Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 89
Filter
Add more filters

Affiliation country
Publication year range
1.
Mol Biol Rep ; 48(6): 4995-5001, 2021 Jun.
Article in English | MEDLINE | ID: mdl-34191235

ABSTRACT

Toll-like receptors (TLRs) are a family of transmembrane receptors whose signaling control cellular processes of cell proliferation, survival, apoptosis, angiogenesis, remodeling, and repair of tissues. Polymorphisms in TLR genes can change the balance between pro and anti-inflammatory cytokines, modulating the risk of infection, chronic inflammation, and cancer. Although many studies have demonstrated the direct involvement of TLR signaling in the benefit of tumor cells in certain cancers, little is known about the influence of these gene polymorphisms on myeloproliferative neoplasms (MPNs). In this context, the objective of the study was to investigate a possible association between the TLR polymorphisms and the development of MPNs. 167 patients diagnosed with MPN and 222 healthy controls from the same region were evaluated. Genomic DNA was extracted and the TLR2 (rs5743708), TLR4 (rs4986790, rs4986791), TLR9 (rs5743836, rs187084) and JAK2V617F polymorphisms were genotyped by PCR-RFLP. The statistical analysis was performed by OpenEpi and SNPstat software. The JAK2V617F mutation was found in 68.32% of patients. TLR9-1486C/T CT genotype was less frequent in patients with polycythemia vera (PV) (OR 0.39, 95% CI 0.20-0.78, P = 0.025). When haplotype frequencies were analyzed, -1237T/-1486C (TLR9) was also less frequent in men (OR 0.58, 95% CI 0.36-0.94) and JAK negative men patients (OR 0.43, 95% CI 0.21-0.88). We can infer that the TLR9-1486 CT genotype could be associated with protection for PV and the TLR9-1237T/-1486C haplotype, protection for men, as well as for JAK negative men patients with MPN. There were no associations between TLR2 and TLR4 gene polymorphisms and MPN.


Subject(s)
Bone Marrow Neoplasms/genetics , Janus Kinase 2/genetics , Toll-Like Receptor 9/genetics , Toll-Like Receptors/genetics , Adult , Aged , Bone Marrow Neoplasms/metabolism , Female , Haplotypes/genetics , Humans , Janus Kinase 2/metabolism , Male , Middle Aged , Myeloproliferative Disorders/genetics , Polycythemia Vera/genetics , Polymorphism, Single Nucleotide/genetics , Primary Myelofibrosis/genetics , Thrombocythemia, Essential/genetics , Toll-Like Receptor 2/genetics , Toll-Like Receptor 2/metabolism , Toll-Like Receptor 4/genetics , Toll-Like Receptor 4/metabolism , Toll-Like Receptor 9/metabolism , Toll-Like Receptors/metabolism
2.
Ann Hum Genet ; 83(2): 110-114, 2019 03.
Article in English | MEDLINE | ID: mdl-30303246

ABSTRACT

We evaluated the influence of the IL8 T-738A (nonidentified rs), IL8 T-353A (rs4073), IL17A G197A (rs2275913), and IL17F T7488C (rs763780) single-nucleotide polymorphisms on leprosy. The AA genotype of IL8 T-353A was observed as a risk factor for multibacillary leprosy, regardless of gender and age-of-onset of disease, considering the recessive model (OR, 3.8; 95% CI, 1.1-13.5; P, 0.023). Furthermore, the AA genotype of IL17A G197A was associated with leprosy type 1 reaction (OR, 2.4; 95% CI, 1.1-5.1; P, 0.026) when compared to the group without reaction, which was adjusted for gender and age-of-onset of disease by the model log additive. These results indicate association of IL8 and IL17A polymorphisms with the progression to multibacillary leprosy and with the type 1 reaction, respectively.


Subject(s)
Interleukin-17/genetics , Interleukin-8/genetics , Leprosy, Multibacillary/genetics , Adult , Aged , Brazil , Female , Gene Frequency , Genotype , Humans , Male , Middle Aged , Polymorphism, Single Nucleotide
3.
Mediators Inflamm ; 2019: 4029217, 2019.
Article in English | MEDLINE | ID: mdl-31281226

ABSTRACT

The pathogenesis of periodontitis involves a complex interaction between the microbial challenge and the host immune response. The individual immunoinflammatory response has a great contribution in the pathogenesis of the disease and becomes a trigger in the process of bone remodeling which is a characteristic of the disease. Thus, the aim of this study was to evaluate the influence of the TLR4 A896G (rs4986790), TLR4 C1196T (rs4986791), CD14 C-260T (rs2569190), RANKL (TNFSF11, rs2277438), and OPG (TNFSF11B C163T, rs3102735) polymorphisms in periodontitis. A case-control study was conducted on patients with periodontitis (N = 203) and controls (N = 213) over 30 years of age, without diabetes mellitus, acute infections, and osteoarthritis, and patients without aggressive periodontitis, i.e., stage IV and C degree of periodontitis, and any periodontal treatment performed in the last 6 months. Genotypes were determined by the PCR-RFLP and sequencing method. The frequency comparisons between case and controls were performed using the chi-square test and logistic regression (OpenEpi and SNPStats software). The risk (OR) was evaluated for values of P < 0.05. Differences in TLR4, CD14, RANKL, and OPG genotype and allele frequency distributions were not observed between patients and controls. However, some variants were a risk factor for the development of periodontitis when considering gender and smoking habits. The TLR4 896 A/G genotype was a risk factor for periodontitis in males (OR = 2.86), and the TLR4 1196C/C genotype was a risk factor for nonsmoking males (OR = 1.85) when compared to women. The RANKL A/A and the OPG T/C genotype was associated with the risk of the disease in nonsmoking men compared to nonsmoking women with the same genotype (OR = 1.96 and OR = 2.9, respectively). In conclusion, TLR4, CD14, RANKL, and OPG variants were not associated with periodontitis. However, TLR4, RANKL, and OPG polymorphisms could be a risk for periodontitis in males regardless of smoking habits.


Subject(s)
Lipopolysaccharide Receptors/metabolism , Osteoprotegerin/metabolism , Periodontitis/genetics , Periodontitis/metabolism , Polymorphism, Genetic/genetics , RANK Ligand/metabolism , Toll-Like Receptor 4/metabolism , Adult , Case-Control Studies , Female , Gene Frequency/genetics , Genetic Predisposition to Disease/genetics , Genotype , Humans , Lipopolysaccharide Receptors/genetics , Male , Middle Aged , Osteoprotegerin/genetics , RANK Ligand/genetics , Toll-Like Receptor 4/genetics
4.
Mediators Inflamm ; 2019: 9585964, 2019.
Article in English | MEDLINE | ID: mdl-31065235

ABSTRACT

Genetic variations contribute to the susceptibility in the development of periodontitis. The aim of this study was to investigate the influence of IL18, IL12, and MMP9 polymorphisms in the chronic periodontitis. This case-control study involved 381 individuals matched by gender and age. Genotyping of IL18 (rs187238 and rs1946518) and IL12B (rs3212227) was performed by PCR-SSP and PCR-RFLP was used for MMP9 (rs3918242). IL-18 and MMP-9 were quantified in the serum by ELISA. SNPStats and OpenEpi software were used for statistical analysis and, in order to eliminate smoking as a confounding factor, the analyses were also performed in nonsmoking subjects. The IL18-137G/C genotype was associated with the risk of chronic periodontitis in nonsmokers (P c = 0.03; OR = 1.99; overdominant inherence model). In the multivariate analyses, homozygous IL18-137G/G and IL18-607C/C were more frequent in males compared to women with these same genotypes (OR = 2.51 and OR = 3.30, respectively). The serum levels of the IL-18 in patients were higher than those in healthy controls (P = 0.005). IL12B and MMP9 polymorphisms and MMP-9 serum concentration were similar in patients and controls. In this study, IL18 was associated with chronic periodontitis susceptibility. Men had greater risk than women for developing the disease when IL18 polymorphism was considered and the susceptibility was independent of the smoking status.


Subject(s)
Interleukin-12 Subunit p40/genetics , Interleukin-18/genetics , Matrix Metalloproteinase 9/genetics , Periodontitis/genetics , Smoking/genetics , Adult , Asian People , Case-Control Studies , Female , Genetic Predisposition to Disease/genetics , Genotype , Humans , Male , Middle Aged , Polymorphism, Restriction Fragment Length/genetics , Polymorphism, Single Nucleotide/genetics , Promoter Regions, Genetic/genetics
5.
Platelets ; 28(6): 607-610, 2017 Sep.
Article in English | MEDLINE | ID: mdl-28067110

ABSTRACT

The frequency distributions of HPA-1 to HPA-6 and HPA-15 were evaluated in two Brazilian populations from Parana: a mixed population of predominantly Caucasians and a population of Japanese descendants. Genotyping was performed by PCR-SSP in 364 unrelated individuals. Differences in the distribution of HPA highlight diversity in Brazilian miscegenation and the importance of formation of the HPA panel composed of regional blood donors.


Subject(s)
Antigens, Human Platelet/genetics , Asian People/genetics , Black People/genetics , Polymorphism, Genetic/genetics , White People/genetics , Alleles , Brazil , Female , Gene Frequency , Humans , Male
6.
Blood Cells Mol Dis ; 57: 54-7, 2016 Mar.
Article in English | MEDLINE | ID: mdl-26852656

ABSTRACT

The classical chromosome Philadelphia-negative myeloproliferative neoplasms (MPNs) are a group of disorders that share clinical, hematological, and histological features. Proinflammatory cytokines such as tumor necrosis factor-α (TNF-α) are elevated in patients with MPN. The aim of this study was to verify the association between the polymorphisms of TNF gene (-308G/A and -238 G/A) in BCR-ABL-negative MPN in our population. Blood samples obtained from MPN patients were genotyped for the JAK2V617F mutation and both TNF polymorphisms using PCR-RFLP. Thirty three (26.8%) patients with polycythemia vera (PV), 35 (28.7%) essential thrombocythemia (ET), 22 (17.7%) primary myelofibrosis (PMF), and 33 (26.8%) with unclassifiable MPN (MPNu) were included in the study. The JAK2 V617F mutation was detected in 94 (76.42%) patients. Were observed a significant increase on the frequency of the TNF-238 GA genotype in MPN patients compared to controls (OR=2.21, 95% CI=1.02-4.80, P<0.04). The distribution of the genotypes and allelic frequencies of TNF-308 was significantly different among the MPNs, JAK2V617F positive, PV and PMF, and controls. Our data has demonstrated that the polymorphisms on TNF-238 GA, TNF-308 GA were associated to MPN development in this population, triggered by JAK2 V617F mutation.


Subject(s)
Janus Kinase 2/genetics , Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative/genetics , Polycythemia Vera/genetics , Polymorphism, Genetic , Primary Myelofibrosis/genetics , Thrombocythemia, Essential/genetics , Tumor Necrosis Factor-alpha/genetics , Adult , Aged , Alleles , Brazil , Case-Control Studies , DNA Mutational Analysis , Female , Gene Expression , Genetic Predisposition to Disease , Humans , Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative/diagnosis , Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative/pathology , Male , Middle Aged , Polycythemia Vera/diagnosis , Polycythemia Vera/pathology , Primary Myelofibrosis/diagnosis , Primary Myelofibrosis/pathology , Promoter Regions, Genetic , Thrombocythemia, Essential/diagnosis , Thrombocythemia, Essential/pathology
7.
Transfus Apher Sci ; 55(3): 302-307, 2016 Dec.
Article in English | MEDLINE | ID: mdl-27566949

ABSTRACT

The aim of this study was to assess the distribution of alleles and genotypes of the blood group systems Rh, Kell, Duffy, Kidd, and Diego in 251 regular blood donors registered in the hemotherapy unit of the Southwestern region of Paraná, Southern Brazil. The frequencies were obtained by direct counting on a spreadsheet program and statistical analyses were conducted in order to compare them with other Brazilian populations using chi-squared with Yates correction on OpenEpi software. The frequencies of RHD* negative, RHCE*c/c and RHCE*e/e were higher than expected for the Caucasian population. A difference was also observed for FY alleles, FY*01/FY*01 genotype and FY*02N.01 -67T/C (GATA Box mutation). Two homozygous individuals were defined as a low frequency phenotype K + k- (KEL*01.01/KEL*01.01) and, for Diego blood group system the rare DI*01 allele was found in ten blood donors, of which one was DI*01/DI* 01 (0.4%). The allele and genotype frequencies of Kidd blood group system were similar to expected to Caucasians. The results showed the direction in which to choose donors, the importance of extended genotyping in adequate blood screening and the existence of rare genotypes in Brazilian regular blood donors.


Subject(s)
Blood Donors , Blood Group Antigens/genetics , Adolescent , Adult , Brazil , Duffy Blood-Group System/genetics , Female , Gene Frequency/genetics , Genotype , Humans , Kell Blood-Group System/genetics , Kidd Blood-Group System/genetics , Male , Middle Aged , Phenotype , Rh-Hr Blood-Group System/genetics , Young Adult
8.
Transfus Apher Sci ; 55(1): 120-4, 2016 Aug.
Article in English | MEDLINE | ID: mdl-27184292

ABSTRACT

The Rh blood group system is one of the most complex, polymorphic and immunogenic blood group systems in humans. Some individuals produce a weak or a partial D as a result of RHD and RHCE gene conversion events and RHD point mutations. Because the incidence of RHD variants differs considerably among ethnic groups, the objective of this study was to establish the frequency of blood donors carrying some weak and partial RHD, at the molecular level, in 400 blood donors from the North/Northwest of the state of Parana, Southern Brazil. Another 30 blood donors whose RhD typing results in serology were inconclusive were also included. In this mixed Brazilian population, the most frequent weak D types were 1, 4, 3 and 2 (frequencies of 4.35%, 2.32%, 1.46% and 0.29%, respectively; total of 8.41%) and partial D was found in 2.90% of samples carrying the RHD gene. For samples with inconclusive RhD typing, 53.33% of them presented weak and partial RHD, and 43.75% had concomitantly more than one RHD variant. Our results demonstrate the presence of Caucasian and African D variants. This knowledge can contribute to the safety of transfusion strategies in this ethnic admixture population.


Subject(s)
Blood Donors , Gene Frequency , Point Mutation , Rh-Hr Blood-Group System/genetics , Brazil , Female , Humans , Male
9.
Blood Cells Mol Dis ; 55(1): 76-81, 2015 Jun.
Article in English | MEDLINE | ID: mdl-25976472

ABSTRACT

The myelodysplastic syndromes (MDS) are a clinically and cytogenetically heterogeneous group of clonal diseases. Clonal chromosomal abnormalities are observed in 30-50% of patients with MDS. The deletions are among the most common alterations, and often involve the long arms of chromosomes 5, 7, 8, 13, and 20 and the short arms of chromosomes 12 and 17. The advent of new technologies for the detection of genetic abnormalities led to the description of a new set of recurrent mutations, leading to new insights into the pathophysiology of MDS. The recent recognition that genes involved in the regulation of histone function (EZH2, ASXL1, and UTX) and DNA methylation (DNMT3A, IDH1/IDH2, and TET2) are frequently mutated in MDS, has led to the proposal that there is an important link between genetic and epigenetic alterations in this disease. In fact, regulatory factors have also been considered as miR-143/miR-145, miR-146a, miR-125a and MiR-21. Somatic mutations may influence the clinical phenotype but are not included in current prognostic scoring systems. In recent years research has brought new insights into these diseases, but few of the findings are sufficiently robust to be incorporated into the clinical routine at this time. Thus, the aim of this study was to review the role of genetic factors involved in the diagnosis and development of the different phenotypes of MDS.


Subject(s)
Chromosome Aberrations/classification , Epigenesis, Genetic , Gene Expression Regulation, Neoplastic , Myelodysplastic Syndromes/diagnosis , Myelodysplastic Syndromes/genetics , Neoplasm Proteins/genetics , DNA Methylation , Histone Demethylases/genetics , Histone Demethylases/metabolism , Humans , MicroRNAs/genetics , MicroRNAs/metabolism , Mutation , Myelodysplastic Syndromes/metabolism , Myelodysplastic Syndromes/pathology , Neoplasm Proteins/metabolism , Phenotype , Signal Transduction , Transcription Factors/genetics , Transcription Factors/metabolism
10.
Mediators Inflamm ; 2015: 147056, 2015.
Article in English | MEDLINE | ID: mdl-26339129

ABSTRACT

A case-control study was conducted on patients with chronic periodontitis (CP) and healthy controls with the aim of evaluating possible association between interleukin 17A (IL17A) G197A (rs2275913) and IL17F T7488C (rs763780) polymorphisms and periodontitis. Genotypes were determined by PCR-RFLP method. Statistical analyses were conducted using the OpenEpi and SNPStas software to calculate Chi-square with Yates correction or Fisher's exact tests, odds ratios (OR), and 95% confidence intervals (CIs). SNPStas software was used to calculate Hardy-Weinberg equilibrium. IL17A AA genotype was more frequent in patients with chronic periodontitis (CP) in the codominant and recessive models (P = 0.09; OR = 2.53 and P = 0.03; OR = 2.46, resp.), the females with CP (P = 0.01, OR = 4.34), Caucasoid patients with CP (P = 0.01, OR = 3.45), and nonsmoking Caucasian patients with CP (P = 0.04, OR = 3.51). The IL17A A allele was also more frequent in Caucasians with CP (P = 0.04, OR = 1.59). IL17F T7488C polymorphism was not associated with chronic periodontitis. In these patients from Southern Brazil, the IL17A rs2275913 polymorphisms, IL17A AA genotype, and the A allele were associated with a susceptibility to chronic periodontitis.


Subject(s)
Chronic Periodontitis/genetics , Interleukin-17/genetics , Adult , Brazil/epidemiology , Chronic Periodontitis/epidemiology , Female , Gene Frequency/genetics , Genetic Predisposition to Disease/genetics , Genotype , Humans , Male , Middle Aged , Polymorphism, Single Nucleotide/genetics
11.
Mediators Inflamm ; 2015: 481656, 2015.
Article in English | MEDLINE | ID: mdl-26339134

ABSTRACT

Human leukocyte antigens (HLA) have a pivotal role in immune response and may be involved in antigen recognition of periodontal pathogens. However, the associations of HLA with chronic periodontitis (CP) have not been previously studied in the Brazilian population. In an attempt to clarify the issue of genetic predisposition to CP, we examined the distribution of HLA alleles, genotypes, and haplotypes in patients from Southern Brazil. One hundred and eight CP patients and 151 healthy and unrelated controls with age-, gender-, and ethnicity-matched were HLA investigated by polymerase chain reaction with sequence specific oligonucleotides. To exclude smoking as a predisposing factor, statistical analyses were performed in the total sample and in nonsmoking individuals. The significant results showed a positive association of the A∗ 02/HLA-B∗ 40 haplotype with CP (total samples: 4.2% versus 0%, Pc = 0.03; nonsmokers: 4.3% versus 0%, Pc = 0.23) and a lower frequency of HLA-B∗ 15/HLA-DRB1∗ 11 haplotype in CP compared to controls (total samples: 0.0% versus 4.3%, Pc = 0.04; nonsmokers: 0 versus 5.1%, P = 1.0). In conclusion, the HLA-A∗ 02/B∗ 40 haplotype may contribute to the development of CP, while HLA-B∗ 15/DRB1∗ 11 haplotype might indicate resistance to disease among Brazilians.


Subject(s)
Chronic Periodontitis/genetics , HLA Antigens/genetics , Haplotypes/genetics , Adult , Aged , Aged, 80 and over , Alleles , Brazil , Female , Gene Frequency/genetics , Genotype , HLA-B Antigens/genetics , HLA-DQ Antigens , HLA-DQ beta-Chains/genetics , HLA-DRB1 Chains/genetics , Humans , Male , Middle Aged
12.
Transfus Apher Sci ; 50(1): 123-8, 2014 Feb.
Article in English | MEDLINE | ID: mdl-24231689

ABSTRACT

Polymorphisms of Rh, Kell, Duffy, Kidd and Diego blood group systems were studied in 209 unrelated Brazilian Japanese descendants from South of Brazil. The methods used were multiplex-PCR, AS-PCR and RFLP-PCR. The differences in frequencies among the populations were evaluated using chi-square test. The frequencies for Rh, Kell, Kidd and Diego system were similar to those of the Japanese. RHCE(*)CC, RHCE(*)EE genotypes and FY(*)01 allele were lower and FY(*)01N.01 was higher than Japanese. These differences in the frequencies between Brazilian Japanese descendants and Japanese could indicate a gene flow in Brazilian population and reinforce the importance of this knowledge to achieve safe red blood cells.


Subject(s)
Duffy Blood-Group System/genetics , Kell Blood-Group System/genetics , Kidd Blood-Group System/genetics , Polymorphism, Single Nucleotide , Rh-Hr Blood-Group System/genetics , Adolescent , Adult , Brazil , Erythrocytes/cytology , Female , Gene Frequency , Genotype , Humans , Japan , Male , Middle Aged , Sequence Analysis, DNA , Young Adult
13.
J Clin Lab Anal ; 28(6): 440-5, 2014 Nov.
Article in English | MEDLINE | ID: mdl-24659081

ABSTRACT

BACKGROUND: The aim of this study was to investigate the distribution of full-length and deleted variants of KIR2DS4 in a population of southern Brazil and compare the results with other populations, as well as comparing two techniques, PCR-SSP and PCR-SSO, for typing of variants. METHODS: 258 individuals from southern Brazil were analysed by PCR-SSO ("polymerase chain reaction-sequence specific oligonucleotides", One Lambda, Inc., Canoga Park, CA), of which 161 were also analysed by PCR-SSP. RESULTS: The study population showed similarities with other Caucasian populations; 46.5% of individuals had only KIR2DS4 variants, 21.3% had the full-length form and 25.1% had both forms. CONCLUSION: The frequencies found in both groups (genotyped by PCR-SSP and PCR-SSO) were 100% concordant.


Subject(s)
Receptors, KIR/genetics , Sequence Deletion , Brazil , Genotype , Humans , Mutation Rate , Polymerase Chain Reaction/methods , Receptors, KIR/chemistry
15.
Front Genet ; 13: 952219, 2022.
Article in English | MEDLINE | ID: mdl-36313452

ABSTRACT

Leprosy is a chronic disease and also a global health issue, with a high number of new cases per year. Toll-like receptors can respond to mycobacterial molecules in the early stage of infection. As important components of the innate immune response, alterations in genes coding for these receptors may contribute to susceptibility/protection against diseases. In this context, we used a case-control study model (183 leprosy cases vs. 185 controls) to investigate whether leprosy patients and the control group, in southern Brazil, have different frequencies in TLR1 (TLR1 G>T; rs5743618), TLR2 (TLR2 T>C, rs1816702 and rs4696483), and TLR4 (TLR4 A>G, rs1927911) polymorphisms. Analysis of the TLR1 1805G>T polymorphism presented the G/G genotype more frequently in the control group. TLR2 T>C rs1816702 and TLR2 T>C rs4696483, the T/T and C/T genotype, respectively, were more frequent in the control group than in leprosy patients, suggesting protection from leprosy when the T allele is present (rs4696483). Haplotype analyses between TLR1 (rs5743618) and TLR2 (rs1816702 and rs4696483) polymorphisms suggest risk for the presence of the TCC haplotype and protection in the presence of the TCT haplotype. This study suggests that polymorphisms in TLR1 and TLR2 are factors that may contribute to development/resistance of leprosy.

16.
J Pers Med ; 11(6)2021 Jun 07.
Article in English | MEDLINE | ID: mdl-34200121

ABSTRACT

HLA-B*27 is an important marker for spondyloarthritis (SpA), however, many SpA patients are HLA-B*27 negative. Thus, the aim of this study was to investigate the influence of IL17, TNF and VDR gene polymorphisms in SpA patients who were HLA-B*27 negative. This case-control study was conducted in 158 patients [102 patients with ankylosing spondylitis (AS) and 56 with psoriatic arthritis (PsA)] and 184 controls. HLA-B*27 genotyping was performed using PCR-SSP and IL17A (rs2275913), IL17F (rs763780), TNF-308 (rs1800629), TNF-238 (rs361525), FokI C>T (rs2228570), TaqI C>T (rs731236), ApaI A>C (rs7975232), and BsmI C>T (rs1544410) using PCR-RFLP. Statistical analyses were performed by Chi-square and logistic regression using OpenEpi and SNPStats software. The IL17F C allele frequency was higher in patients with SpA, AS and PsA compared to controls. The IL17F T/C genotype frequency was higher in SpA patients in an overdominant inheritance model and when men and women were separately analyzed. IL17A_IL17F AC haplotype was significantly associated to the risk for SpA patients. As for VDR, the ApaI a/a was a potential risk factor for SpA in men. In conclusion, IL17F C variant contributed to the risk of SpA in Brazilian patients who were HLA-B*27 negative and could be a potential marker for SpA.

17.
Front Immunol ; 12: 653611, 2021.
Article in English | MEDLINE | ID: mdl-34290697

ABSTRACT

Ankylosing spondylitis (AS) is a chronic autoimmune inflammatory disease that mainly affects the axial and sacroiliac joints. Single-nucleotide polymorphisms (SNPs) in genes encoding cytokines have been associated with AS, which can interfere with the production of these cytokines and contribute to the development of AS. In order to contribute to a better understanding of the pathology of AS, our objective was to investigate a possible association of the IL10 -1082 A>G SNP (rs1800896) with AS and to evaluate the serum levels of TNF-α, IL-10, IL-17A, and IL-17F in AS patients and controls comparing them with their respective genotypes (TNF rs1800629, IL10 rs1800896, IL17A rs2275913, and IL17F rs763780). Patients and controls were selected from the Maringá University Hospital and the Maringá Rheumatism Clinic, in Paraná State, Southern Brazil, and they were diagnosed by the ASAS Criteria. In total, 149 patients and 169 controls were genotyped for the IL10 -1082 A>G polymorphism using a polymerase chain reaction with sequence specific primers (PCR-SSP); the measurement of TNF-α serum levels was performed through the immunofluorimetric test and IL-10, IL-17A, and IL-17F using an ELISA test. There was a high frequency of the IL10 -1082 G allele in AS patients compared with controls with an odds ratio of 1.83 and 95% confidence interval of 1.32 to 2.54, and a significant difference in the genotype frequencies of the IL10 -1082 A/G+G/G between patients and healthy controls, with an odds ratio of 3.01 and 95% confidence interval of 1.75 to 5.17. In addition, increased serum levels of IL-10 were observed in AS patients: 2.38 (IQR, 0.91) pg/ml compared with controls 1.72 (IQR 0.93) pg/ml (P = 0.01). Our results also showed an association between IL17F rs763780 C/T+T/T genotypes and increased serum levels of IL-17F in patients with AS and also in controls. We can conclude that patients with the A/G and G/G genotypes for -1082 A>G (rs1800896) in the IL10 gene are three times more likely to develop AS, that the serum level of IL-10 was higher in AS patients and that the IL17F rs763780 polymorphism can affect the levels of IL-17F in the serum of patients and controls in the same way.


Subject(s)
Genetic Predisposition to Disease , Interleukin-10/genetics , Spondylitis, Ankylosing/genetics , Adult , Alleles , Brazil , Case-Control Studies , Female , Gene Frequency , Humans , Interleukin-10/blood , Interleukin-10/immunology , Interleukin-17/blood , Interleukin-17/immunology , Male , Middle Aged , Polymorphism, Single Nucleotide , Spondylitis, Ankylosing/blood , Spondylitis, Ankylosing/immunology , Tumor Necrosis Factor-alpha/blood , Tumor Necrosis Factor-alpha/immunology
18.
J Clin Lab Anal ; 24(5): 311-6, 2010.
Article in English | MEDLINE | ID: mdl-20872565

ABSTRACT

We evaluated the usefulness of blood group genotyping as a supplement to hemagglutination to determine the red blood cell (RBC) antigen profile of polytransfused patients with hematological diseases and renal failure. Seventy-nine patients were selected. They all received more than three units of blood and eight (10%) had already clinical significant alloantibodies occurring alone or in combination against Rh, K, Fya, and Di antigens. DNA was prepared from blood samples and RHCE*E/e, KEL*01/KEL*02, FY*01/FY*02 and JK*01/JK*02 alleles were determined by using PCR-RFLP. RHD*/RHD*Ψ and RHCE*C/c were tested using multiplex PCR. Discrepancies for Rh, Kell, Duffy, and Kidd systems were found between the phenotype and genotype-derived phenotype in 16 of the 38 chronically transfused patients. The genotypes of these patients were confirmed by DNA array analysis (HEA Beadchip(™); Bioarray Solutions, Warren, NJ). Genotyping was very important for the determination of the true blood groups of the polytransfused patients, helped in the identification of suspected alloantibodies and in the selection of antigen-negative RBCs for transfusion.


Subject(s)
Blood Group Antigens/genetics , Blood Transfusion , DNA/genetics , Duffy Blood-Group System/genetics , Kell Blood-Group System/genetics , Rh-Hr Blood-Group System/genetics , Blood Group Antigens/analysis , Brazil , Case-Control Studies , Duffy Blood-Group System/blood , Erythrocytes , Genotype , Hematologic Diseases/blood , Hematologic Diseases/genetics , Hematologic Diseases/therapy , Humans , Kell Blood-Group System/blood , Phenotype , Polymerase Chain Reaction , Polymorphism, Restriction Fragment Length , Prognosis , Renal Insufficiency/blood , Renal Insufficiency/genetics , Renal Insufficiency/therapy , Rh-Hr Blood-Group System/blood
19.
Dent Traumatol ; 26(4): 323-31, 2010 Aug.
Article in English | MEDLINE | ID: mdl-20662885

ABSTRACT

The purpose of the present study was to evaluate the efficacy of propolis extract in maintaining the viability of human periodontal ligament (PDL) cells, and to radiographically analyze tooth replantation and the adjacent periodontium in dogs after storage in this extract. Human PDL cells were incubated with the experimental media propolis, milk, saliva, Hank's balanced salt solution (HBSS), and Dulbecco's modified Eagles medium (DMEM, positive controls), and distilled water (negative control). Cell viability was determined 0, 1, 3, 6, 12, and 24 h later by colorimetric MTT assay. Thirty incisors from dogs were divided into two storage time blocks (1 and 3 h) and were maintained in the experimental media. HBSS served as a positive control, and dry teeth (on gauze) as a negative control. The replanted teeth were radiographed once per month for 6 months. The radiographic images were standardized by the shortening/lengthening factor, and were both qualitatively and quantitatively analyzed. The in vitro results showed that the efficacy of propolis in maintaining functional viability of PDL cells was similar to that of milk. Propolis and milk were significantly better than controls from the 6-h time period. The in vivo results showed that teeth maintained in propolis medium exhibited replacement resorption with significant reduction in tooth length, similar to teeth maintained in saliva and dried teeth. This resorption was less intense with the 3-h storage time than the 1-h storage time. Conditions close to normal were found in teeth maintained in milk, similar to the HBSS control. Therefore, although propolis was effective in maintaining the viability of human PDL cells, resorption of the tooth replantation in dogs occurred under these experimental conditions.


Subject(s)
Organ Preservation Solutions/pharmacology , Periodontal Ligament/drug effects , Plant Extracts/pharmacology , Propolis/pharmacology , Tooth Avulsion/surgery , Animals , Cell Survival/drug effects , Cells, Cultured , Colorimetry , Coloring Agents , Dogs , Humans , Incisor/diagnostic imaging , Incisor/injuries , Isotonic Solutions/pharmacology , Isotonic Solutions/therapeutic use , Male , Milk/physiology , Organ Preservation Solutions/therapeutic use , Periodontal Ligament/cytology , Periodontal Ligament/diagnostic imaging , Plant Extracts/therapeutic use , Propolis/therapeutic use , Radiography , Root Resorption/diagnostic imaging , Root Resorption/etiology , Saliva/physiology , Tetrazolium Salts , Thiazoles , Time Factors , Tooth Apex/diagnostic imaging , Tooth Avulsion/diagnostic imaging , Tooth Avulsion/pathology , Tooth Replantation/methods , Water/chemistry
20.
PLoS One ; 15(1): e0227905, 2020.
Article in English | MEDLINE | ID: mdl-31978095

ABSTRACT

The pathogenesis of periodontitis (PD) involves several molecules of the immune system that interact in a network to eliminate the periodontopathogens, yet, they contribute to periodontal tissue destruction. The different mechanisms that lead to periodontal tissue damage are not clear. Despite this, immune response genes have been related to the development of PD previously, such as those involved in inflammasomes which are multiprotein complexes and cytokines including Interleukin-1. The aim of the study was to evaluate the polymorphisms in NLRP3 inflammasome, cytokine and receptor of cytokines genes in the development of periodontitis. This case-control study was conducted in 186 patients with PD (stage II and III and grade B) and 208 controls (localized gingivitis and periodontally healthy individuals). Genotyping was performed using PCR-RFLP for the SNP rs4612666 in NLRP3 and using PCR-SSP for IL1A, IL1B, IL1R, IL1RN, IL4RA, INFG, TGFB1, TNF, IL2, IL4, IL6, and IL10. Cytokine serum levels were measured using Luminex technology. SNPStats and OpenEpi software were used to perform statistical analysis. The higher frequencies of NLRP3 T/C and IL1B -511 T/T genotypes and IL2 (+166, -330) GT haplotype were observed in patients with PD compared to controls. The SNPs in NLRP3, IL1R +1970, IL6-174, TNF -308, IL2 +166 and -330, TGFB1 +869 and +915, IL4RA +1902, IL4-1098 and -590 were associated to PD in men. In conclusion, polymorphisms in NLRP3, IL1B and IL2 genes were associated to PD susceptibility. Men carrying the NLRP3, IL1R, IL6, TNF, IL2, TGFB1, IL4RA and IL4 polymorphisms had greater susceptibility than women for developing PD.


Subject(s)
Interleukin-1beta/genetics , Interleukin-2/genetics , NLR Family, Pyrin Domain-Containing 3 Protein/genetics , Periodontitis/genetics , Adult , Cytokines/genetics , Female , Genetic Association Studies , Genetic Predisposition to Disease , Genotype , Haplotypes/genetics , Humans , Inflammasomes/genetics , Male , Middle Aged , Periodontitis/pathology , Polymorphism, Restriction Fragment Length/genetics , Polymorphism, Single Nucleotide/genetics , Sex Characteristics , Transforming Growth Factor beta1/genetics
SELECTION OF CITATIONS
SEARCH DETAIL