Subject(s)
Congenital Abnormalities/virology , Fetus/abnormalities , Milk, Human/virology , Nervous System Diseases/virology , Zika Virus/isolation & purification , Adult , Body Fluids/virology , Brazil , Congenital Abnormalities/diagnostic imaging , Female , Fetus/diagnostic imaging , Fetus/virology , Genotype , Humans , Infant, Newborn , Mothers , Nervous System Diseases/diagnostic imaging , Phylogeny , Pregnancy , RNA, Viral/analysis , RNA, Viral/urine , Ultrasonography , Zika Virus/geneticsABSTRACT
GLUT is the major glucose transporter in mammalian cells. Single nucleotide polymorphisms (SNP) at GLUT1 promoter and regulatory regions have been associated to the risk of developing nephropathy in different type 1 and type 2 diabetic populations. It has been demonstrated that differences in allelic and genotypic frequencies of GLUT1 gene (SLC2A1) polymorphisms occur among different populations. Therefore, ethnic differences in distribution of GLUT1 gene polymorphisms may be an important factor in determining gene-disease association. In this study, we investigated the XbaIG > T and HaeIIIT > C polymorphisms in six different Brazilian populations: 102 individuals from Salvador population (Northern Brazil), 56 European descendants from Joinville (South Brazil), 85 Indians from Tiryió tribe (North Brazil) and 127 samples from Southern Brazil: 44 from European descendants, 42 from African descendants and 41 from Japanese descendants. Genotype frequencies from both sites did not differ significantly from those expected under the Hardy-Weinberg equilibrium. We verified that the allele frequencies of both polymorphisms were heterogeneous in these six Brazilian ethnic groups.
Subject(s)
Deoxyribonucleases, Type II Site-Specific/metabolism , Ethnicity/genetics , Gene Frequency/genetics , Glucose Transporter Type 1/genetics , Polymorphism, Single Nucleotide/genetics , Brazil , Genotype , HumansABSTRACT
Fas (TNFRSF6/Apo-1/CD95) is a type I transmembrane receptor, which mediates apoptosis. Fas gene mutations, aberrant transcripts, and abundant expression of Fas have been reported in adult T cell leukemia (ATL). To further elucidate the role of Fas in ATL pathogenesis, we investigated whether the -670 FAS promoter A/G polymorphism (STAT1-binding site) might contribute to susceptibility and clinical outcome in ATL. Thirty-one patients with ATL, 33 healthy, human T lymphotropic virus type 1-infected individuals, and 70 healthy, uninfected controls were genotyped for the FAS -670 polymorphism by PCR-restriction fragment-length polymorphism. The AA genotype was significantly over-represented in ATL patients in comparison with healthy controls (P=0.006), as well as asymptomatics (P=0.037), corresponding to an odds ratio (OR) of 3.79 [95% confidence intervals (CI; 1.28-11.41)] and 4.58 [95% CI (1.13-20.03)], respectively. The AA group also comprised significantly more aggressive (acute and lymphoma) clinical subtypes [P=0.012; OR=8.40; 95% CI (1.60-44.12)]. In addition, we observed a statistically significant association between GG genotype and survival (log rank test, P=0.032). Finally, IFN-gamma-induced but not basal FAS mRNA levels were increased significantly (P=0.049) in PBMCs from AA versus GG individuals, demonstrating the IFN-dependent functionality of the -670 polymorphism. In conclusion, our results demonstrate that a functional Fas promoter polymorphism is significantly associated to susceptibility, clinical manifestation, and survival in ATL.
Subject(s)
Genetic Predisposition to Disease/genetics , Leukemia, T-Cell/genetics , Polymorphism, Single Nucleotide/genetics , Promoter Regions, Genetic/genetics , fas Receptor/genetics , Follow-Up Studies , Genotype , HTLV-I Infections/immunology , HTLV-I Infections/virology , Humans , Interferon-gamma/pharmacology , Leukemia, T-Cell/diagnosis , Leukemia, T-Cell/virology , Leukocytes, Mononuclear/drug effects , RNA, Messenger/genetics , Risk Factors , Survival Rate , fas Receptor/immunologyABSTRACT
Polymorphisms in the interleukin-6 promoter region have been associated with diseases. In this study we investigated the -634G/C and -174G/C IL-6 promoter polymorphisms in three Brazilian ethnic groups. We verified that the allele frequencies of the two polymorphisms and haplotype frequencies varied significantly between the populations.
Subject(s)
Ethnicity/genetics , Interleukin-6/genetics , Polymorphism, Genetic , Brazil , Chi-Square Distribution , Gene Frequency , Haplotypes , Humans , Promoter Regions, Genetic/geneticsABSTRACT
An evaluation of human T-cell lymphotropic virus type 1 (HTLV-1) infection among 6754 pregnant women in Salvador, Bahia, Brazil using enzyme-linked immunosorbent assay, Western blot analysis, and polymerase chain reaction assay found a rate of infection of 0.84% (57 of 6754 women). Epidemiologic and obstetric data on the HTLV-1-positive pregnant women were analyzed and compared with data on a control group of HTLV-1-negative pregnant women. The mean age of the HTLV-1-positive women was 26.2 years. All were seronegative for HIV and syphilis, and only 2 reported a past history of sexually transmitted infection and more than 10 sexual partners. Of the HTLV-1-positive women, 88.5% were breast-fed, 4% were bottle fed, and 7.5% did not know. Six women had received blood transfusions, and only 1 reported intravenous drug use. Fifty-two HTLV-1-positive women could be followed: 45 had full-term deliveries, 5 had premature deliveries, and 2 had abortions. Our results indicate that (1) the frequency of HTLV-1 infection among pregnant women is relatively high in Salvador, Bahia, Brazil; (2) maternal infection was probably acquired more frequently through breast-feeding, but the sexual route was certainly the second most important means of transmission; (3) HTLV-1-positive women had a history of eczema-like infections in childhood more frequently than the control group; (4) HTLV-1 infection did not interfere in the course of pregnancy; and (5) no associated congenital infections were observed in the HTLV-1-positive women.