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Background: Human leukocyte antigen-G (HLA-G) is a pivotal protein involved in immune regulation and tolerance, while systemic lupus erythematosus (SLE) is a multifaceted autoimmune condition influenced by genetic and environmental factors. Research indicates that variations and mutations in HLA-G may impact SLE development. Objective: This study aimed to explore the relationship between polymorphisms in the 3'-untranslated region (UTR) of the HLA-G gene and SLE. Methods: DNA from 100 SLE patients and 100 controls was analyzed using polymerase chain reaction to amplify the target sequence. Allele and genotype frequencies were determined, and haplotypes were assessed using Haploview v.4.2 software, with linkage disequilibrium calculated. Results: Findings revealed that the +2960 Ins allele was significantly linked to SLE as a risk factor, with the Del allele showing a protective effect. In addition, the +3010C allele and +3187A allele were significantly associated with SLE at both allele and genotype levels. The +3142 GG homozygote was notably linked to SLE at the genotype level. Haplotype analysis identified UTR-2 haplotypes as risk factors for SLE, whereas the UTR-1 haplotype was protective, shedding light on genetic factors influencing SLE risk. Conclusion: This study underscores the importance of HLA-G gene 3'-UTR polymorphisms in SLE susceptibility, suggesting their potential as diagnostic or therapeutic targets.
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Regiones no Traducidas 3' , Alelos , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Antígenos HLA-G , Haplotipos , Desequilibrio de Ligamiento , Lupus Eritematoso Sistémico , Polimorfismo de Nucleótido Simple , Humanos , Lupus Eritematoso Sistémico/genética , Antígenos HLA-G/genética , Haplotipos/genética , Regiones no Traducidas 3'/genética , Femenino , Masculino , Adulto , Frecuencia de los Genes/genética , Estudios de Casos y Controles , Polimorfismo de Nucleótido Simple/genética , Persona de Mediana Edad , Genotipo , Estudios de Asociación Genética , Factores de RiesgoRESUMEN
This study aimed to assess the response of four red grapevine (Vitis vinifera L.) varieties to elevated temperature, drought and their combination, focusing on the concentration and profile of grape flavonoids. Fruit-bearing cuttings of Tempranillo, Cabernet Sauvignon, Merlot and Grenache grew in greenhouses under, either ambient temperature (T) or ambient temperature + 4 °C (T+4). Plants also received either full irrigation (FI, substrate field capacity) or deficit irrigation (DI, 50 % substrate field capacity). In general, T+4 decreased the concentration of anthocyanins, but DI mitigated this effect. T+4 and DI increased the abundance of methylated anthocyanins and flavonols with additive effects. Grapes under T+4 had higher abundance of acylated anthocyanins, while DI increased the proportion of tri-hydroxylated anthocyanins and flavonols. The impact of interacting elevated temperature and drought on grape composition was genotype dependent. In terms of anthocyanin concentration and profile, Tempranillo was the most affected variety, whereas Grenache was less sensitive.
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Riego Agrícola , Antocianinas , Sequías , Flavonoides , Frutas , Vitis , Vitis/química , Antocianinas/análisis , Flavonoides/análisis , Riego Agrícola/métodos , Frutas/química , Calor , Genotipo , Flavonoles/análisisRESUMEN
Psittacosis, or parrot fever, is a zoonotic disease caused by Chlamydia species associated with birds. One of the causative agents of the disease is Chlamydia psittaci, which is commonly carried by psittacine and other bird species, can be highly pathogenic and virulent to humans. In Hong Kong, a city with high population density, psittacosis is a notifiable disease with over 60% of cases in the last decade resulting in hospitalization. However, the sources of transmission of C. psittaci and its prevalence in pet birds in Hong Kong are currently unknown. To evaluate the risks of psittacosis transmission through pet birds, we tested the presence of C. psittaci and determined its genotypes in samples obtained from 516 captive birds from households, pet shops, and a veterinary hospital in Hong Kong. Results revealed that five samples (0.97%), collected from budgerigars and cockatiels, were C. psittaci-positive, while four (80%) of them were obtained from pet shops. Our phylogenetic analysis revealed that all identified strains belonged to Genotype A and showed high similarity to other sequences of this genotype obtained from various geographical locations and host species, including mammals. Our findings provide evidence for the presence of Chlamydia psittaci and shed light on its sources in captive birds in Hong Kong. They highlight the potential zoonotic risks associated with this pathogen, which can affect both humans and wild birds.
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Enfermedades de las Aves , Aves , Chlamydophila psittaci , Genotipo , Mascotas , Filogenia , Psitacosis , Animales , Chlamydophila psittaci/genética , Chlamydophila psittaci/aislamiento & purificación , Hong Kong/epidemiología , Psitacosis/microbiología , Psitacosis/epidemiología , Psitacosis/veterinaria , Mascotas/microbiología , Aves/microbiología , Prevalencia , Enfermedades de las Aves/microbiología , Enfermedades de las Aves/epidemiologíaRESUMEN
BACKGROUND: Trueperella pyogenes is an opportunistic pathogen that causes suppurative infections in various animal species, including goats. So far, only limited knowledge of phenotypic and genotypic properties of T. pyogenes isolates from goats has been gathered. In our study, we characterized the phenotypic and genotypic properties of caprine T. pyogenes isolates and established their relationship by Random Amplified Polymorphic DNA-Polymerase Chain Reaction (RAPD-PCR). RESULTS: From 2015 to 2023, 104 T. pyogenes isolates were obtained from 1146 clinical materials. In addition, two T. pyogenes isolates were obtained from 306 swabs collected from healthy goats. A total of 51 T. pyogenes isolates were subjected to detailed phenotypic and genotypic characterization. The virulence genotype plo/nanH/nanP/fimA/fimC/luxS was predominant. All of the tested isolates showed the ability to form a biofilm but with different intensities, whereby most of them were classified as strong biofilm formers (72.5%). The high level of genetic diversity among tested caprine T. pyogenes isolates (19 different RAPD profiles) was observed. The same RAPD profiles were found for isolates obtained from one individual, as well as from other animals in the same herd, but also in various herds. CONCLUSIONS: This study provided important data on the occurrence of T. pyogenes infections in goats. The assessment of virulence properties and genetic relationships of caprine T. pyogenes isolates contributed to the knowledge of the epidemiology of infections caused by this pathogen in small ruminants. Nevertheless, further investigations are warranted to clarify the routes of transmission and dissemination of the pathogen.
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Actinomycetaceae , Infecciones por Actinomycetales , Variación Genética , Enfermedades de las Cabras , Cabras , Técnica del ADN Polimorfo Amplificado Aleatorio , Animales , Enfermedades de las Cabras/microbiología , Enfermedades de las Cabras/epidemiología , Virulencia/genética , Actinomycetaceae/genética , Actinomycetaceae/patogenicidad , Actinomycetaceae/aislamiento & purificación , Actinomycetaceae/clasificación , Infecciones por Actinomycetales/veterinaria , Infecciones por Actinomycetales/microbiología , Genotipo , Biopelículas/crecimiento & desarrolloRESUMEN
From the fluff generated during 2005, after the preliminary experiments (2005-2007), a promising clone G2005047 has been identified. It showed moderate resistance to red rot (3.6 on a 9-scale scoring system), less susceptibility to shoot borer (13.25%) and internode borers (25.35%), and resistance to woolly aphid (0%). In the Advanced Yield Trials (2008-2011), it showed advantages over check for cane yield (CY) (11.79%), commercial cane sugar percent (CCSP) (0.35%), and sugar yield (SY) (20.33%). To ascertain its large-scale cultivation suitability, it has experimented under adaptive research trials (2012-2014) at farmers' fields. It exhibited 18.04%, 1.27%, and 19.55% supremacy over the check Co 86032 for CY, CCSP, and SY respectively. The stability of G2005047 under salinity was ascertained through a multi-environment-based experiment (2015-2017). AMMI (Additive Main-effects and Multiplicative Interactions) and GGE (Genotype × Genotype-Environment interaction) biplots were utilized. ANOVA revealed that the genotypic variation exerted the most significant effect followed by genotype × environment interaction and environment. G2005047 had the highest mean values for yield and quality traits with minimal ASV (AMMI stability value) (2.38:CY; 0.57: CCSP; & 0.58:SY) indicating its good-yielding ability and stability. AMMI I, AMMI II, and GGE biplots confirmed the stability of G2005047. In the jaggery quality assessment trials (2018 and 2019), it yielded 37.1% increased jaggery over the check. Also, the clone G2005047, exhibited moderate resistance to red rot disease, less susceptibility to shoot borer (13.25%) and internode borer (25.35%), and resistance against sugarcane woolly aphid (SWA). Due to supremacy for yield, quality, better performance under salinized situations, and tolerance to disease and pests, the clone G2005047 was released as a variety CoG 7 in 2022.
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Saccharum , Tolerancia a la Sal , Saccharum/genética , Saccharum/parasitología , Tolerancia a la Sal/genética , Genotipo , Animales , Salinidad , Enfermedades de las Plantas/parasitología , Enfermedades de las Plantas/genética , Resistencia a la Enfermedad/genética , Áfidos/fisiologíaRESUMEN
The interaction between genotype and environment (GEI) significantly influences plant performance, crucial for breeding programs and ultimately boosting crop productivity. Alongside GEI, breeders encounter another hurdle in their quest for yield improvement, notably adverse and negative correlations among pivotal traits. This study delved into the stability of white sugar yield (WSY), root yield (RY), sugar content (SC), extraction coefficient of sugar (ECS), and the interplay among essential traits including RY, SC, alpha amino nitrogen (N), sodium (Na+), and potassium (K+) across 15 sugar beet hybrids and three control varieties. The investigation spanned two locations over two consecutive years (2022-2023), employing a randomized complete block design with four replications to comprehensively analyze these factors. The analysis of variance highlighted the significant effects of environment, genotype, and GEI at the 1% probability level. Notably, the AMMI analysis of GEI revealed the significance of the first component for WSY, RY, and SC, with the first two components proving significant for ECS. Within the linear mixed model (LMM), WSY, RY, SC, and ECS demonstrated significant effects from both genotype and GEI. In the WAASB biplot, genotypes 10, 8, 17, 6, 13, 14, 15, 7, 12, and 16 exhibited stability in WSY, while genotypes 9, 10, 6, 14, 7, 8, 13, 12, 18, and 15 displayed stability in RY. Additionally, genotypes 10, 15, 12, 13, 16, 17, 6, and 14 were stable for SC, and genotypes 8, 10, 7, 6, 13, 12, 16, 17, 15, 14, and 18 showcased stability in ECS, boasting above-average yield values. In the genotype by yield × trait (GYT) biplot, genotypes 15, 18, and 16 emerged as top performers when combining RY with SC, Na+, N, and K+, suggesting their potential for inclusion in breeding programs.
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Beta vulgaris , Genotipo , Fitomejoramiento , Beta vulgaris/genética , Beta vulgaris/crecimiento & desarrollo , Beta vulgaris/metabolismo , Fitomejoramiento/métodos , Interacción Gen-Ambiente , Fenotipo , Raíces de Plantas/genética , Raíces de Plantas/crecimiento & desarrollo , Raíces de Plantas/metabolismo , Potasio/metabolismo , Carácter Cuantitativo Heredable , Azúcares/metabolismo , Nitrógeno/metabolismoRESUMEN
OBJECTIVE: This meta-analysis aims to clarify the association between the TNF-α -308G > A and - 238G > A polymorphisms and lung cancer risk. METHOD: A comprehensive search was conducted for relevant articles across databases such as PubMed, Google Scholar, Web of Science, EMBASE, and CNKI, up to September 25, 2023. Lung cancer risk was assessed by calculating odds ratios (ORs) and their 95% confidence intervals (CIs). The Z-test was used to determine the significance of combined ORs, with P < 0.05 considered statistically significant. All analyses were performed using Comprehensive Meta-Analysis (CMA) 2.0 software. RESULTS: The analysis included 19 case-control studies with 3,838 cases and 5,306 controls for the TNF-α -308G > A polymorphism, along with 10 studies comprising 2,427 cases and 2,357 controls for the - 238G > A polymorphism. The - 308G > A polymorphism showed no significant overall relationships, though in the Asian subgroup, the A allele was significantly reduced compared to G (OR: 0.831, p = 0.028) and the AA genotype showed significant reductions versus GG (OR: 0.571, p = 0.021), with no significant correlation in Caucasians. In non-small cell lung cancer (NSCLC), the A allele was associated with increased risk compared to G (OR: 1.131, p = 0.049). For the - 238G > A polymorphism, the AA genotype significantly increased risk compared to GG (OR: 3.171, p = 0.014), while showing a protective effect in Caucasians (OR: 0.120, p = 0.024) and a heightened risk in Asians (OR: 7.990, p = 0.007). In small cell lung cancer (SCLC), the A allele conferred protective effects, whereas NSCLC showed increased risk for the AA genotype (OR: 11.375, p = 0.002). CONCLUSION: The - 308G > A polymorphism has no significant overall relationships but suggests a protective role of the A allele in the Asian subgroup. Conversely, the - 238G > A polymorphism presents a complex risk profile, increasing lung cancer likelihood in Asians while protecting Caucasians. Notably, the AA genotype significantly raises risk for NSCLC, indicating its potential as a risk factor.
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Predisposición Genética a la Enfermedad , Neoplasias Pulmonares , Polimorfismo de Nucleótido Simple , Factor de Necrosis Tumoral alfa , Humanos , Neoplasias Pulmonares/genética , Factor de Necrosis Tumoral alfa/genética , Estudios de Casos y Controles , Alelos , Pueblo Asiatico/genética , Oportunidad Relativa , Genotipo , Factores de Riesgo , Población Blanca/genéticaRESUMEN
In forensic genetics, utilizing massively parallel sequencing (MPS) to analyze short tandem repeats (STRs) has demonstrated several advantages compared to conventional capillary electrophoresis (CE). Due to the current technical limitations, although flanking region polymorphisms had been mentioned in several previous studies, most studies focused on the core repeat regions of STRs or the variations in the adjacent flanking regions. In this study, we developed an MPS system consisting of two sets of multiplex PCR systems to detect not only the STR core repeat regions but also to observe variants located at relatively distant positions in the flanking regions. The system contained 42 commonly used forensic STRs, including 21 autosomal STRs (A-STRs) and 21 Y-chromosomal STRs (Y-STRs), and a total of 350 male individuals from a Chinese Han population were genotyped. The length and sequence variants per locus were tallied and categorized based on length (length-based, LB), sequence without flanking region (core repeat regions sequence-based, RSB), and sequence with flanking region (core repeat and flanking regions sequence-based, FSB), respectively. Allele frequencies, Y-haplotype frequencies, and forensic parameters were calculated based on LB, RSB, and FSB, respectively, to evaluate the improvement in discrimination power, heterozygosity, and effectiveness of forensic systems. The results suggested the sequence variations have more influence on A-STRs and could improve the identification ability of MPS-STR genotyping. Concordance between MPS and CE methods was confirmed by using commercial CE-based STR kits. The impact of flanking region variations on STR genotype analysis and potential factors contributing to discordances were discussed. A total of 58 variations in the flanking regions (53 SNPs/SNVs and 5 InDels) were observed and most variations (48/58) were distributed in A-STRs. In summary, this study delved deeper into the genetic information of forensic commonly used STR and advanced the application of massively parallel sequencing in forensic genetics.
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Cromosomas Humanos Y , Frecuencia de los Genes , Secuenciación de Nucleótidos de Alto Rendimiento , Repeticiones de Microsatélite , Humanos , Cromosomas Humanos Y/genética , Masculino , Genética Forense/métodos , Haplotipos , Variación Genética , GenotipoRESUMEN
The CYP2C19 enzyme metabolizes clopidogrel, a prodrug, to its active form. Approximately 30% of individuals inherit a loss-of-function (LoF) polymorphism in the CYP2C19 gene, leading to reduced formation of the active clopidogrel metabolite. Reduced clopidogrel effectiveness has been well documented in patients with an LoF allele following an acute coronary syndrome or percutaneous coronary intervention. Prasugrel or ticagrelor is recommended in those with an LoF allele as neither is affected by CYP2C19 genotype. Although data demonstrate improved outcomes with a CYP2C19-guided approach to P2Y12 inhibitor selection, genotyping has not yet been widely adopted in clinical practice.
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Citocromo P-450 CYP2C19 , Antagonistas del Receptor Purinérgico P2Y , Humanos , Antagonistas del Receptor Purinérgico P2Y/uso terapéutico , Citocromo P-450 CYP2C19/genética , Síndrome Coronario Agudo/tratamiento farmacológico , Síndrome Coronario Agudo/genética , Clopidogrel/uso terapéutico , Intervención Coronaria Percutánea/métodos , Genotipo , Ticagrelor/uso terapéutico , Inhibidores de Agregación Plaquetaria/uso terapéutico , Clorhidrato de Prasugrel/uso terapéutico , Polimorfismo GenéticoRESUMEN
Most Plasmodium vivax infections contain genetically distinct parasites, but the consequences of this polyclonality on the development of asexual parasites, their sexual differentiation, and their transmission remain unknown. We describe infections of Saimiri monkeys with two strains of P. vivax and the analyses of 80,024 parasites characterized by single cell RNA sequencing and individually genotyped. In our model, consecutive inoculations fail to establish polyclonal infections. By contrast, simultaneous inoculations of two strains lead to sustained polyclonal infections, although without detectable differences in parasite regulation or sexual commitment. Analyses of sporozoites dissected from mosquitoes fed on coinfected monkeys show that all genotypes are successfully transmitted to mosquitoes. However, after sporozoite inoculation, not all genotypes contribute to the subsequent blood infections, highlighting an important bottleneck during pre-erythrocytic development. Overall, these studies provide new insights on the mechanisms regulating the establishment of polyclonal P. vivax infections and their consequences for disease transmission.
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Genotipo , Malaria Vivax , Plasmodium vivax , Saimiri , Análisis de la Célula Individual , Esporozoítos , Animales , Plasmodium vivax/genética , Plasmodium vivax/fisiología , Malaria Vivax/transmisión , Malaria Vivax/parasitología , Femenino , Culicidae/parasitología , Humanos , MasculinoRESUMEN
Dengue virus (DENV) is one of the most significant mosquito-borne diseases in Nepal. In 2023, DENV outbreaks began in Eastern Nepal, near the border with India, and rapidly spread nationwide. The study aims to describe the outbreak's epidemiological pattern, laboratory characteristics, DENV serotypes, and genotypes. A hospital-based cross-sectional study was conducted in four hospitals in Jhapa, Eastern Nepal, in 2023. Acute serum samples were obtained from dengue suspected patients within 7 days of illness and subjected to virus isolation, conventional and real-time polymerase chain reaction (RT-PCR), and phylogenetic analysis. Out of 60 samples, 42 (70 %), 11 (18.3 %) and 7 (11.7 %) were primary, secondary and non-dengue infection, respectively. Among 53 dengue confirmed patients, 46 (86.7 %) were positive for NS1 and 12 (22.6 %) were positive for both NS1 and IgM. Out of 42 dengue isolates, a new clade of the cosmopolitan genotype of DENV-2 was the most prevalent (28, 66.7 %), followed by genotype III of DENV-3 (11, 26.2 %) and genotype V of DENV-1 (3, 7.1 %). Genotype III of DENV-3 was first introduced in 2022-2023 in Nepal. Phylogenetic analysis of the E gene revealed the DENV-2 isolates from Nepal had 98 % homologous nucleotide similarity with the strains from India and Bangladesh. To our knowledge, this is the first report of circulating serotypes and genotypes of DENV in Jhapa. Integrating molecular findings into the dengue control plan can enhance surveillance efforts, monitor disease trends, and implement proactive measures to reduce the burden of dengue and prevent fatalities in future outbreaks.
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Virus del Dengue , Dengue , Brotes de Enfermedades , Genotipo , Filogenia , Serogrupo , Humanos , Virus del Dengue/genética , Virus del Dengue/clasificación , Virus del Dengue/aislamiento & purificación , Dengue/epidemiología , Dengue/virología , Nepal/epidemiología , Estudios Transversales , Adulto , Masculino , Femenino , Adolescente , Adulto Joven , Persona de Mediana Edad , Niño , Preescolar , Anciano , ARN Viral/genéticaRESUMEN
Nitrogen (N) is an important nutrient element needed by cassava for optimum yield and it is a vital component of nucleotides (nucleic acids), enzymes, amino acids (proteins), chlorophyll molecules and hormones, among other essential compounds required for growth and development of cassava. Nitrogen stress is a major cassava production constraint, the study aimed to examine genotype by environment interaction (GEI) effects and fresh root yield stability of 203 diverse cassava clones to identify genotypes with stable performance under low and optimum nitrogen regimes across environments using AMMI and GGE biplot analysis. Experiments were conducted using an augmented block design with three replications for two years in three locations in Nigeria. There were significant differences (p < 0.001) in the genotype's mean performances as well as significant differences (p < 0.001) in the environment's mean performances for all the traits measured in both nitrogen regimes. The AMMI analysis of variance showed significant effects (p < 0.001) for genotypes, environments and the interactions for fresh root yield in both nitrogen regimes. The biplot analysis showed that for fresh root yield in the optimum nitrogen regime, the principal component accounted for 81.54% of the G + GE (Genotype plus and Genotype by Environment) variation. The G + GE for fresh root yield in the low nitrogen regime accounted for a total of 71.64% of the variation. Ten genotypes were identified as the best genotypes under the optimum nitrogen regime, while eleven genotypes were the best under the low nitrogen regime. Three genotypes under optimum nitrogen regimes were high-yielding. Still, they were unstable in their fresh root yield performance across the environments and can be recommended as specifically adapted to the environments they performed best. Three other genotypes were high-yielding genotypes under low nitrogen but were highly unstable in their fresh root yield mean performance across the environments. The environments Otobi_YR1, Igbariam_YR2, and Umudike_YR1 were identified as the most discriminatory among the test environments. The environments Umudike_YR2 and Igbariam_YR1 were identified as the most representative of the test environments and can represent a mega-environment. The best 21 genotypes that performed above the grand mean for fresh root yield in both nitrogen regimes can be further evaluated on the farmer's field for possible advancement.
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Interacción Gen-Ambiente , Genotipo , Manihot , Nitrógeno , Raíces de Plantas , Manihot/genética , Manihot/crecimiento & desarrollo , Manihot/metabolismo , Nitrógeno/metabolismo , Raíces de Plantas/crecimiento & desarrollo , Raíces de Plantas/genética , Raíces de Plantas/metabolismo , NigeriaRESUMEN
Drought is one of the major environmental issues that reduce crop yield. Seed germination is a crucial stage of plant development in all crop plants, including soybean. In soybean breeding, information about genetic mechanism of drought tolerance has great importance. However, at germination stage, there is relatively little knowledge on the genetic basis of soybean drought resistance. The objective of this work was to find the quantitative trait nucleotides (QTNs) linked to drought tolerance related three traits using a genome-wide association study (GWAS), viz., germination rate (GR), root length (RL), and whole seedling length (WSL), using germplasm population of 240 soybean PIs with 34,817 SNPs genotype data having MAF > 0.05. It was observed that heritability (H2) for GR, WSL, and RL across both environments (2020, and 2019) were high in the range of 0.76-0.99, showing that genetic factors play a vital role in drought tolerance as compared to environmental factors. A number of 23 and 27 QTNs were found to be linked to three traits using MLM and mrMLM, respectively. Three significant QTNs, qGR8-1, qWSL13-1, and qRL-8, were identified using both MLM and mrMLM methods among these QTNs. QTN8, located on chromosome 8 was consistently linked to two traits (GR and RL). The area (± 100 Kb) associated with this QTN was screened for drought tolerance based on gene annotation. Fifteen candidate genes were found by this screening. Based on the expression data, four candidate genes i.e. Glyma08g156800, Glyma08g160000, Glyma08g162700, and Glyma13g249600 were found to be linked to drought tolerance regulation in soybean. Hence, the current study provides evidence to understand the genetic constitution of drought tolerance during the germination stage and identified QTNs or genes could be utilized in molecular breeding to enhance the yield under drought stress.
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Sequías , Estudio de Asociación del Genoma Completo , Germinación , Glycine max , Sitios de Carácter Cuantitativo , Semillas , Glycine max/genética , Glycine max/crecimiento & desarrollo , Glycine max/fisiología , Germinación/genética , Semillas/genética , Semillas/crecimiento & desarrollo , Polimorfismo de Nucleótido Simple , Estrés Fisiológico/genética , Genotipo , Fenotipo , Resistencia a la SequíaRESUMEN
The characteristics of the host are crucial in the final outcome of COVID-19. Herein, the influence of genetic and clinical variants in COVID-19 severity was investigated in a total of 1350 patients. Twenty-one single nucleotide polymorphisms of genes involved in SARS-CoV-2 sensing as Toll-like-Receptor 7, antiviral immunity as the type I interferon signalling pathway (TYK2, STAT1, STAT4, OAS1, SOCS) and the vasoactive intestinal peptide and its receptors (VIP/VIPR1,2) were studied. To analyse the association between polymorphisms and severity, a model adjusted by age, sex and different comorbidities was generated by ordinal logistic regression. The genotypes rs8108236-AA (OR 0.12 [95% CI 0.02-0.53]; p = 0.007) and rs280519-AG (OR 0.74 [95% CI 0.56-0.99]; p = 0.03) in TYK2, and rs688136-CC (OR 0.7 [95% CI 0.5-0.99]; p = 0.046) in VIP, were associated with lower severity; in contrast, rs3853839-GG in TLR7 (OR 1.44 [95% CI 1.07-1.94]; p = 0.016), rs280500-AG (OR 1.33 [95% CI 0.97-1.82]; p = 0.078) in TYK2 and rs1131454-AA in OAS1 (OR 1.29 [95% CI 0.95-1.75]; p = 0.110) were associated with higher severity. Therefore, these variants could influence the risk of severe COVID-19.
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COVID-19 , Polimorfismo de Nucleótido Simple , SARS-CoV-2 , Índice de Severidad de la Enfermedad , Humanos , COVID-19/genética , COVID-19/inmunología , COVID-19/virología , Masculino , Femenino , Persona de Mediana Edad , SARS-CoV-2/genética , SARS-CoV-2/inmunología , Anciano , Adulto , Receptor Toll-Like 7/genética , TYK2 Quinasa/genética , Genotipo , Predisposición Genética a la Enfermedad , 2',5'-Oligoadenilato Sintetasa/genéticaRESUMEN
BACKGROUND: Nosocomial infections are a global problem in hospitals all around the world. It is considered a major health problem, especially in developing countries. The increase in the patient's stay in hospitals has increased the mortality rate, and consequently, the costs drastically increase. The main purpose of using disinfectants in the hospital environment is to reduce the risk of nosocomial infections. Ethylene diamine tetra acetic acid (EDTA) causes lysis and increases susceptibility to antimicrobial agents in the planktonic form of bacteria. This substance affects the permeability of the outer membrane of bacteria. It also prevents the formation of biofilms by bacteria. MATERIALS AND METHODS: In the current study, 120 isolates of Acinetobacter baumannii (A. baumannii) were confirmed by phenotypic and genotypic methods. Antibiogram was performed and then the minimum inhibitory concentration (MIC) and minimum bactericidal concentration (MBC) of isolates against 5% sodium hypochlorite, ethanol %70, sayasept-HP 2%, chlorhexidine 2%, dettol 4/8% were evaluated. In addition, the disinfectant effect was re-evaluated with the mixture of EDTA solution. All isolates were examined for biofilm presence by crystal violet staining method in triplicates and repeated three times for each strain. Also for all isolates detection of efflux pump genes (Qac-E, qacE-Δ1, SUG-E) by PCR technique was done. RESULTS: Antibiogram results of A. baumannii showed that 6.7% were Multi-drug-resistant (MDR), and 89.2% were Extensively drug-resistant (XDR) isolates. The highest effect of disinfectants was related to 5% sodium hypochlorite, and the least effect was 70% ethanol. EDTA increases the efficacy of selected disinfectants significantly. The highest prevalence of the efflux pump genes was related to SUG-E (95%) and Qac-E (91.7%), and, the qacE-Δ1 gene with 12.5%. The biofilm production rate was 91.3% among all isolates. CONCLUSION: The best and safest way to disinfect hospital floors and surfaces is to choose the right disinfectants, and learn how to use them properly. In this study, a mixture of disinfectants and EDTA had a significant effect on bactericidal activity. it was found that improper use of disinfectants, especially the use of sub-inhibitory dilutions, increases the resistance of bacteria to disinfectants.
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Acinetobacter baumannii , Biopelículas , Desinfectantes , Genotipo , Pruebas de Sensibilidad Microbiana , Fenotipo , Biopelículas/efectos de los fármacos , Biopelículas/crecimiento & desarrollo , Acinetobacter baumannii/efectos de los fármacos , Acinetobacter baumannii/genética , Acinetobacter baumannii/fisiología , Acinetobacter baumannii/aislamiento & purificación , Desinfectantes/farmacología , Humanos , Irán , Ácido Edético/farmacología , Farmacorresistencia Bacteriana/genética , Antibacterianos/farmacología , Infecciones por Acinetobacter/microbiología , Hipoclorito de Sodio/farmacología , Infección Hospitalaria/microbiología , Clorhexidina/farmacologíaRESUMEN
Toxoplasma gondii, a common protozoan parasite, poses significant public health risks due to its potential to cause toxoplasmosis in humans and can be contracted from pigs, which are considered its critical intermediate host. The aim of this study is to evaluate the prevalence of T. gondii in slaughtered pigs for human consumption, emphasizing the zoonotic implications and the need for improved biosecurity and monitoring practices in pig farming. A total of 1,526 pig samples (1,051 whole blood samples and 384 lung tissue samples from the local slaughterhouse and 91 aborted fetus samples from local farms) were collected throughout the whole country of Korea in 2020. Among them, 6 (0.4%) were found to be infected with T. gondii by nested PCR. When compared by sample type, the prevalence of T. gondii was significantly higher in the aborted fetus samples (2.2%, 2/91) than in the blood (0.3%, 3/1,051) and lung tissue samples (0.3%, 1/384). The B1 gene sequence of T. gondii was similar (97.9-99.8%) to that of the other T. gondii isolates. This study represents the first molecular genotyping survey of T. gondii in the lung tissue of fattening pigs and aborted fetuses in Korea. Our findings indicated the importance of adopting preventive measures including the implementation of rigorous farm hygiene protocols and the promotion of public awareness about the risks of consuming undercooked pork. By addressing the gaps in current control strategies and encouraging the One Health approach, this study contributes to the development of more effective strategies to mitigate the transmission of T. gondii from pigs to humans, ultimately safeguarding public health.
Asunto(s)
Genotipo , Enfermedades de los Porcinos , Toxoplasma , Toxoplasmosis Animal , Animales , Toxoplasma/genética , Toxoplasma/aislamiento & purificación , República de Corea/epidemiología , Porcinos , Toxoplasmosis Animal/epidemiología , Toxoplasmosis Animal/parasitología , Enfermedades de los Porcinos/parasitología , Enfermedades de los Porcinos/epidemiología , Enfermedades de los Porcinos/transmisión , Prevalencia , Mataderos , Pulmón/parasitología , Reacción en Cadena de la Polimerasa , Humanos , ADN Protozoario/genética , Feto Abortado/parasitologíaRESUMEN
While HC2 and GP5+/6+ PCR-EIA were pivotal in test validation of new HPV assays, they represent the first generation of comparator tests based upon technologies that are not in widespread use anymore. In the current guideline, criteria for second-generation comparator tests are presented that include more detailed resolution of HPV genotypes. Second-generation comparator tests should preferentially target only the 12 genotypes classified as carcinogenic (IARC-group I), and show consistent non-inferior sensitivity for CIN2+ and CIN3+ and specificity for ≤CIN1 compared to one of the first-generations comparators, in at least three validation studies using benchmarks of 0.95 for relative sensitivity and 0.98 for relative specificity. Validation should take into account used storage media and other sample handling procedures. Meta-analyses were conducted to identify the assays that fulfill these stringent criteria. Four tests fulfilled the new criteria: (1) RealTime High-Risk HPV Test (Abbott), (2) Cobas-4800 HPV test (Roche Molecular System), (3) Onclarity HPV Assay (BD Diagnostics), and (4) Anyplex II HPV HR Detection (Seegene), each evaluated in three to six studies. Whereas the four assays target 14 carcinogenic genotypes, the first two identify separately HPV16 and 18, the third assay identifies five types separately and the fourth identifies all the types separately.
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Detección Precoz del Cáncer , Papillomaviridae , Infecciones por Papillomavirus , Sensibilidad y Especificidad , Neoplasias del Cuello Uterino , Femenino , Humanos , ADN Viral/genética , Detección Precoz del Cáncer/métodos , Genotipo , Pruebas de ADN del Papillomavirus Humano/métodos , Pruebas de ADN del Papillomavirus Humano/normas , Técnicas de Diagnóstico Molecular/métodos , Técnicas de Diagnóstico Molecular/normas , Papillomaviridae/genética , Papillomaviridae/clasificación , Papillomaviridae/aislamiento & purificación , Infecciones por Papillomavirus/diagnóstico , Infecciones por Papillomavirus/virología , Neoplasias del Cuello Uterino/diagnóstico , Neoplasias del Cuello Uterino/virologíaRESUMEN
The whole-genome sequence (WGS) analysis of Aichivirus (AiV) identified in Korea was performed in this study. Using Sanger and Nanopore sequencing, the 8228-nucleotide-long genomic sequence of AiV (OQ121963) was determined and confirmed to belong to genotype A. The full-length genome of OQ121963 consisted of a 7296 nt open reading frame (ORF) that encodes a single polyprotein, and 5' UTR (676 nt) and 3' UTR (256 nt) at 5' and 3' ends, respectively. The ORF consisted of leader protein (L), structural protein P1 (VP0, VP1, and VP3), and nonstructural protein P2 (2A, 2B, and 2C) and P3 (3A, 3B, 3C, and 3D). The secondary structure analysis of the 5' UTR identified only stem-loop C (SL-C) and not SL-A and SL-B. The variable region of the AiV genome was analyzed by MegAlign Pro and reconfirmed by SimPlot analysis using 16 AiV whole genomes known to date. Among the entire regions, structural protein region P1 showed the lowest amino acid identity (96.07%) with reference sequence AB040749 (originated in Japan; genotype A), while the highest amino acid identity (98.26%) was confirmed in the 3D region among nonstructural protein region P2 and P3. Moreover, phylogenetic analysis of the WGS of OQ121963 showed the highest homology (96.96%) with JX564249 (originated in Taiwan; genotype A) and lowest homology (90.14%) with DQ028632 (originated in Brazil; genotype B). Therefore, the complete genome characterization of OQ121963 and phylogenetic analysis of the AiV conducted in this study provide useful information allowing to improve diagnostic tools and epidemiological studies of AiVs.
Asunto(s)
Genoma Viral , Genotipo , Kobuvirus , Sistemas de Lectura Abierta , Filogenia , Secuenciación Completa del Genoma , Genoma Viral/genética , República de Corea , Humanos , Kobuvirus/genética , Kobuvirus/clasificación , Kobuvirus/aislamiento & purificación , Infecciones por Picornaviridae/virología , Infecciones por Picornaviridae/epidemiología , Regiones no Traducidas 5'/genética , Adulto , ARN Viral/genética , Regiones no Traducidas 3'/genéticaRESUMEN
The synthesis of fatty acids plays a critical role in shaping milk production characteristics in dairy cattle. Thus, identifying effective haplotypes within the fatty acid metabolism pathway will provide novel and robust insights into the genetics of dairy cattle. This study aimed to comprehensively examine the individual and combined impacts of fundamental genes within the fatty acid metabolic process pathway in Jersey cows. A comprehensive phenotypic dataset was compiled, considering milk production traits, to summarize a cow's productivity across three lactations. Genotyping was conducted through PCR-RFLP and Sanger sequencing, while the association between genotype and phenotype was quantified using linear mixed models. Moderate biodiversity and abundant variation suitable for haplotype analysis were observed across all examined markers. The individual effects of the FABP3, LTF and ANXA9 genes significantly influenced both milk yield and milk fat production. Additionally, this study reveals novel two-way interactions between genes in the fatty acid metabolism pathway that directly affect milk fat properties. Notably, we identified that the GGAAGG haplotype in FABP3×LTF×ANXA9 interaction may be a robust genetic marker concerning both milk fat yield and percentage. Consequently, the genotype combinations highlighted in this study serve as novel and efficient markers for assessing the fat content in cow's milk.
Asunto(s)
Ácidos Grasos , Lactancia , Leche , Animales , Bovinos/genética , Bovinos/fisiología , Ácidos Grasos/metabolismo , Leche/química , Leche/metabolismo , Femenino , Lactancia/genética , Haplotipos , Variación Genética , Genotipo , Fenotipo , Proteína 3 de Unión a Ácidos Grasos/genética , Proteína 3 de Unión a Ácidos Grasos/metabolismo , Anexinas/genética , Anexinas/metabolismoRESUMEN
OBJECTIVE: To explore the Rh genotype for a female with RhD(-) blood type and its molecular basis. METHODS: A 26-year-old female who had attended the outpatient clinic of the First Affiliated Hospital of Zhengzhou University in August 2019 was selected as the study subject. Peripheral blood samples were collected from the proband and her parents for Rh phenotyping with gel card method. PCR-sequence-based typing (PCR-SBT) and DNA sequencing were used to determine the RHD zygosity and Rh genotype of the proband and her parents. Homology modeling of Rh proteins was performed with bioinformatic software, and protein structural alterations caused by the variant was simulated by molecular dynamics. RESULTS: Serological tests showed that the proband and her father both had weakened e antigen of the Rh phenotype. PCR-SBT and DNA sequencing showed that the genotypes of the proband and her parents were dce/dCE, dce/DcE and dCE/DcE, respectively. And the genotypes of the RHD and RHCE of the proband were RHD*01N.01/RHD*01N.16, RHCE*01.01/RHCE*04, respectively. Protein simulation and molecular dynamics analysis revealed that the ce_16C variant resulted from RHCE*ce (c.48G>C) may alter the structure of intracellular and extracellular loops, mainly affecting the mobility of extracellular loops 2, 6 and intracellular loops 3, 4. CONCLUSION: Variant of the RHCE*ce allele c.48G>C probably underlay the weakened e antigen in this proband.