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1.
J Public Health Afr ; 14(9): 2586, 2023 Oct 01.
Article in English | MEDLINE | ID: mdl-37908389

ABSTRACT

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.

2.
BMC Med Genomics ; 16(1): 246, 2023 10 16.
Article in English | MEDLINE | ID: mdl-37845715

ABSTRACT

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.


Subject(s)
COVID-19 , Male , Female , Humans , HLA-DRB1 Chains/genetics , Gene Frequency , Burkina Faso , Cross-Sectional Studies , COVID-19/genetics , SARS-CoV-2/genetics , Polymorphism, Genetic , Alleles , Genetic Predisposition to Disease
3.
Pan Afr Med J ; 44: 63, 2023.
Article in English | MEDLINE | ID: mdl-37187595

ABSTRACT

Introduction: antiretroviral therapy enables the suppression of the plasma viral load and the restoration of immune responses. Therapeutic failures are still observed in patients living with HIV despite the considerable benefits of antiretroviral therapy. This study aimed to describe the long-term evolution of immunological and virological parameters in patients undergoing treatments for HIV-1 at the Day Hospital of Bobo-Dioulasso in Burkina Faso. Methods: a retrospective descriptive and analytical study covering 10 years from 2009 was conducted at the Sourô Sanou University Hospital Center (CHUSS) in Bobo-Dioulasso. HIV-1-positive patients with at least two viral load measurements and two CD4 T cell counts were included in this study. Excel 2019 and RStudio were used to analyze the data. Results: a total of 265 patients were included in this study. The mean age of the patients was 48 ± 8.98 years and women accounted for 77.7% of the study population. A considerable decrease in the number of patients with TCD4 lymphocytes below 200 cells/µl from year 2 of treatment and a progressive increase in those with TCD4 lymphocytes above 500 cells/µl were observed in the study. Regarding the evolution of viral load, an increase in the proportions of patients with an undetectable viral load and a decrease in those with a viral load greater than 1000 copies/ml were noticed in years 2, 5, 6, and 8 of the follow-up. However, a decrease in the proportions of patients with undetectable viral load and an increase in those with viral load above 1000 copies/ml were observed in the years 4, 7, and 10 of follow-up. Conclusion: this study highlighted the different trends of viral load and LTCD4 evolution over 10 years of antiretroviral treatment. It showed a good immunovirological response was shown at the beginning of antiretroviral therapy, and then, a poor evolution of these markers at certain periods during the follow-up of HIV-positive patients.


Subject(s)
HIV Infections , HIV-1 , Humans , Female , Adult , Middle Aged , Retrospective Studies , Burkina Faso/epidemiology , HIV Infections/epidemiology , Hospitals, University
4.
Mol Genet Genomic Med ; 11(4): e2134, 2023 04.
Article in English | MEDLINE | ID: mdl-36594475

ABSTRACT

BACKGROUND: Genetic alterations can result in DNA repair defects, increasing susceptibility to breast cancer. The aim of this study was to evaluate the involvement of two DNA repair genes, ERCC1 (rs3212986, GenBank NC_000073.9) and ERCC2 (rs1799793, rs13181, GenBank: NC_000019.10) in the occurrence of breast cancer in Burkina Faso. METHODS: This case-control study enrolled 128 participants including 64 patients and 64 healthy controls. Genotyping of polymorphisms were performed by real-time PCR and PCR-RFLP. RESULTS: The heterozygous AC genotype of the ERCC2rs13181 polymorphism was associated with the occurrence of breast cancer when the mutant allele is inherited under the dominant pattern (CC/AC vs AA; OR = 2.74, 95% IC (1.09-6.87); p = .028), but this association became insignificant after the Bonferroni correction (p = .156). No association was observed between ERCC1rs3212986 and ERCC2rs1799793 polymorphisms and breast cancer risk. CONCLUSION: This study showed that the heterozygous genotype (CA) of the ERCC2rs13181 polymorphism may be associated with a risk of breast cancer.


Subject(s)
Breast Neoplasms , DNA-Binding Proteins , Endonucleases , Xeroderma Pigmentosum Group D Protein , Female , Humans , Breast Neoplasms/genetics , Burkina Faso , Case-Control Studies , DNA Repair , DNA-Binding Proteins/genetics , Endonucleases/genetics , Polymorphism, Single Nucleotide , Xeroderma Pigmentosum Group D Protein/genetics
5.
BMC Med Genomics ; 15(1): 123, 2022 06 02.
Article in English | MEDLINE | ID: mdl-35655265

ABSTRACT

BACKGROUND: Prostate cancer (Pca) is a public health problem that affects men, usually of middle age or older. It is the second most common cancer diagnosed in men and the fifth leading cause of death. The RNASEL gene located in 1q25 and identified as a susceptibility gene to hereditary prostate cancer, has never been studied in relation to prostate cancer in Burkina Faso. The aim of this study was to analyze the carriage of RNASEL R462Q and D541E mutations and risks factors in patients with prostate cancer in the Burkina Faso. METHODS: This case-control study included of 38 histologically diagnosed prostate cancer cases and 53 controls (cases without prostate abnormalities). Real-time PCR genotyping of R462Q and D541E variants using the TaqMan® allelic discrimination technique was used. Correlations between different genotypes and combined genotypes were investigated. RESULTS: The R462Q variant was present in 5.3% of cases and 7.5% of controls. The D541E variant was present in 50.0% of cases and 35% of controls. There is no association between R462Q variants (OR = 0.60; 95%IC, 0.10-3.51; p = 0.686) and D541E variants (OR = 2.46; 95%IC, 0.78-7.80; p = 0.121) and genotypes combined with prostate cancer. However, there is a statistically significant difference in the distribution of cases according to the PSA rate at diagnosis (p ˂ 0.001). For the Gleason score distribution, only 13.2% of cases have a Gleason score greater than 7. There is a statistically significant difference in the Gleason score distribution of cases (p ˂ 0.001). CONCLUSIONS: These variants, considered in isolation or in combination, are not associated with the risk of prostate cancer.


Subject(s)
Endoribonucleases , Prostatic Neoplasms , Burkina Faso , Case-Control Studies , Endoribonucleases/genetics , Humans , Male , Middle Aged , Mutation , Prostatic Neoplasms/genetics , Prostatic Neoplasms/pathology , Risk Factors
6.
Prostate Cancer ; 2022: 3610089, 2022.
Article in English | MEDLINE | ID: mdl-36643816

ABSTRACT

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.

7.
Rev. int. sci. méd. (Abidj.) ; 24(1): 85-92, 2022. figures, tables
Article in French | AIM (Africa) | ID: biblio-1396938

ABSTRACT

Contexte/objectif : La maladie à coronavirus (COVID-19) est une maladie émergente, dont l'agentpathogène est le virus du syndrome respiratoire aigu sévère dû au coronavirus 2 (SRAS-CoV-2). L'objectif de cette étudeétait de décrire le profil virologique et clinique des patients diagnostiqués dans deux laboratoires. Matériels et méthodes : Il s'est agi d'uneétude descriptive avec collecte rétrospective de données des patients atteints de COVID-19, qui a couvert la période du 04 avril au 31 décembre 2020. Le test de khi deux et le test exact de Fisher sont les tests statistiques utilisées. Résultats : Au total, 28 872 échantillons ont été testés dans les deux laboratoires. L'étude arévélé 1965 cas positifs soit 6, 80% (63 % hommes et 37,05 % femmes). La tranche d'âge de 20 à 50 ans représentait 68,68 %. La province de la capitale a enregistré autant le plus grand nombre d'échantillons (26277 soit91,00%) que le plus grand nombre des cas positifs (91,15%). Les manifestations cliniques étaient dominées par la toux 68,42%, la fatigue générale (43,86%), les céphalées (43,86%), l'écoulement nasal (40,93%), la fi èvre (39,18%). Les comorbidités les plus fréquentes étaient l'hypertension artérielle (HTA) et le diabète. Conclusion: Cette étude a montré unepopulation jeune testée. La capitale (Ouagadougou) a enregistré le plus grand nombre de demandeurs de tests et de cas positifs. La toux était la principale manifestation clinique. Les patients avec comorbidités dont l'HTA et le diabète ont été les plus nombreux a effectué le test


Background/Purpose. Coronavirus disease (COVID-19) is an emerging disease, whose pathogen is the severe acute respiratory syndrome virus due to coronavirus 2 (SARS-CoV-2). The objective of this study was to describe the virological and clinical profile of patients diagnosed in two laboratories. Methods. This was a descriptive study with retrospective data collection of patients with COVID-19, which covered the period from 04 April to 31 December 2020. Chisquare test and Fisher's exact test were used as statistical tests. Results. A total of 28,872 samples were tested in the two laboratories. The study revealed 1965 positive cases or 6, 80% (63% male and 37.05% female). The age group 20-50 years represented 68.68%. The capital province recorded both the largest number of samples (26277 or 91.00%) and the largest number of positive cases (91.15%). Clinical manifestations were dominated by cough 68.42%, general fatigue (43.86%), headache (43.86%), nasal discharge (40.93%), fever (39.18%). The most frequent comorbidities were arterial hypertension (AH) and diabetes. Conclusion. This study showed a young population tested. The capital (Ouagadougou) recorded the highest number of testers and positive cases. Cough was the main clinical manifestation. Patients with comorbidities including hypertension and diabetes were the most numerous to be tested


Subject(s)
Virology , Diagnosis , COVID-19 , Laboratories, Clinical
8.
Open Life Sci ; 16(1): 1101-1110, 2021.
Article in English | MEDLINE | ID: mdl-34712820

ABSTRACT

Several factors contribute to the development of breast cancer, including the immune system. This study is aimed to characterize the carriage of human leukocyte antigen (HLA)-DRB1*11 and 1*12 alleles in patients with breast cancer. This case-control study consisted of 96 histologically diagnosed breast cancer cases and 102 controls (cases without breast abnormalities). A multiplex polymerase chain reaction (PCR) was used to characterize the carriage of HLA-DRB1*11 and 1*12 alleles. The HLA-DRB1*11 allele was present in 26.59% of cases and 22.55% of controls. The HLA-DRB1*12 allele was present in 56.63% of cases and 55.88% of controls. This study found no direct association between the carriage of the HLA-DRB1*11 and HLA-DRB1*12 alleles and the occurrence of breast cancer. In addition, the deletion of the HLA-DRB1*11 allele is associated (beneficial effect) with obesity/overweight (OR = 0.13; 95% CI [0.01-1.14]; and p = 0.03) which is a risk for breast cancer. No direct association was found between the carriage of HLA-DRB1*11 and 1*12 alleles and breast cancer risk. However, further investigation of other HLA alleles involved in the occurrence of breast cancer may provide more information.

9.
BMC Res Notes ; 14(1): 244, 2021 Jun 30.
Article in English | MEDLINE | ID: mdl-34193266

ABSTRACT

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.


Subject(s)
Genetic Predisposition to Disease , Hypertension , Blood Pressure , Burkina Faso , Case-Control Studies , Cross-Sectional Studies , Genotype , Glutathione Transferase/genetics , Humans , Hypertension/drug therapy , Hypertension/genetics , Polymorphism, Genetic
10.
J Public Health Afr ; 11(1): 1233, 2020 Apr 29.
Article in English | MEDLINE | ID: mdl-33209235

ABSTRACT

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.

11.
BMC Med Genet ; 21(1): 55, 2020 03 19.
Article in English | MEDLINE | ID: mdl-32188413

ABSTRACT

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.


Subject(s)
Essential Hypertension/genetics , Glutathione Transferase/genetics , Polymorphism, Genetic , Sequence Deletion , Adult , Alcohol Drinking/blood , Alcohol Drinking/epidemiology , Body Mass Index , Burkina Faso/epidemiology , Case-Control Studies , Essential Hypertension/blood , Essential Hypertension/epidemiology , Female , Genetic Predisposition to Disease , Genotype , Humans , Lipids/blood , Loss of Function Mutation , Male , Middle Aged , Risk Factors , Smoking/blood , Smoking/epidemiology
12.
Biomol Concepts ; 10(1): 226-236, 2019 Dec 19.
Article in English | MEDLINE | ID: mdl-31863692

ABSTRACT

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.


Subject(s)
HIV Infections/genetics , Receptors, KIR/genetics , Adolescent , Adult , Aged , Burkina Faso , Case-Control Studies , DNA, Viral/genetics , DNA, Viral/immunology , DNA, Viral/isolation & purification , Female , HIV Infections/blood , HIV Infections/immunology , Humans , Male , Middle Aged , Receptors, KIR/blood , Receptors, KIR/immunology , Young Adult
13.
Biomol Concepts ; 10(1): 175-183, 2019 Nov 09.
Article in English | MEDLINE | ID: mdl-31707358

ABSTRACT

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.


Subject(s)
Breast Neoplasms/genetics , Glutathione Transferase/genetics , Polymorphism, Single Nucleotide , Adult , Aged , Burkina Faso , Female , Humans , Loss of Function Mutation , Middle Aged
14.
BMC Cardiovasc Disord ; 19(1): 155, 2019 06 26.
Article in English | MEDLINE | ID: mdl-31242870

ABSTRACT

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.


Subject(s)
Blood Pressure/genetics , Essential Hypertension/genetics , Plasma Membrane Calcium-Transporting ATPases/genetics , Polymorphism, Single Nucleotide , Adult , Burkina Faso/epidemiology , Case-Control Studies , Essential Hypertension/diagnosis , Essential Hypertension/epidemiology , Essential Hypertension/physiopathology , Female , Genetic Association Studies , Genetic Predisposition to Disease , Humans , Male , Middle Aged , Phenotype , Risk Assessment , Risk Factors
15.
Mediterr J Hematol Infect Dis ; 10(1): e2018060, 2018.
Article in English | MEDLINE | ID: mdl-30416692

ABSTRACT

BACKGROUND/OBJECTIVE: Hepatitis B virus (HBV) infection is the leading risk factor for cirrhosis and hepatocellular carcinoma (HCC). The objective of this investigation was to assess the association between "Killer Cell Immunoglobulin-Like Receptor" (KIR) gene frequencies and chronic HBV infection. METHODS: Chronic HBV carriers and healthy patients were selected for this study. The viral load for HBV were performed, and SSP-PCR was used to characterize the frequencies of KIR genes. RESULTS: The study suggested that inhibitory genes KIR2DL2 (crude OR = 2.82; p < 0.001), KIR2DL3 (crude OR = 2.49; p < 0.001) and activator gene KIR2DS2 (crude OR = 3.95; p< 0.001) might be associated with chronic stages of HBV infection. Conversely the inhibitory genes KIR3DL1 (crude OR = 0.49; p = 0.0018) and KIR3DL2 (crude OR = 0.41; p = 0.005), the activator gene KIR2DS1 (crude OR = 0.48; p = 0.014) and the pseudo gene KIR2DP1 (crude OR = 0.49; p = 0.008) could be associated with immunity against HBV infection. Chronic HBV patients who are carriers for the KIR3DL3 gene (crude OR = 8; p = 0.048) were positive for HBeAg and patients who carried the KIR3DL2 gene (crude OR = 3.21; p = 0.012) had a high HBV viral load compared to the rest of the study population. CONCLUSION: Our data showed evidence of a correlation between the risk of developing chronic HBV infection and certain KIR gene frequencies and also show that KIR3DL1, KIR3DL2, KIR2DS1 might confer a protective status against chronic HBV infection.

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