*11 and HLA-DRB1*12. The HLA-DRB1*12 proportion was significantly higher in chronic hepatitis B (CHB) and resolved hepatitis B (RHB) compared to cirrhosis and hepatocellular carcinoma (HCC) (p-value = 0,002). Carrying HLA-DRB1*12 has been associated with a low risk of complication of infection (CHB → cirrhosis; OR 0,33 p-value 0,017; RHB → HCC OR 0,13; p-value = 0,00,045) whereas the presence of HLA-DRB1*11 in the absence of HLA-DRB1*12 increased the risk of developing severe liver disease. However, a strong interaction of these alleles with the environment could modulate the infection. CONCLUSION: Our study shown that HLA-DRB1*12 is the most frequent and it's carriage may be protective in the development of infection.

KIR2DL2, KIR2DL5A and KIR2DL5B Genes Induce Susceptibility to Dengue Virus Infection, while KIR3DL3 and KIR2DS5 Confer Protection.

Background and Objectives: Dengue fever (DF), an emerging and re-emerging viral disease, is a major public health problem. The aim of this study was to investigate the influence of KIRs genes polymorphism and KIRs genotypes in susceptibility to dengue virus infection and disease severity in a population from Burkina Faso through a case-control study. Methods: KIRs genes determination was performed using PCR-SSP in 50 patients infected by dengue virus (DENV) and 54 Healthy controls (HC) subjects who had never been infected. Results: Data analysis showed significant association between frequencies of three KIR genes and dengue virus infection (DF): KIR2DL2 (OR: 7.32; IC: 2.87-18.65; P < 0.001); KIR2DL5A (OR: 15.00, IC: 5.68-39.59; P < 0.001) and KIR2DL5B (OR: 11.43; IC: 4.42-29; P < 0.001). While, KIR3DL3 (OR: 0.13, IC: 0.052-0.32; P < 0.001) and KIR2DS5 (OR: 0.12; IC: 0.04-0.30; P < 0.001) were associated with protection against DF. KIR2DL4 (OR: 9.75; IC95%: 1.33-70.97; p: 0.03) and KIRD3DL1 (OR: 12.00; IC95%: 1.60-90.13; p: 0.02) were associated with an increased risk in the development of secondary dengue infection (SDI). Conclusion: The results suggest a contribution of KIR2DL2, KIR2DL5A, and KIR2DL5B genes in the susceptibility of DF development. In contrast, KIR3DL3 and KIR2DS5 were associated with protection against DF development by enhancing both innate and acquired immune responses.

Seasonal Malaria Chemoprevention Implementation: Effect on Malaria Incidence and Immunity in a Context of Expansion of P. falciparum Resistant Genotypes with Potential Reduction of the Effectiveness in Sub-Saharan Africa.

Seasonal Malaria Chemoprevention (SMC), which combines amodiaquine (AQ) with sulfadoxine-pyrimethamine (SP), is an effective and promising strategy, recommended by WHO, for controlling malaria morbidity and mortality in areas of intense seasonal transmission. Despite the effectiveness of this strategy, a number of controversies regarding the impact of the development of malaria-specific immunity and challenges of the strategy in the context of increasing and expanding antimalarial drugs resistance but also the limited coverage of the SMC in children make the relevance of the SMC questionable, especially in view of the financial and logistical investments. Indeed, the number of malaria cases in the target group, children under 5 years old, has increased while the implementation of SMC is been extended in several African countries. This ambivalence of the SMC strategy, the increase in the prevalence of malaria cases suggests the need to evaluate the SMC and understand some of the factors that may hinder the success of this strategy in the implementation areas. The present review discusses the impact of the SMC on malaria morbidity, parasite resistance to antimalarial drugs, molecular and the immunity affecting the incidence of malaria in children. This approach will contribute to improving the malaria control strategy in highly seasonal transmission areas where the SMC is implemented.

First detection of mutated ERG11 gene in vulvovaginal Candida albicans isolates at Ouagadougou/Burkina Faso.

BACKGROUND: Vulvovaginal candidiasis is an important cause of morbidity among women due to Candida species. In the last decades, resistance to azoles, first-line antifungals has increased. One molecular mechanism of azole resistance by Candida involves mutations in the ERG11 gene encoding lanosterol 14-α-demethylase, the target enzyme. This study was conducted to identify the clinical Candida species associated in vulvovaginal candidiasis; to determine the rate of antifungal resistance among Candida albicans isolates and to determine mutated ERG11 gene at Saint Camille Hospital in Ouagadougou, Burkina Faso. METHODS: Antifungals susceptibility were performed using Kirby-Bauer disk diffusion method. ERG11 gene was detected using conventional PCR in C. albicans isolates resistant to at least one azole. RESULTS: Out of 262 clinical strains isolated, C. albicans accounted for 59.90%, followed by Candida glabrata 27.86%, Candida famata 7.25%, Candida tropicalis 3.05% and Saccharomyces cerevisiae 1.91%. Resistance rate of fluconazole to C. albicans was 59.54%. ERG11 gene was found in 9.79% of 92 C. albicans strains resistant to azoles. CONCLUSIONS: This detection of mutated ERG11 gene in C. albicans is the first in Burkina Faso and may be a cause of azole resistance in recurrent Candida vulvovaginitis.

Glutathione S-transferase M1 and T1 genes deletion polymorphisms and blood pressure control among treated essential hypertensive patients in Burkina Faso.

OBJECTIVE: Glutathione S-transferases have been associated with experimental resistance to some drugs. The present study investigated the factors associated with blood pressure control in patients with essential hypertension, especially the role of GSTT1 and GSTM1 genes polymorphisms. This cross-sectional study in Burkina Faso consisted of 200 patients with essential hypertension and under treatment. RESULTS: In the present study, 57.5% (115/200) of patients had their hypertension under control. No statistically significant difference was found between controlled and uncontrolled groups for anthropometric and biochemical parameters as well as for GSTT1 or GSTM1 gene polymorphisms (all p > 0.05). Current alcohol consumption (OR = 3.04; CI 1.88-6.13; p < 0.001), Physical inactivity (OR = 3.07; CI 1.71-5.49; p < 0.001), severe hypertension before any treatment (Grade III [OR = 3.79; CI 2.00-7.17; p < 0.001]) and heart damage (OR = 3, 14; CI 1.59-6.02; p < 0.001) were statistically more frequent in uncontrolled essential hypertensive patients than controlled hypertensive patients.

Molecular Epidemiology of Human Papillomaviruses, Neisseria gonorrhoeae, Chlamydia trachomatis and Mycoplasma genitalium among Female Sex Workers in Burkina Faso: Prevalence, Coinfections and Drug Resistance Genes.

Viral and bacterial infections represent an occupational risk for female sex workers. This study aimed at determining HPV coinfection with genital pathogens among female sex workers in West and Central Africa and identifying antibiotic resistance genes. A total of 182 samples from female sex workers were analyzed by real-time PCR and classic PCR. For the molecular diagnosis of HPV, the real-time multiplex amplification kit "HPV Genotypes 14 Real-TM Quant" from SACACE Biotechnologies®, detecting 14 high-risk HPV genotypes, was used, while for other pathogens, the real-time multiplex amplification kit N. gonorrhoeae/C. trachomatis/M. genitalium/T. vaginalis Real-TM, allowing their simultaneous detection, was used. The women were aged 17-50 years with an average age of 27.12 ± 6.09 years. The pathogens identified were HPV 54.94% (100/120), Neisseria gonorrhoeae (13.74%), Chlamydia trachomatis (11.54%) and Mycoplasma genitalium (11.54%). The most common HPV genotypes were HPV68, HPV38 and HPV52. The antibiotic resistance genes identified were bla QNR B 24.00%, bla GES 22.00%, bla SHV 17.00%, blaCTX-M 13.00% and bla QNR S 1.00%. This study revealed the presence of various HPV genotypes associated with other pathogens with problems of antibiotic resistance among sex workers of West and Central African origin working in Ouagadougou.

Molecular characterization of high-risk human papillomavirus (HR-HPV) in women in Lomé, Togo.

BACKGROUND: The causative agent of cervical cancer referred to as Human papillomavirus (HPV) remains a real public health problem. Many countries in West Africa, such as Togo have no data on the high-risk HPV (HR-HPV) infection and genotypes distribution. In order to fill the knowledge gap in the field in Togo, the main objective of this study was to determine the prevalence of pre-cancerous lesions of the cervix and HR-HPV genotypes among Togolese women. METHODS: Samples were collected from 240 women by introducing a swab in the cervix. Then, the screening of precancerous cervical lesions using the visual inspection with acetic acid and lugol (VIA / VIL) was conducted. The HR-HPV genotypes were characterised by real-time multiplex PCR. RESULTS: Out of 240 women recruited, 128 (53.3%) were infected by HR-HPV. The most common genotypes were HPV 56 (22.7%), followed by HPV 51 (20.3%), HPV 31 (19.5%), HPV 52 (18.8%) and HPV 35 (17.2%). The least common genotypes were HPV 33 (2.3%) and HPV 16 (2.3%). Among the women, 1.3% (3/240) were positive to VIA/VIL. CONCLUSION: This study allowed HR-HPV genotypes to be characterised for the first time in Lomé, Togo. This will help in mapping the HR-HPV genotypes in West Africa.

Characteristics of Patients With Chronic Hepatitis B Virus Infection With Genotype E Predominance in Burkina Faso.

Hepatitis B virus (HBV) genotype E (HBV-E) accounts for the majority of chronic hepatitis B (CHB) infections in West Africa. We aimed to determine factors associated with HBV-E-induced hepatocellular carcinoma (HCC) in West Africa. Data on patients from Burkina Faso who were hepatitis B surface antigen positive (HBsAg+) and had CHB were analyzed. HBV viral load and hepatitis B e antigen (HBeAg) status were measured in 3,885 individuals with CHB without HCC (CHB HCC-) and 59 individuals with CHB with HCC (CHB HCC+). HBV genotyping was performed for 364 subjects with CHB HCC- and 41 subjects with CHB HCC+. Overall, 2.5% of the CHB HCC- group was HBeAg+ compared with 0% of the CHB HCC+ group. Of the 364 patients who were CHB HCC- with available genotyping, the frequencies of HBV genotypes E and C/E were 70.3% and 12.9%, respectively. Age (odds ratio [OR] for older age, 1.08; 95% confidence interval [CI], 1.06-1.10 per 1-year increase in age), male sex (OR, 2.03; 95% CI, 1.11-3.69), and HBV viremia (OR, 1.48; 95% CI, 1.31-1.67 per 1 log10 IU/mL) were each associated with HCC diagnosis. Patients with genotype E had a lower HBeAg prevalence (6.3% vs. 14.9%), lower HBV viral load, and higher prevalence of cirrhosis (14.5% vs. 4.8%) than patients with genotype C/E. Conclusion: HBV-E is the most common circulating strain (70.3%) in West African patients. HCC was associated with older age, male sex, and high HBV viral load. It is expected that these results will further inform guidance on clinical management of HBV infection in West Africa.

No correlation between the variants of exostosin 2 gene and type 2 diabetes in Burkina Faso population.

Recent genome-wide association studies and replication analyses have reported the association of variants of the exostosin- 2 gene (EXT2) and risk of type 2 diabetes (T2D) in some populations, but not in others. This study aimed to characterize the variants rs1113132, rs3740878 and rs11037909 of EXT2 and to determine the existence of a possible correlation with T2D in Burkina Faso. It is a case-control study undertaken in Burkina Faso in the city of Ouagadougou at the Hospital of Saint Camille of Ouagadougou from December 2014 to June 2015. It relates to 121 type 2 diabetes cases and 134 controls. The genotyping of these polymorphisms was done by real-time PCR using the allelic exclusion method with TaqMan probes. The minor allele frequencies (MAFs) was almost identical in diabetic and control subjects for the all three Single Nucleotide Polymorphisms (SNPs) with no statistical significance, p>0.05: rs1113132 (OR=0.89; p=0.82); rs11037909 (OR=0.89; p=0.74) and rs3740878 (OR=1.52; p=0.42). None of the three polymorphisms studied was associated with the risk of DT2. However, an association between the BMI, age and type 2 diabetes was noted. The variants of EXT2 would not be associated to the risk of T2D in the African black population of Burkina Faso.

Genotypic distribution of human oncogenic papillomaviruses in sexually active women in Burkina Faso: Central, Central-Eastern and Hauts-Bassins regions.

Objective this study was conducted to determine the distribution of high-risk human papillomavirus (HR-HPV) genotypes in women in the general population of three regions of Burkina Faso. Method This multicenter, descriptive cross-sectional study involved 1321 sexually active women in five cities in three regions of Burkina Faso: Central, Central-Eastern and Hauts-Bassins regions. After collection of endocervical specimens, pre-cervical lesions were screened by visual inspection with acetic acid and lugol (VIA / VILI). HR-HPV genotypes were characterized by multiplex real-time PCR after extraction of viral DNA. Results The mean age of women was 31.98 ± 10.09 years. The HR-HPV infection in the three regions ranged from 26.16% to 43.26% with 35.42% as overall prevalence in women. The most common HR-HPV genotypes in descending order were: HPV 56, 52, 66, 59, 39, 51, 18, 35. The prevalence of bivalent vaccine genotypes (HPV16 / 18) was 7.83% against 63.78% of genotypes not covered by HPV vaccine; 36.32% (170/468) of women had multiple concomitant HR-HPV infections. Conclusion this study showed significant regional variation and high prevalence of HR-HPV infection in women. The predominant genotypes differ from those covered by available vaccines in Burkina Faso. These results will help guide our health policies towards better prevention of cervical cancer. The diversity of oncogenic genotypes is sparking a large-scale study in the West African sub-region, particularly in cases of cancer and the introduction of the nonavalent vaccine which includes HPV 52 found among the predominant genotypes in this study.

Glutathione S-transferase M1 and T1 genes deletion polymorphisms and risk of developing essential hypertension: a case-control study in Burkina Faso population (West Africa).

BACKGROUND: Glutathione S-transferases play a key role in the detoxification of persistent oxidative stress products which are one of several risks factors that may be associated with many types of disease processes such as cancer, diabetes, and hypertension. In the present study, we characterize the null genotypes of GSTM1 and GSTT1 in order to investigate the association between them and the risk of developing essential hypertension. METHODS: We conducted a case-control study in Burkina Faso, including 245 subjects with essential hypertension as case and 269 control subjects with normal blood pressure. Presence of the GSTT1 and GSTM1 was determined using conventional multiplex polymerase chain reaction followed by gel electrophoresis analysis. Biochemical parameters were measured using chemistry analyzer CYANExpert 130. RESULTS: Chi-squared test shows that GSTT1-null (OR = 1.82; p = 0.001) and GSTM1-active/GSTT1-null genotypes (OR = 2.33; p <  0.001) were significantly higher in cases than controls; the differences were not significant for GSTM1-null, GSTM1-null/GSTT1-active and GSTM1-null/GSTT1-null (p > 0.05). Multinomial logistic regression revealed that age ≥ 50 years, central obesity, family history of hypertension, obesity, alcohol intake and GSTT1 deletion were in decreasing order independent risk factors for essential hypertension. Analysis by gender, BMI and alcohol showed that association of GSTT1-null with risk of essential hypertension seems to be significant when BMI < 30 Kg/m2, in non-smokers and in alcohol users (all OR ≥ 1.77; p ≤ 0.008). Concerning GSTT1, GSTM1 and cardiovascular risk markers levels in hypertensive group, we found that subjects with GSTT1-null genotype had higher waist circumference and higher HDL cholesterol level than those with GSTT1-active (all p <  0.005), subjects with GSTM1-null genotype had lower triglyceride than those with GSTM1-active (p = 0.02) and subjects with the double deletion GSTM1-null/GSTT1-null had higher body mass index, higher waist circumference and higher HDL cholesterol than those with GSTM1-active/GSTT1-active genotype (all p = 0.01). CONCLUSION: Our results confirm that GSTT1-null genotype is significantly associated with risk of developing essential hypertension in Burkinabe, especially when BMI < 30 Kg/m2, in non-smokers and in alcohol users, and it showed that the double deletion GSTM1-null/GSTT1-null genotypes may influence body lipids repartition.

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

Objectives 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. Methods HIV-1 infected and healthy individuals were selected for this study. Hepatitis B surface antigen (HBsAg), anti-HCV antibodies and anti-HIV-1/2 antibody/ antigen were screened using a 4th generation ELISA assay (Cobas e 411 Analyzer, Roche Diagnostics GmbH Mannheim, Germany). SSP-PCR was used to evaluate the frequencies of KIR genes. CD4+ T counts and HIV-1 viral load were measured in patients using respectively BD FACSCount and Abbott m2000rt instruments. Results We found a significant association between the frequencies of KIR2DL2 (OR=4.41; p < 0.001), KIR2DS2 (OR=4.76; p < 0.001), KIR2DS3 (OR=2.27; p=0.004), KIR2DS4 (OR=1.76; p=0.026), KIR3DS1 (OR=2.43; p=0.016) and HIV-1 infection; whilst the KIR3DL1 gene (OR= 0.39; p < 0.001) was associated with protection against HIV-1 infection. HIV-1 replication was found to be associated with the presence of KIR2DS2 (OR=6.08, p = 0.024). In contrary the pseudogene KIR2DP1 (OR=0.39; p=0.026) were linked to a protective status with the highest number of lymphocyte T CD4 counts. Conclusion Our data showed that KIR2DL2, KIR2DS2, KIR2DS3, KIR2DS4, and KIR3DS1 were significantly associated with HIV-1 infection whereas KIR3DL1 was associated with protection against HIV-1 infection. Further investigations are needed to fully comprehend the clinical significance of KIR genes in HIV disease progression.

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

Background and objective 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. Methods Genomic DNA was extracted from blood samples for 80 cases of histologically diagnosed breast cancer and 100 control subjects. Genotyping analyses were performed by PCR-based methods. Associations between specific genotypes and the development of breast cancer were examined using logistic regression to calculate odds ratios [1] and 95% confidence intervals (95%CI). Results No correlation was found between GSTM1-null and breast cancer (OR = 1.83; 95%CI 0.90-3.71; p = 0.10), while GSTT1-null (OR = 2.42; 95%CI 1.17-5.02; p= 0.01) was associated with increased breast cancer risk. The GSTM1/GSTT1 double null was not associated with an increased risk of developing breast cancer (OR = 2.52; 95%CI 0.75-8.45; p = 0.20). Furthermore, analysis found no association between GSTM1-null (OR =1.12; 95%CI 0.08-15.50; p = 1.00) or GSTT1-null (OR = 1.71; 95%CI 0.13-22.51; p = 1.00) and the disease stage of familial breast cancer patients or sporadic breast cancer patients (GSTM1 (OR = 0.40; 95%CI 0.12-1.32; p = 0.20) and GSTT1 (OR = 1.41; 95%CI 0.39-5.12; p = 0.75)). Also, body mass index (BMI) was not associated with increased or decreased breast cancer risk in either GSTM1-null (OR = 0.60; 95%CI 0.21-1.68; p = 0.44) or GSTT1-null (OR = 0.60; 95%CI 0.21-1.68; p =0.45). Conclusion Our results suggest that only GSTT1-null is associated with increased susceptibility to breast cancer development.

Positive association between ATP2B1 rs17249754 and essential hypertension: a case-control study in Burkina Faso, West Africa.

BACKGROUND: Genetic and environment play a significant role in the etiology of essential hypertension (EH). Recently STK39 rs3754777, ATP2B1 rs2681472 and rs17249754 have been associated with BP variation and hypertension. In this study we aimed to determine firstly whether index variants were associated with the risk of developing EH in Burkina Faso and secondly to characterize cardiovascular risk markers. METHODS: We conducted a case-control study with 380 participants including 180 case subjects with EH and 200 control subjects with normal BP. We used TaqMan genotyping assays with probes from Applied Biosystems to genotype polymorphisms using the 7500 Real-Time PCR System. Biochemical parameters were measured using chemistry analyzer COBAS C311. RESULTS: T-test showed that cardiovascular risk markers such as body mass index, waist circumference, blood sugar, total cholesterol and triglycerides were significantly higher in hypertensive compared to normotensive (all p <  0.05). Binary logistic regression analysis revealed in decreasing order that overweight, family history of hypertension, central obesity and alcohol intake increased the risk of developing EH (all OR > 3.8; all p <  0.001). In genetic level we observed that individuals carrying the AA+AG genotype of ATP2B1 rs17249754 had a low risk of developing EH than those carrying the GG genotype (OR = 0.48 [95% CI: 0.31-0.75] p = 0.001) and the A allele frequency in the cases was significantly lower than that of the controls (OR = 0.56 [95% CI: 0.38-0.82] p = 0.003). We also observed that ATP2B1 rs17249754 was significantly associated with higher SBP and DPB in case and control groups (GG versus AG + AA; p <  0.05), ATP2B1 rs2681472 was significantly associated with higher SBP only in case and control group (AA versus AG + GG; p <  0.05), STK39 rs3754777 was not significantly associated with any of the BP traits (CC versus CT + TT; p > 0.05). CONCLUSION: Our results confirmed the significant association of ATP2B1 rs17249754 with the risk of developing EH in Burkinabe and showed an increase of cardiovascular risk markers levels in subjects with EH.