RESUMO
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 â cirrhosis; OR 0,33 p-value 0,017; RHB â 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.
Assuntos
Carcinoma Hepatocelular , Hepatite B , Neoplasias Hepáticas , Humanos , Vírus da Hepatite B/genética , Cadeias HLA-DRB1/genética , Carcinoma Hepatocelular/genética , Alelos , Burkina Faso , Estudos de Coortes , Genótipo , Predisposição Genética para Doença , Neoplasias Hepáticas/genética , Frequência do Gene/genética , Antígenos HLA , Cirrose HepáticaRESUMO
The human immunodeficiency virus (HIV) belongs to the Retroviridae family and remains a public health problem in sub-Saharan Africa. Recent reports from WHO have shown that 33 million people died from HIV infections. HIV is one of the most serious fatal human diseases of the 20th and 21st centuries. However, variations in genetic and immunological factors are associated with protection against HIV infection in uninfected people exposed to HIV. This is the case with naturals killers which play an important role in the progression or regression of HIV infection. The objective of this study is to characterize certain HLA (human leukocyte antigen) class II genes and KIR genes in HIV-1 serodiscordant couples in Burkina Faso. This study was carried out at Burkina Faso among nineteen (19) HIV-1 serodiscordant couples. Classical multiplex PCR (SSP-PCR) was used to characterize the presence or absence of the KIR genes and certain class II HLAs (DRB1*11 and DRB1*12). The characterization of the KIR and HLA genes DRB1*11, DRB1*12 in this study demonstrated that the inhibitor KIR2DL5B, would confer protection against HIV-1 infection in seronegative partners (odd ratio [OR] = 0.13 [0.02-0.72] and p = 0.029), and the HLA DRB1*12 allele was associated with protection against HIV-1 infection in seronegative partners (OR = 0.16 [0.03-0.77] and p = 0.038). AA and Bx haplotypes were not found to be associated with HIV-1 infection in serodiscordant couples. This study confirms the involvement of the KIR genes in viral pathologies such as HIV-1 infection. Future larger-scale studies may provide a better understanding of the molecular mechanism by which the KIR haplotype and combination of KIR/HLA are associated with protection against HIV infection.
Assuntos
Infecções por HIV , Cadeias HLA-DRB1 , Receptores KIR2DL5 , Alelos , Burkina Faso , Frequência do Gene , Predisposição Genética para Doença , Infecções por HIV/genética , Infecções por HIV/prevenção & controle , HIV-1 , Antígenos HLA , Cadeias HLA-DRB1/genética , Haplótipos , Humanos , Receptores KIR2DL5/genéticaRESUMO
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.
Assuntos
Neoplasias da Mama , Proteínas de Ligação a DNA , Endonucleases , Proteína Grupo D do Xeroderma Pigmentoso , Feminino , Humanos , Neoplasias da Mama/genética , Burkina Faso , Estudos de Casos e Controles , Reparo do DNA , Proteínas de Ligação a DNA/genética , Endonucleases/genética , Polimorfismo de Nucleotídeo Único , Proteína Grupo D do Xeroderma Pigmentoso/genéticaRESUMO
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.