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Resumo Introdução: O Toxoplasma gondii, parasito intracelular obrigatório, é o agente etiológico da toxoplasmose, a qual acomete cerca de um terço da população mundial. Objetivo: Analisar a frequência da infecção por Toxoplasma gondii em gestantes em Foz do Iguaçu e verificar possíveis fatores de associação a infecção. Método: Foi realizado um estudo transversal retrospectivo (dados de 2017) que avaliou exames sorológicos, pesquisa de anticorpos IgG e IgM para T. gondii durante a gestação e possíveis fatores de associação a infecção, a partir das fichas de pré-natal das gestantes em unidades de saúde, Foz do Iguaçu/PR. O teste do χ2 para tendência foi utilizado para análise dos dados e, o odds ratio (OR) para estimar a chance de associação entre as variáveis. Resultados: Das 1.000 fichas de pré-natal analisadas, 78,1% apresentaram registro de sorologia para T. gondii, das quais, 34,0% eram imunes ao T. gondii, 3,9% apresentaram anticorpos IgG e IgM e 66,0% eram suscetíveis. A maioria das gestantes iniciaram o pré-natal no primeiro trimestre 467 (60,0%). Houve predominância de gestantes com mais de uma gestação 200 (44,0% — p=0,00001), brasileiras 259 (35,1% — p=0,0112), idade >41 anos 7 (63,6%), ensino médio completo 125 (37,8% — p<0,05) e de cor da pele branca 140 (38,5% — p=0,0164). Conclusões: Os fatores associados a frequência da infecção nas gestantes devem ser considerados durante o pré-natal para a prevenção da infecção.
Abstract Background: The Toxoplasma gondii, an obligatory intracellular parasite, is the etiological agent of toxoplasmosis, which affects approximately one third of the world's population. Objective: To analyze the frequency of Toxoplasma gondii infection in pregnant women in Foz do Iguaçu and possible factors associated with the infection. Method: A retrospective cross-sectional study (2017 data) was carried out, which evaluated serological tests, IgG and IgM antibodies for T. gondii during pregnancy and possible factors associated the infection, based on the prenatal records of pregnant women in health units, Foz do Iguaçu/PR. The χ2 test for trend was used for data analysis, and the odds ratio (OR) to estimate the chance of association between variables. Results: Of the 1,000 prenatal records analyzed, 781 (78.1%) had serology records for T. gondii, of which 265 (34.0%) were immune to T. gondii, 31 (3.9%) had IgG and IgM antibodies, and 516 (66.0%) were susceptible. Most pregnant women started prenatal care in the first trimester 467 (60.0%). There was a predominance of pregnant women with more than one pregnancy 200 (44.0% — p=0.00001), Brazilian 259 (35.1% — p=0.0112), aged >41 years old 7 (63.6%), complete high school 125 (37.8% — p<0.05), and of white skin color 140 (38.5% — p=0.0164). Conclusions: An average frequency of infection was identified among pregnant women. The associated factors evidenced should be considered during prenatal care, along with educational actions to prevent infection.
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Objective:To systematically evaluate the relationship between rs1012068 and rs5998152 single nucleotide polymorphisms of DEPDC5 gene and susceptibility to hepatocellular carcinoma (HCC).Methods:Up to October 31, 2022, PubMed, Embase, Scopus, Web of Science and China National Knowledge Internet (CNKI) were used to search the relationship between rs1012068, rs5998152 and susceptibility to HCC. The odds ratio (OR) values and 95% CI of the five genetic models were calculated, and the RevMan5.3 software was used for meta analysis. Results:A total of 12 articles were included in this study, including 11 articles about rs1012068 locus, including 2 609 patients with HCC and 8 171 controls, and 3 articles about rs5998152 locus, including 411 patients with HCC and 1 448 controls. The results of meta analysis showed that among the five genetic models of rs1012068 locus, allele pattern (G vs T: P=0.02), dominant pattern (GG+ TG vs TT: P=0.01) and heterozygote pattern (TG vs TT: P=0.009) were significantly different between the case group and the control group. In homozygous mode (GG vs TT: P=0.05) and recessive mode (GG vs TG+ TT: P=0.08), there was no correlation between rs1012068 gene polymorphism and susceptibility to HCC. Among the five genetic models of rs5998152 locus, allele model (C vs T: P=0.03), dominant model (CC+ TC vs TT: P=0.001) and heterozygous model (TC vs TT: P<0.000 01) were significantly different between case group and control group. There was no correlation between rs5998152 gene polymorphism and susceptibility to HCC in recessive model (CC vs TC+ TT: P=0.31) and homozygous model (CC vs TT: P=0.09). Conclusions:There is a correlation between rs1012068 locus and susceptibility to HCC in allele model and dominant gene model, which is a genetic factor promoting tumorigenesis. The allele pattern, dominance pattern and heterozygote pattern of rs5998152 locus can increase the risk of liver cancer, but no correlation was found in other patterns.
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Resumen Objetivo: Describir la asociación de las variantes en los genes que codifican por citocinas participantes en el proceso inflamatorio con la susceptibilidad y la gravedad clínica de las enfermedades. Métodos: Se realizó un estudio documental con revisión de literatura científica encontrada en las siguientes bases de datos: Pubmed, Science Direct, Scopus, Scielo, PLOS, Hinari, Redalyc, Dialnet, Taylor, ProQuest. Se revisaron 84 referencias relacionadas con artículos de investigación, revisiones sistemáticas y metaanálisis con los términos ''variante'', ''variante en un solo nucléotido'', ''polimorfismo de nucleótido único'', ''citocinas proinflamatorias'', ''citocinas antiinflamatorias'', ''interleucinas'', ''factor de necrosis tumoral'', ''susceptibilidad genética'', ''enfermedades'' y ''patologías''. Resultados: La evidencia señala que las variantes en un solo nucleótido se detectan principalmente en regiones promotoras de genes que codifican para citocinas reguladoras de procesos inflamatorios, como son: IL-1, IL-6, IL-8, IL-10, IL-12, IL-17, IL-18, IL-22 y el factor de necrosis tumoral. Conclusiones: La expresión y la producción diferencial de estas citocinas desempeñan un papel relevante en la patogenia y la predisposición a sufrir enfermedades, especialmente metabólicas, malignas, autoinmunes e infecciosas. Se mostró también un efecto diferencial de las variantes según las características étnicas, lo que resulta ser una herramienta eficaz en la medicina preventiva.
Abstract Aim: To describe the association of variations in cytokine genes that participate in the inflammatory process with the susceptibility and clinical severity of diseases. Methods: A documentary study was carried out with a review of the scientific literature of the database: Pubmed, Science Direct, Scopus, Scielo, PLOS, Hinari, Redalyc, Dialnet, Taylor, ProQuest. Eighty-four references were reviewed that included research articles, systematic reviews and meta-analyzes, using the terms ''Variants'', ''Single Nucleotide Variation'', ''Proinflammatory cytokines'', ''Anti-inflammatory cytokines'', ''Interleukins'', ''Tumor Necrosis Factor'', ''genetic susceptibility'', ''diseases'', pathologies''. Results: The evidence indicates that Single Nucleotide Variants are detected mainly in promoter regions of genes that code for cytokines that regulate inflammatory processes such as: IL-1, IL-6, IL-8, IL-10, IL-12, IL -17, IL-18, IL-22 and tumoral necrosis factor. Conclusions: The expression and differential production of these cytokines play a role in the pathogenesis and predisposition to diseases, especially metabolic, malignant, autoimmune, and infectious. A differential effect of variants according to ethnic characteristics is also observed, which turns out to be an effective tool to be used in preventive medicine.
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Cytokines/analysis , Interleukins , Lymphotoxin-alpha , Polymorphism, Single NucleotideABSTRACT
Objective:To analyze the relationship between ataxia telangiectasia mutated (ATM) single nucleotide polymorphism (SNP) at rs1801516 and rs1800054 and sporadic breast cancer (SBC) in Inner Mongolia.Methods:A total of 102 patients with SBC (72 Han and 30 Mongolian) who were admitted to the Affiliated Hospital of Inner Mongolia Medical University from January 2018 to September 2019 were prospectively collected as case group and 102 healthy women (72 Han and 30 Mongolian) during the same period as control group. 2 ml of venous blood was collected to extract DNA. According to the Single Nucleotide Polymorphism Database (dbSNP), the highly polymorphic sites rs1801516 and rs1800054 of ATM gene were selected. The polymerase chain reaction (PCR) and direct sequencing were used to detect the polymorphism of the two sites, and the correlation between the single nucleotide polymorphism of the two sites and the susceptibility of SBC in Inner Mongolia was analyzed. The potential association between clinicopathological factors and ATM gene polymorphism in patients with SBC in Inner Mongolia were explored.Results:GG, GA and AA genotypes were detected in rs1801516 locus of ATM gene. Only CC genotype was detected in the rs1800054 locus of ATM gene. There was no significant difference in the distribution of genotype frequency and allele frequency between Mongolian breast cancer group and Han breast cancer group, Mongolian control group and Han control group, Mongolian breast cancer group and Mongolian control group, Han breast cancer group and Han control group (all P>0.05). Logistic regression analysis showed that allele G was the susceptibility gene of SBC in Inner Mongolia ( OR: 1.775, 95% CI: 1.04-3.03, P=0.04). ATM rs1801516 polymorphism may be associated with increased risk of breast cancer in patients with mass diameter ≤2 cm and/or without lymph node metastasis (all P<0.05). Conclusions:The polymorphism of ATM gene rs1801516 and rs1800054 may not be significantly correlated with the risk of SBC in Inner Mongolia. The rs1801516 locus may be associated with increased risk of breast cancer in patients with mass diameter ≤2 cm and/or without lymph node metastasis. Gene G may be one of the susceptible genes of SBC in Inner Mongolia.
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Objective:To investigate the relationship between single nucleotide polymorphism (SNPs) of Zeste homolog enhancer 2 (EZH2) gene and the risk of breast cancer.Methods:Recruiting 1 039 breast cancer patients and 1 040 controls at 22 referral hospitals nationwide in China, the genotype distribution of 3 SNPs loci of EZH2 genes was observed to detect the correlation between different genotypes and the risk of breast cancer genotypes EZH2 expression in breast cancer tissues and its correlation with patient prognosis were analyzed using breast cancer data from the database.Results:EZH2 rs6464926 CC genotype was compared with TT genotype (TT vs. CC: OR=1.362, 95% CI: 1.063-1.746, P=0.015) and dominant model (TC+TT vs .CC: OR=1.22, 95% CI: 1.004-1.483, P=0.045) .In women with BMI ≥24 kg/m 2, the TC genotype ( P=0.050), TT genotype ( P=0.025) and dominant model (TC+TT, P=0.021) of rs6464926 locus were significantly different from CC genotype in cancer risk. rs6464926 was correlated with EZH2 gene expression ( P=6.89E-47). EZH2 gene is highly expressed in breast cancer tissues, and patients with high expression were associated with shorter OS ( HR=1.27, P=0.013), DMFS ( HR=1.37, P<0.01), and RFS ( HR=1.44, P<0.01). Conclusions:The polymorphism rs6464926 of EZH2 gene is associated with breast cancer susceptibility in Chinese women. rs6464926 might regulate breast cancer risk and prognosis by changing EZH2 expression.
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Objective:To observe the susceptibility factors of elderly patients with corynebacterium striata in sputum of lower respiratory tract and analyze its clinical therapeutic effect.Methods:The clinical data of 192 elderly inpatients infected with corynebacterium striatum detected in sputum of lower respiratory tract were retrospectively analyzed in Quanzhou First Hospital Affiliated to Fujian Medical University from January 2019 to June 2021.The detection rate of corynebacterium striata was calculated, and the susceptibility factors and clinical efficacy were compared between the infection group(n=102)and the colonization group(n=90).Results:The detection rate of corynebacterium striata(detected cases / numbers of qualified lower respiratory tract sputum specimen)was 0.8%(72/8976)from January to December 2019, 2.3%(134/5877)from January to December 2020, and 3.0%(121/4 039)from January to June 2021, the difference was statistically significant( χ2=93.93, P<0.01). The detection rates of corynebacterium striatum during three corresponding periods in elderly patients were 0.6%(57/8 976), 1.4%(81/5 877)and 1.9%(78/4 039), respectively, with statistically significant differences( χ2=45.57, P<0.01). The incidences or values of following indexes were higher in infection group than in colonization group: age of patients, admission of intensive care unit, malnutrition, use of hormones, combined use of antibiotics, use of invasive mechanical ventilation, use of fiber bronchoscope, reduced cough reflex, other basic diseases, and so on, but the differences were not statistically significant(all P>0.05). The clinical effective rates were 41.2%(42/102)in the infection group and 48.9%(44/90)in the colonization group, respectively, and the differences was not statistically significant( P>0.05). Only 25 patients(24.5%)in the infected group were treated on corynebacterium striatum according to drug sensitivity results.Among them, the clinical effective rate of the treatment group and the untreated group was 68.0%(17/25)and 32.5%(25/77), respectively, the difference was statistically significant( χ2=9.84, P<0.01). The clinical effective rate of untreated group was lower than that of colonization group, the difference was statistically significant( χ2=4.62, P<0.05). Conclusions:The detection rate of corynebacterium striatum in elderly patients is high, and increases year by year.Patients infected with corynebacterium striatum usually has a variety of susceptibility factors, if not taking effective treatment measures, may have adverse outcomes.In clinical work, it is necessary to pay attention to and reduce the susceptibility factors of corynebacterium striatum, and to correctly interpret the etiological reports, so as to adopt a reasonable and effective therapeutic schedule.
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INTRODUCTION: The resistance of fungal species to drugs usually used in clinics is of great interest in the medical field. OBJECTIVE: To evaluate susceptibility and in vitro response of species of Trichophyton spp. to antifungal drugs of interest in clinical medicine. METHODS: 12 samples of clinical isolates from humans were used, nine of T. mentagrophytes and three of T. tonsurans. Susceptibility tests were performed according to the agar diffusion (AD) and broth microdilution (BM) methods. RESULTS: In the AD method, the species T. tonsurans presented a percentage of sensitivity of 33% in relation to amphotericin B and 66% to itraconazole, with 100% resistance to ketoconazole and fluconazole. T. mentagrophytes also showed 100% resistance to ketoconazole in this technique, with 11% sensitivity to ketoconazole, 22% to itraconazole and 22% of samples classified as sensitive dose dependent. In the MC method, the species T. tonsurans presented a sensitivity percentage of 66%, 55% and 33% in relation to ketoconazole, fluconazole and itraconazole, respectively. The T. mentagrophytes species presented sensitivity percentages of 11%, 11%, 33% and 55% for amphotericin B, itraconazole, ketoconazole and fluconazole, respectively. CONCLUSION: There was resistance in vitro of the species of T. mentagrophytes and T. tonsurans against the antifungal fluconazole and relative resistance against ketoconazole in the AD method. In BM, however, important percentages of sensitivity were observed for the two species analyzed in relation to the antifungals fluconazole and ketoconazole when compared to itraconazole and amphotericin B.
INTRODUÇÃO: A resistência de espécies fúngicas às drogas usualmente empregadas no meio clínico é motivo de grande interesse na área médica. OBJETIVO: Avaliar susceptibilidade e resposta in vitro de espécies de Trichophyton spp. a drogas antifúngicas de interesse em clínica médica. MÉTODOS: Foram utilizadas 12 amostras de isolados clínicos de humanos, sendo nove de T. mentagrophytes e três de T. tonsurans. Foram realizados testes de susceptibilidade segundo os métodos de difusão em ágar (DA) e microdiluição em caldo (MC). RESULTADOS: No método de DA, a espécie T. tonsurans apresentou percentual de sensibilidade de 33% em relação à anfotericina B e de 66% ao itraconazol, com 100% de resistência frente ao cetoconazol e ao fluconazol. A espécie T. mentagrophytes também apresentou 100% de resistência frente ao cetoconazol nesta técnica, com 11% de sensibilidade ao cetoconazol, 22% ao itraconazol e 22% das amostras classificadas como sensível dose dependente. No método de MC, a espécie T. tonsurans apresentou percentual de sensibilidade de 66%, 55% e 33% em relação ao cetoconazol, fluconazol e itraconazol, respectivamente. A espécie T. mentagrophytes apresentou percentuais de sensibilidade de 11%, 11%, 33% e 55% para anfotericina B, itraconazol, cetoconazol e fluconazol, respectivamente. CONCLUSÃO: Houve resistência in vitro das espécies do T. mentagrophytes e T. tonsurans frente ao antifúngico fluconazol e resistência relativa frente ao cetoconazol no método de DA. Na MC, no entanto, foram observados importantes percentuais de sensibilidade das duas espécies analisadas frente aos antifúngicos fluconazol e cetoconazol quando comparadas ao itraconazol e à anfotericina B.
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Trichophyton/drug effects , Microbial Sensitivity Tests , Drug Resistance, Fungal , Disease Susceptibility/microbiology , Antifungal Agents/pharmacology , Tinea/microbiology , Tinea/drug therapy , Colony Count, Microbial , Fluconazole/pharmacology , Amphotericin B/pharmacology , Itraconazole/pharmacology , Ketoconazole/pharmacologyABSTRACT
Abstract Background: Cytochrome P450 2J2 is mostly expressed in extrahepatic tissues; it metabolizes arachidonic acid to epoxyeicosatrienoic acids, with various cardio protective and anti-inflammatory effects. CYP2J2 polymorphism has been identified as a risk factor for cardiovascular diseases, but its association with psoriasis remains unknown. Objective: To evaluate CYP2J2 polymorphism as a risk factor for psoriasis in the Turkish population. Methods: There were 94 patients with psoriasis and 100 age- and sex-matched healthy controls included in the study. Detailed demographic and clinical characteristics were recorded, and Psoriasis Area and Severity Index (PASI) scores were calculated for psoriasis patients. Venous blood samples were collected from all the participants and CYP2J2 50G>T (rs890293) polymorphism was analyzed using polymerase chain reaction (PCR). Results: Both T allele and TT + GT genotype frequencies were increased in psoriasis vulgaris patients compared to the control group (p = 0.024 and p = 0.029 respectively, OR = 2.82, 95% CI: 1.11-7.15) No association between CYP2J2 polymorphism and clinical features of psoriasis was identified. Study limitations: A limited number of patients were included in the study. Conclusion: CYP2J2 50G>T (rs890293) polymorphism was associated with an increased risk for PsV in the Turkish population.
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Humans , Male , Female , Adult , Polymorphism, Genetic , Psoriasis/genetics , Cytochrome P-450 Enzyme System/genetics , Turkey , Cardiovascular Diseases/genetics , Case-Control Studies , Polymerase Chain Reaction , Risk Factors , Age of Onset , Statistics, Nonparametric , Genetic Association Studies , Gene Frequency , Genotype , Middle AgedABSTRACT
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), similar to severe acute respiratory syndrome (SARS) coronavirus, can bind to angiotensin converting enzyme 2 (ACE2) receptor, damage multiple organs and is more contagious. Clinical studies have found that patients with cardiovascular disease are more susceptible to coronavirus disease 2019 (COVID-19), and are more prone to develop severe disease after infection and have a poor prognosis. Since patients with cardiovascular disease have more ACE2 receptors, are more prone to vascular endothelial damage, while patients with COVID often have increased plasma angiotensin II and inflammatory factors, hypoxia in body and myocardium, and blood coagulation dysfunction, so that the overall disease aggravated. At present, there is insufficient research on the specific mechanism of the interaction between COVID and cardiovascular disease (especially the mechanism of increased susceptibility to COVID in patients with cardiovascular disease). In present paper, the characteristics of the SARS-CoV-2, the susceptibility, and the concurrent characteristics of the underlying diseases are discussed, which provides reference suggestions for the next clinical and experimental steps.
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Early detection and effective monitoring of the risk signals of drug-induced liver injury (DILI) are of great importance in the prevention and management of DILI in clinical practice. However, the lack of high sensitivity and strong specificity in the detection of risk signals brings great challenges to the identification and monitoring of risk signals and causes difficulties in establishing the strategies for the prevention and control of DILI. This article analyzes the challenges in the identification of DILI risk signals, summarizes the applicability and limitations of risk signals based on commonly used indices in early recognition, prediction, and early warning of DILI, proposes an identification and monitoring model for DILI risk signals based on specific biomarkers, and elaborates on their potential clinical values, so as to provide a scientific basis for developing targeted strategies for the prevention and control of the risk of DILI.
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Objective: To investigate the association between TLR3 and TLR7 polymorphisms with susceptibility and clinical manifestations of Chikungunya Fever. Methods: A total of 177 individuals were studied: 73 patients with a confirmed diagnosis for Chikungunya virus and 104 non-infected individuals. Polymorphisms were determined by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP). Results: Our analysis showed an increased CC genotype frequency of the TLR7 rs3853839 polymorphism in male patients compared to control (29% versus 2%, respectively; OR=20.69; 95 % CI= 2.55-167.36; P<0.001). Furthermore, arthritis (acute and chronic) was frequently found in CC male patients. On the contrary, 65% of CG carriers were no-infected males (29% versus 65%, respectively; OR=0.23, 95% CI=0.48-3.04; P=0.002). Finally, we observed a higher frequency of lymphopenia in CG male patients (CG=666.86±233.77, GG=1,314.27±752.29 cells/mm3, P=0.047). Conclusions: Our results suggest the TLR7 rs3853839 polymorphism is associated with lymphopenia and increased susceptibility to Chikungunya Fever in males.
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The prevalence of gastric cancer is still relatively high in the world. There are many factors affecting the occurrence of gastric cancer, among which single nucleotide polymorphism is one of the commonly seen genetic factors, and DNA repair gene polymorphism is one of the key types. This article reviewed the progress in research on DNA repair gene polymorphism and gastric cancer susceptibility.
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Objective: To investigate the association between TLR3 and TLR7 polymorphisms with susceptibility and clinical manifestations of Chikungunya Fever. Methods: A total of 177 individuals were studied: 73 patients with a confirmed diagnosis for Chikungunya virus and 104 non-infected individuals. Polymorphisms were determined by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP). Results: Our analysis showed an increased CC genotype frequency of the TLR7 rs3853839 polymorphism in male patients compared to control (29% versus 2%, respectively; OR=20.69; 95 % CI= 2.55-167.36; P<0.001). Furthermore, arthritis (acute and chronic) was frequently found in CC male patients. On the contrary, 65% of CG carriers were no-infected males (29% versus 65%, respectively; OR=0.23, 95% CI=0.48-3.04; P=0.002). Finally, we observed a higher frequency of lymphopenia in CG male patients (CG=666.86±233.77, GG=1,314.27±752.29 cells/mm3, P=0.047). Conclusions: Our results suggest the TLR7 rs3853839 polymorphism is associated with lymphopenia and increased susceptibility to Chikungunya Fever in males.
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Objective To explore whether tumor necrosis factor receptor-associated protein 1 (TRAP1)gene copy number variation was associated with susceptibility and clinical characteristics of systemic lupus erythematosus (SLE).Methods The study enrolled 304 SLE patients and 391 healthy controls.They were used to investigate the association between TRAP1 gene copy number variation and SLE susceptibility.Then,304 SLE patients were divided into copy number=2 group and copy number＞2 group to study the association between TRAP1 gene copy number variation and disease activity or clinical characteristics of SLE.AccuCopyTM Kit was used to detect the TRAP1 gene copy number.Data analyses were performed by SPSS 10.01 software.The suitable method was selected among t test,rank sum test and x2 test for analysis based on the data type and distribution,univariate and multivariate logistic regression analysis were performed to investigate the associ-ation between TRAP1 gene copy number variation and susceptibility and clinical characteristics of SLE.Results The copy number variation of TRAP1 gene showed an association with the susceptibility to SLE crude OR=5.257,95％CI (1.108,24.937),P=0.037;the adjusted OR=5.578,95％CI (1.172,26.556),P=0.031].There was no association between TRAP1 gene copy number variation and SLE disease activity index (SLEDAI) score (Z=-0.117,P=0.907).The copy number variation of TRAP1 gene had a marginal association with skin lesions in SLE [OR=0.130,95％CI (0.016,1.069),P=0.058],but it disappeared after adjusting for potential confounders [OR=0.288,95％CI (0.029,2.831),P=0.286,PBH=0.808].There was no correlation between TRAP1 gene copy number variation and arthritis,alopecia,oral ulcers,fever,hematologic disorder,lupus nephritis as well as photosensitivity in SLE [x2=0.751,OR=1.234,95％CI (0.767,1.988),P=0.386].No multiplicative interaction was found between TRAP1 gene copy number variation and age or body mass index (BMI) [age:x2=0.751,OR=1.234,95％CI (0.767,1.988),P=0.386;BMI:x2=0.282,OR=1.172,95％CI(0.652,2.109),P=0.596].Conclusions The copy number variation of TRAP1 gene may be associated with susceptibility to SLE.Increased TRAP1 gene copy number may be a risk factor for SLE.
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Objective To investigate the relationship between the rs6682925T / C gene polymorphism of interleukin (IL)-23 receptor (IL-23R) gene and susceptibility to acute coronary syndrome (ACS). Methods A case-control study. 180 ACS patients (the disease group) and 90 patients with normal coronary angiography(control group) were selected from January 2017 to April 2018 in jingzhou central hospital. The disease group included 109 males and 71 females,aged (59.95±9.29) years old and the control group included 49 males and 41 females, aged (58.39 ± 9.43) years old. The gene polymorphism of IL-23R gene rs6682925T/C was detected by Sanger sequencing,and serum IL-23R concentration in peripheral blood was detected by ELISA. The statistical analysis methods used include normal distribution test,t test,analysis of variance and chi-square (χ2) test. Unconditional logistic regression analysis of the relationship between IL-23R gene rs6682925T/C polymorphism and susceptibility to ACS. Results There were no significant differences in gender, age, body mass index, apolipoprotein b, total cholesterol and low-density lipoprotein cholesterol between the ACS group and the control group(χ2=0.923, P>0.05;t=1.294, P>0.05;t=-0.574, P>0.05; t=- 0.417, P>0.05). However, the differences in triglyceride, fasting blood glucose, high-density lipoprotein cholesterol,smoking rate,diabetes and hypertension were statistically significant(t=5.411,P<0.05;t=5.828, P<0.05;t=-6.655, P<0.05;χ2=7.738, P<0.05;χ2=13.201, P<0.05;χ2=8.359, P<0.05). Compared with the control group, the IL-23R rs6682925 polymorphic site in ACS group had significant differences in the distribution of TT, CT, CC genotype and C allele frequency (χ2=9.858, P<0.05;χ2=10.833, P<0.05) and the frequency of C allele in the acute coronary syndrome group was significantly higher than that of the control group. In addition, the risk of rs6682925 CC genotype carriers suffer from acute coronary syndrome was 3.261 times that of TT genotype (95％CI:1.553-6.847,P=0.002). Compared with the control group,the serum IL-23R concentration in the peripheral blood of the ACS group was significantly increased [(353.20±140.79) pg/ml vs (187.41±123.36) pg/ml,t=9.495,P<0.01]. Conclusions IL-23R rs6682925 gene polymorphism is associated with genetic susceptibility to ACS, and the rs6682925 CC genotype might act as a risk factor for ACS.
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An adverse intrauterine environment due to preeclampsia can not only lead to premature birth,low birth weight and fetal intrauterine distress,but also have long-term impacts on the fetus,such as increasing their susceptibility to metabolic,cardiovascular and neurological disorders.It also increases the risk of preeclampsia in female offspring.Researches focusing on the long-term effects of preeclampsia on the future generation is helpful to understand the pathophysiological mechanism of preeclampsia and to provide timely interventions in early life to reduce the occurrence of chronic diseases in later life.
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BACKGROUND: The purpose of this study was to analyze the relationship between the gene mutation patterns by the GenoType MTBDRplus (MTBDRplus) assay and the phenotypic drug susceptibility test (pDST) results of isoniazid (INH) and prothionamide (Pto). METHODS: A total of 206 patients whose MTBDRplus assay results revealed katG or inhA mutations were enrolled in the study. The pDST results were compared to mutation patterns on the MTBDRplus assay. RESULTS: The katG and inhA mutations were identified in 68.0% and 35.0% of patients, respectively. Among the 134 isolated katG mutations, three (2.2%), 127 (94.8%) and 11 (8.2%) were phenotypically resistant to low-level INH, high-level INH, and Pto, respectively. Among the 66 isolated inhA mutations, 34 (51.5%), 18 (27.3%) and 21 (31.8%) were phenotypically resistant to low-level INH, high-level INH, and Pto, respectively. Of the 34 phenotypic Pto resistant isolates, 21 (61.8%), 11 (32.4%), and two (5.9%) had inhA, katG, and both gene mutations. CONCLUSION: It is noted that Pto may still be selected as one of the appropriate multidrug-resistant tuberculosis regimen, although inhA mutation is detected by the MTBDRplus assay until pDST confirms a Pto resistance. The reporting of detailed mutation patterns of the MTBDRplus assay may be important for clinical practice, rather than simply presenting resistance or susceptibility test results.
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Humans , Biological Assay , Disease Susceptibility , Genotype , Isoniazid , Mycobacterium , Mycobacterium tuberculosis , Prothionamide , Research Design , Tuberculosis, Multidrug-ResistantSubject(s)
Humans , Polymorphism, Genetic/genetics , Inactivation, Metabolic/genetics , Xenobiotics/metabolism , Genetic Predisposition to Disease/genetics , Arylamine N-Acetyltransferase/metabolism , Hazardous Substances/metabolism , Sulfotransferases/metabolism , Risk Factors , Glucuronosyltransferase/metabolism , Cytochrome P-450 Enzyme System/metabolism , Glutathione Transferase/metabolismABSTRACT
A periodontite é uma doença inflamatória, que pode ser classificada em Periodontite Crônica (PC) ou Periodontite Agressiva (PA), desencadeada por um desequilíbrio na microbiota subgengival, que pode ser influenciado por diversos fatores, como polimorfismos genéticos. Dessa forma, o objetivo deste trabalho foi analisar, através de uma revisão da literatura, se há ou não associação entre a periodontite e polimorfismos genéticos de nucleotídeo único (SNPs). Os genes IL1B +3954(3), -511, -31 foram os alvos desta pesquisa, por serem os mais estudados e apresentarem boa plausibilidade biológica. Foi realizada uma busca no PubMed e ao final 24 artigos de estudos casos-controle foram selecionados. Na maioria dos estudos não foi encontrada associação positiva entre os SNPs +3954(3), -511, -31 da IL1B e a PA ou PC. Dessa forma, é possível concluir que não há associação positiva entre a periodontite e os SNPs IL1B +3954(3), -511, -31 e PA e PC. Todavia os resultados devem ser analisados com cautela, pois os estudos apresentam limitações. (AU)
Periodontitis is an inflammatory disease which is classified as chronic periodontitis (PC) or aggressive periodontitis (PA) and is initiated by an unbalance in subgengival microbiota which for their part can be influenced by a lot of factors, such as genetic polymorphism. Therefore, the aim of this study was to analyse if there is an association between periodontitis and single nucleotide polymorphisms (SNPs). The genes IL1B +3954(3), -511, -31 were chosen as the targets of this literature review, because they have good biologic plausibility and are the most studied in literature. A search was conducted on PubMed and the results analysed and 24 case-controls articles were chosen.Most of the studies did not find a positive association between the ILB1 SNPs +3954(3), -511, -31 and PA e PC. Therefore, the case-controls studies indicated that there is no positive association between SNPs IL1B +3954(3), -511, -31 and PA or PC. However, the results of this work must be analysed carefully as the studies used have limitations. (AU)
Subject(s)
Periodontitis , Aggressive Periodontitis , Genetic Variation , Interleukin-1 , Genetic Predisposition to Disease , Polymorphism, Single Nucleotide/genetics , Disease Susceptibility , Interleukin-1alpha , Interleukin-1beta , Chronic Periodontitis , GenotypeABSTRACT
Objective To explore the relationship between gene polymorphisms of triggering receptor expressed on myeloid cells-1 ( TREM-1 ) rs2234237A/T, rs9471535A/G and susceptibility to coronary atherosclerotic heart disease ( coronary heart disease for short , CHD).Methods A case-control study.120 patients with CHD ( CHD group) and 90 healthy people (Normal control group ) were selected from November 2016 to April 2017 in Jingzhou Central Hospital.The single nucleotide polymorphisms (SNPs) of TREM-1gene (rs2234237 and rs9471535)were analyzed using Sanger method in all subjects. Comparing baseline clinical data and the distribution of genotype frequencies in the two groups .Non conditional logistic regression was used to analyze the relationship between TREM -1 gene ( rs2234237 and rs9471535) polymorphisms and susceptibility to CHD .Results The proportion of gender as well as level of age, body mass index, total cholesterol, triglyceride and low density lipoprotein cholesterol were not statistically significant between the two groups ( χ2＝0.575, P＞0.05; t＝-1.670, P＞0.05; t＝-1.719, P＞0.05; t＝1.011, P＞0.05; t＝-1.834, P＞0.05; t＝0.474, P＞0.05, respectively), while the proportion of smoking, hypertension and diabetes as well as level of high density lipoprotein cholesterol and fasting plasma glucose were statistically significant between the two groups (χ2＝4.321, P＜0.05; χ2＝39.213, P＜0.01; χ2＝24.184, P＜0.01; t＝5.476, P＜0.01; t＝-5.106, P＜0.01, respectively).The distribution of rs2234237, rs9471535 genotypes and alleles was statistically significant in the two groups (rs2234237: χ2＝6.893, P＜0.05; χ2＝7.159,P＜0.05, respectively; rs9471535: χ2＝8.284, P＜0.05; χ2＝8.314, P＜0.05, respectively).The genotype frequency of rs2234237(AT+TT)in CHD group was significantly lower than in the control group (38.3% vs 53.3%,χ2＝4.680, P＝0.031), and the genotype frequency of rs9471535 ( AG +GG) in CHD group was significantly lower than in the control group (37.5% vs 53.3%, χ2＝5.225, P＝0.022) .In addition, the T allele frequency of rs2234237 in CHD group was significantly lower than in the control group (21.7%vs 33.3%, χ2＝7.159, P＝0.007) , and the G allele frequency of rs9471535 in CHD group was significantly lower than in the control group(20.8%vs 33.3%, χ2＝8.314, P＝0.004).The CHD risk of people carrying rs2234237 TT was 0.173 times of AA (95% CI: 0.048 -0.629, P＝0.008), and the CHD risk of people carrying rs9471535 GG was 0.108 times of AA(95% CI: 0.026-0.450, P＝0.002).However, carriers with T allele of rs2234237(AT+TT) or with G allele of rs9471535(AG+GG)were not significantly associated with the CHD risk(P＞0.05).Conclusions TREM-1 gene rs2234237 A/T and rs9471535 A/G polymorphisms are significantly associated with susceptibility to CHD .rs2234237 TT genotype and rs9471535 GG genotype might act as protective factors of CHD.