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1.
Sci Total Environ ; 947: 174713, 2024 Jul 10.
Artículo en Inglés | MEDLINE | ID: mdl-38997020

RESUMEN

The potential risk of heavy metals (HMs) to public health is an issue of great concern. Early prediction is an effective means to reduce the accumulation of HMs. The current prediction methods rarely take internal correlations between environmental factors into consideration, which negatively affects the accuracy of the prediction model and the interpretability of intrinsic mechanisms. Graph representation learning (GraRL) can simultaneously learn the attribute relationships between environmental factors and graph structural information. Herein, we developed the GraRL-HM method to predict the HM concentrations in soil-rice systems. The method consists of two modules, which are PeTPG and GCN-HM. In PeTPG, a graphic structure was generated using graph representation and communitization technology to explore the correlations and transmission paths of different environmental factors. Subsequently, the GCN-HM model based on the graph convolutional neural network (GCN) was used to predict the HM concentrations. The GraRL-HM method was validated by 2295 sets of data covering 21 environmental factors. The results indicated that the PeTPG model simplified correlation paths between factor nodes from 396 to 184, reducing by 53.5 % graph scale by eliminating the invalid paths. The concise and efficient graph structure enhanced the learning efficiency and representation accuracy of downstream prediction models. The GCN-HM model was superior to the four benchmark models in predicting the HM concentration in the crop, improving R2 by 36.1 %. This study develops a novel approach to improve the prediction accuracy of pollutant accumulation and provides valuable insights into intelligent regulation and planting guidance for heavy metal pollution control.

3.
Sci Total Environ ; 946: 174147, 2024 Jun 22.
Artículo en Inglés | MEDLINE | ID: mdl-38909800

RESUMEN

Environmental behaviors of heavy metal in soil are strongly influenced by seasonal freeze-thaw events at the mid-high altitudes. However, the potential impact mechanisms of freeze-thaw cycles on the vertical migration of heavy metal are still poor understood. This study aimed to explore how exogenous cadmium (Cd) migrated and remained in soil during the in-situ seasonal freeze-thaw action using rare earth elements (REEs) as tracers. As a comparison, soil which was incubated in the controlled laboratory (25 °C) was employed. Although there was no statistically significant difference in the Cd levels of different soil depths under different treatments, the original aggregate sources of Cd in the 5-10 cm and 10-15 cm soil layers differed. From the distributions of REEs in soil profile, it can be known that Cd in the subsurface of field incubated soil was mainly from the breakdown of >0.50 mm aggregates, while it was mainly from the <0.106 mm aggregates for the laboratory incubated soil. Furthermore, the dissolved and colloidal Cd concentrations were 0.47 µg L-1 and 0.62 µg L-1 in the leachates from field incubated soil than those from control soil (0.21 µg L-1 and 0.43 µg L-1). Additionally, the colloid-associated Cd in the leachate under field condition was mainly from the breakdown of >0.25 mm aggregates and the direct migration of <0.106 mm aggregates, while it was the breakdown of >0.50 mm and the direct migration of <0.106 mm aggregates for the soil under laboratory condition. Our results for the first time provided insights into the fate of exogenous contaminants in seasonal frozen regions using the rare earth element tracing method.

4.
Environ Res ; 253: 119167, 2024 Jul 15.
Artículo en Inglés | MEDLINE | ID: mdl-38762006

RESUMEN

Phthalate esters (PAEs) have become one of the most concerned emerging organic pollutants in the world, due to the toxicity to human health, and hard to remove it efficiently. In this study, the degradation performance of DBP and DEHP in the soil by water bath heating activated sodium persulfate (PS) method under different factors were studied, in which the degradation rate of DBP and DEHP were improved with the increasing of temperature, PS concentration and water/soil ratio, and higher diffusion efficiency treatments methods, due to the improved mass transfer from organic phase to aqueous media. However, the degradation rate of DEHP was much lower than that of DBP, because DEHP in the soil was more difficult to contact with SO4•- for reaction on soil surface, and the degradation rate of PAEs in soil was significantly lower than that in water. Redundancy analysis of degradation rate of DBP and DEHP in water demonstrated that the key factors that determine the degradation rate is time for DBP, and cosolvent dosage for DEHP, indicating that the solubility and diffusion rate of PAEs from soil to aqueous are predominance function. This study provides comprehensive scenes in PAEs degradation with persulfate oxidation activated by thermal in soil, reveal the difference of degradation between DBP and DEHP is structure-dependent. So that we provide fundamental understanding and theoretical operation for subsequent filed treatment of various structural emerging pollutants PAEs contaminated soil with thermal activated persulfate.


Asunto(s)
Oxidación-Reducción , Ácidos Ftálicos , Contaminantes del Suelo , Suelo , Sulfatos , Sulfatos/química , Ácidos Ftálicos/química , Contaminantes del Suelo/química , Suelo/química , Ésteres/química , Compuestos de Sodio/química , Calor
5.
Environ Sci Technol ; 58(13): 5987-5995, 2024 Apr 02.
Artículo en Inglés | MEDLINE | ID: mdl-38504492

RESUMEN

Sorption to activated carbon is a common approach to reducing environmental risks of waterborne perfluorooctanoic acid (PFOA), while effective and flexible approaches to PFOA sorption are needed. Variations in temperature or the use of electrokinetic phenomena (electroosmosis and electromigration) in the presence of external DC electric fields have been shown to alter the contaminant sorption of contaminants. Their role in PFOA sorption, however, remains unclear. Here, we investigated the joint effects of DC electric fields and the temperature on the sorption of PFOA on activated carbon. Temperature-dependent batch and column sorption experiments were performed in the presence and absence of DC fields, and the results were evaluated by using different kinetic sorption models. We found an emerging interplay of DC and temperature on PFOA sorption, which was linked via the liquid viscosity (η) of the electrolyte. For instance, the combined presence of a DC field and low temperature increased the PFOA loading up to 38% in 48 h relative to DC-free controls. We further developed a model that allowed us to predict temperature- and DC field strength-dependent electrokinetic benefits on the drivers of PFOA sorption kinetics (i.e., intraparticle diffusivity and the film mass transfer coefficient). Our insights may give rise to future DC- and temperature-driven applications for PFOA sorption, for instance, in response to fluctuating PFOA concentrations in contaminated water streams.


Asunto(s)
Fluorocarburos , Contaminantes Químicos del Agua , Temperatura , Carbón Orgánico , Adsorción , Fluorocarburos/análisis , Caprilatos , Cinética , Contaminantes Químicos del Agua/análisis
6.
Immun Inflamm Dis ; 11(12): e1103, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-38156381

RESUMEN

OBJECTIVE: B-cell activating factor (BAFF) is a key regulator of primary Sjögren's syndrome (pSS), which is characterized by B-lymphocyte hyperactivity. BAFF, also known as tumor necrosis factor ligand superfamily member 13B, is encoded by TNFSF13B. This study aimed to explore the possible relationships between five single-nucleotide polymorphisms (SNPs) of TNFSF13B (rs9514827, rs1041569, rs9514828, rs1224141, and rs12583006) and pSS susceptibility. METHODS: We searched the following databases for articles on TNFSF13B polymorphism and pSS published up to January 2023: PubMed, Cochrane, Elsevier, Web of Science, CNKI, CQVIP, and WanFang. The odds ratios (with 95% confidence intervals) of genotypes and SNP alleles of TNFSF13B were investigated in patients with pSS to determine their relationships with pSS. RESULTS: This meta-analysis employing the fixed-effect model comprised three studies of pSS patients and randomly selected healthy controls (HCs), revealing statistically significant relationships between pSS susceptibility and two SNPs: rs1041569 and rs12583006. Because rs1041569 was not in Hardy-Weinberg equilibrium in the HC group, it was eliminated from the analysis. CONCLUSIONS: Polymorphisms in the BAFF (TNFSF13B) gene were related to vulnerability to pSS among pSS patients and HCs alike. The SNP rs12583006 was significantly related to pSS susceptibility in pSS patients.


Asunto(s)
Factor Activador de Células B , Síndrome de Sjögren , Humanos , Factor Activador de Células B/genética , Síndrome de Sjögren/genética , Genotipo , Polimorfismo de Nucleótido Simple , Alelos
7.
Ecotoxicol Environ Saf ; 259: 115037, 2023 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-37210996

RESUMEN

Peri-urban vegetable field plays an essential role in providing vegetables for local residents. Because of its particularity, it is affected by both industrial and agricultural activities which have led to the accumulations of heavy metal in soil. So far, information on heavy metal pollution status, spatial features, and human health risks in peri-urban vegetable areas across China is still scarce. To fill this gap, we systematically compiled soil and vegetable data collected from 123 articles published between 2010 and 2022 at a national level. The pollution status of heavy metals (i.e., cadmium (Cd), mercury (Hg), arsenic (As), lead (Pb), chromium (Cr), copper (Cu), nickel (Ni), and zinc (Zn)) in peri-urban vegetable soils and vegetables were investigated. To evaluate the levels of heavy metal pollution in soil and human health risks, the geoaccumulation index (Igeo) and target hazard quotient (HQ) were calculated. The results showed that mean concentrations of Cd, Hg, As, Pb, Cr, Cu, Ni, and Zn in peri-urban vegetable soils were 0.50, 0.53, 12.03, 41.97, 55.56, 37.69, 28.55, and 75.38 mg kg-1, respectively. The main pollutants in peri-urban vegetable soil were Cd and Hg, and 85.25% and 92.86% of the soil samples had Igeo > 1, respectively. The mean Igeo values of this regions followed the order of northwest > central > south > north > east > southwest > northeast for Cd and northeast > northwest > north > southwest > east > central > south for Hg. The mean Cd, Hg, As, Pb, Cr, Cu, Ni, and Zn concentrations in vegetables were 0.30, 0.26, 0.37, 0.54, 1.17, 6.17, 1.96, and 18.56 mg kg-1, respectively. Approximately 87.01% (Cd), 71.43% (Hg), 20% (As), 65.15% (Pb), 27.08% (Cr) of the vegetable samples exceeded the safety requirement values. The vegetables grown in central, northwest, and northern China accumulated much more heavy metals than those grown in other regions. As the HQ values for adults, 53.25% (Cd), 71.43% (Hg), 84.00% (As), and 58.33% (Cr) of the sampled vegetables were higher than 1. For children, the HQ values were higher than 1 for 66.23% (Cd), 73.81% (Hg), 86.00% (As), and 87.50% (Cr) of the sampled vegetables. The findings of this study demonstrate that the situation of heavy metal pollution in peri-urban vegetable areas across China are not optimistic and residents who consume the vegetables are at high risk of health issues. To ensure soil quality and human health, strategies should be taken to guide vegetable production and remedy soil pollution in peri-urban areas with the rapidly urbanizing China.


Asunto(s)
Arsénico , Mercurio , Metales Pesados , Contaminantes del Suelo , Adulto , Niño , Humanos , Verduras , Suelo , Cadmio , Plomo , Contaminantes del Suelo/análisis , Metales Pesados/análisis , Zinc , Cromo , Níquel , China , Medición de Riesgo , Monitoreo del Ambiente/métodos
9.
Sci Total Environ ; 852: 158467, 2022 Dec 15.
Artículo en Inglés | MEDLINE | ID: mdl-36057305

RESUMEN

Freeze-thaw action has the potential to facilitate the mobilization of colloid-associated contaminants in soil. However, the differences in colloid-associated contaminants following autumn freeze-thaw (AFT) events and spring freeze-thaw (SFT) events remain unclear. In this study, the potential influence mechanisms of AFT and SFT on both the generation and migration of colloids and colloid-associated cadmium (Cd) in soil were explored. Higher aggregate stabilities were found in soils after AFT compared with after SFT. After SFT, lower Cd concentrations were found in soil aggregates of 0.25-0.50 mm and <0.106 mm and higher concentrations were found in 0.106-0.25 mm aggregates. Moreover, SFT generated higher amounts of colloidal Cd than AFT, while AFT increased the total Cd concentration in leachates. Additionally, compared with SFT, AFT led to higher Cd concentrations in dissolved and colloid-associated forms in leachates. These findings demonstrate that higher amounts of colloid and fewer loadings of Cd in colloids in Cd contaminated soil can be found after SFT events. Thus, to better understand the environmental risk of contaminants in areas subject to seasonal freeze-thaw cycles, the differences between freeze-thaw processes in spring and autumn should be considered.


Asunto(s)
Cadmio , Contaminantes del Suelo , Suelo , Congelación , Contaminantes del Suelo/análisis , Coloides
10.
Sci Total Environ ; 834: 155440, 2022 Aug 15.
Artículo en Inglés | MEDLINE | ID: mdl-35469870

RESUMEN

Aging behaviors of metals in the field differ from those in a controlled laboratory environment. Whether aging conditions influence the fates of metals in soil remains unclear. In this study, distributions of cadmium (Cd) and phosphatase activity were compared in soil aggregates (i.e., >2, 1-2, 0.25-1, and <0.25 mm) along a profile (0-5, 5-10, and 10-15 cm) at the end of 500-day aging experiments under both controlled laboratory and field conditions. Cd concentration in the 0-5 cm layer was lower and Cd concentration in the 5-10 cm layer was higher in field-aged soil compared to laboratory-aged soil. 25.26-35.62% of soil Cd was loaded in >2 mm aggregates of field-aged soils, and 58.41-66.95% was in laboratory-aged soils. Higher loadings of Cd in 0.25-1 and <0.25 mm aggregates were found in field-aged soil. A higher proportion of exchangeable Cd fraction (20.93% of total soil Cd) was found in the 0-5 cm layer of field-aged soil than in laboratory-aged soil (17.63%), while the opposite tendency was found in deeper soil layers. Soil phosphatase activities in field-aged soils were 1.13-1.26 times higher than in laboratory-aged soils. Phosphatase loadings in the >2 mm aggregates were lower and loadings in both the 1-2 and 0.25-1 mm aggregates were higher in field-aged soils than in laboratory-aged soils. Furthermore, correlation analysis and principal component analysis indicated that available Cd fractions accounted for most of the variations in phosphatase activities. In summary, the fates of the exogenous metal Cd differed between field and controlled laboratory conditions. To better understand the behaviors of heavy metals in soil, especially in a seasonal freeze-thaw area, further field studies are needed.


Asunto(s)
Metales Pesados , Contaminantes del Suelo , Cadmio/análisis , Metales Pesados/análisis , Monoéster Fosfórico Hidrolasas , Suelo , Contaminantes del Suelo/análisis
11.
Artículo en Inglés | MEDLINE | ID: mdl-35139766

RESUMEN

Human leukocyte antigen (HLA)-B27 confers a key role in ankylosing spondylitis (AS) susceptibility. Endoplasmic reticulum aminopeptidase 1 (ERAP1) polymorphisms are associated with AS susceptibility in common population. In this study we intended to evaluate the possible association between ERAP1 polymorphisms and AS susceptibility in HLA-27 positive population. Data were collected from Pubmed, Embase, and Cochrane databases. The pooled odds ratios and 95% confidence intervals of the minor allele of each locus were calculated to appraise the associations under ERAP1 polymorphisms and AS in HLA-B27 positive population. Bioinformatics analysis was performed to explore the underlying mechanism. Four studies were included in this meta-analysis. There was a significant association between the minor allele of rs2287987 and reducing the risk of developing AS in HLA-B27 positive population. But there was no significant association between the minor allele of rs30187, rs27044, rs10050860 and rs17482078 and AS susceptibility. According to HaploReg, 5 motifs changed for rs2287987 were found. The eQTL analysis demonstrated that rs2287987 may influence ERAP1 expression. Rs2287987 in ERAP1 may have small influence on AS susceptibility in HLA-B27 positive population. Bioinformatics analysis indicated that the altered motifs and the change of EARP1 expression may influence the AS susceptibility.


Asunto(s)
Espondilitis Anquilosante , Aminopeptidasas/genética , Biología Computacional , Predisposición Genética a la Enfermedad , Antígeno HLA-B27/genética , Humanos , Antígenos de Histocompatibilidad Menor/genética , Polimorfismo de Nucleótido Simple , Espondilitis Anquilosante/genética
12.
Ecotoxicol Environ Saf ; 228: 112952, 2021 Nov 01.
Artículo en Inglés | MEDLINE | ID: mdl-34736033

RESUMEN

To date, although there are many studies investigating the toxicity of heavy metal to plant, little research exists in the seasonal freeze-thaw (FT) regions where FT cycles often happen during the plant growing process. To reveal the adaptive mechanisms of plants to the combination stresses of cadmium (Cd) and FT, the Cd accumulation, subcellular distribution, chemical forms, and antioxidant enzyme activity (peroxidase (POD)) were investigated in spinach (Spinacia oleracea L.) growing under different soil Cd levels (i.e., 0.10 mg Cd kg-1 soil (low), 1.21 mg Cd kg-1 soil (medium), and 2.57 mg Cd kg-1 soil (high)). Compared to the non-freeze-thaw (NFT) treatments, higher Cd concentrations in the root and lower translocation factors from root to leaf were found for the plants experiencing FT cycles. FT significantly decreased the Cd concentrations in the leaves under the low- and medium-Cd treatments, while similar values were found for the high-Cd treatments. Generally, FT could decrease the concentrations and proportions of Cd stored in the cell wall and soluble fractions and increase them in the organelle fractions for the medium- and high-Cd treatments, while opposite tendency was found for the low-Cd treatments. Moreover, larger Cd amounts in the inorganic and water-soluble forms were found for the low- and medium-Cd treated plants under FT, while lower values were found for the high-Cd treatments. Additionally, POD, which presented higher activities at the low- and medium-Cd treatments and lower activities at the high-Cd treatments under FT, were also significantly influenced by the Cd × FT interaction. This study indicated that FT could significantly change the accumulations of Cd in plant, and it provided a new insight into the Cd accumulation by plants in the seasonal FT region.

13.
Eur Spine J ; 30(8): 2401-2408, 2021 08.
Artículo en Inglés | MEDLINE | ID: mdl-34101025

RESUMEN

OBJECTIVE: Human leukocyte antigen (HLA)-B27 plays a crucial role in the pathogenesis of AS. TNF polymorphisms have been reported to be associated with AS susceptibility, but the results of these previous studies have been inconsistent. The aim of this study was to explore whether TNF polymorphism is associated with AS susceptibility in HLA-27-positive population. METHODS: Our search was done in the Pubmed, Embase, and Cochrane databases (up to March 2020). The pooled and individual odds ratios (ORs) with 95% confidence intervals (CIs) of the minor allele of each locus were presented to assess the associations between TNF polymorphisms and AS in HLA-B27-positive population. RESULTS: Ten studies from 8 articles were included in this meta-analysis. In the population of HLA-B27-positive patients and random healthy controls, there were statistical significance in the evaluation of association between the minor allele of TNF-238, -308, -857, -1031 and -863 and AS susceptibility, respectively. In the population of HLA-B27-positive patients and HLA-B27-positive healthy controls, there were no statistical differences in the comparison of minor allele of with their respective major allele in the fixed model. CONCLUSIONS: There was no association of the TNF polymorphisms with AS in the HLA-B27-positive AS group and HLA-B27-positive control group. Polymorphisms of TNF-238, -308, -857, -1031, -863 were associated with AS susceptibility in the HLA-B27-positive AS patients and random control population. Other gene SNPs except TNF may play an important role in AS susceptibility in HLA-B27-positive population.


Asunto(s)
Antígeno HLA-B27 , Espondilitis Anquilosante , Alelos , Estudios de Casos y Controles , Frecuencia de los Genes , Predisposición Genética a la Enfermedad/genética , Antígeno HLA-B27/genética , Humanos , Polimorfismo de Nucleótido Simple/genética , Espondilitis Anquilosante/genética
14.
Eur Spine J ; 30(6): 1402-1410, 2021 06.
Artículo en Inglés | MEDLINE | ID: mdl-33877454

RESUMEN

BACKGROUND: Studies investigating the association between the polymorphisms in TNF and ankylosing spondylitis have been reported the conflicting results. Here we performed a meta-analysis based on the evidence available from the literature up-to-date to further clarify this relationship. METHODS: Our systematic search was done in the PubMed, Embase and Cochrane databases (up to March 2020). The pooled and individual odds ratios (ORs) with 95% confidence intervals (CIs) of the minor allele of each locus were presented to assess the associations between TNF polymorphisms and AS in different ethnicities in common population. RESULTS: Seventeen studies, consisting of seven European studies, eight East Asian studies and two Latin-American studies, were included in this meta-analysis. In the total population, the A allele in TNF-238 (OR = 0.702, 95%CI = 0.506-0.973, p = 0.034) and TNF-308 (OR = 0.638, 95%CI = 0.507-0.804, p = 0.000), the C allele in TNF-1031 (OR = 0.594, 95%CI = 0.446-0.791, p = 0.000), the T allele in TNF-850 (OR = 3.462, 95%CI = 1.764-6.798, p = 0.000) and rs769178 (OR = 2.593, 95%CI = 2.175-3.091, p = 0.000) were significantly associated with AS susceptibility. There were no significant association between the minor alleles of TNF-376, TNF-857, TNF-863 and AS susceptibility. There are inconsistent results in the Latin-American population and East Asian population with those in the total population. CONCLUSIONS: Our meta-analysis suggests that TNF-α polymorphisms at positions - 238, - 308, - 850, - 1031 and rs769178 could have an influence on ankylosing spondylitis susceptibility in the total population. But there is no association of the TNF-376, TNF-857, TNF-863 polymorphisms with ankylosing spondylitis. Some results in the subgroups are not consistent with those in the total population.


Asunto(s)
Espondilitis Anquilosante , Alelos , Predisposición Genética a la Enfermedad/genética , Humanos , Polimorfismo de Nucleótido Simple/genética , Espondilitis Anquilosante/genética , Factor de Necrosis Tumoral alfa/genética
15.
Sci Total Environ ; 779: 146442, 2021 Jul 20.
Artículo en Inglés | MEDLINE | ID: mdl-33743456

RESUMEN

To date, most studies about the aging of metals in soil were based on the controlled laboratory experiments, and few works have attempted to investigate how aging process influences the distribution and bioavailability of metals in soil under the field condition. The purpose of this study was to compare the aging of cadmium (Cd) in soils under the controlled laboratory and the field by monitoring time-dependent soil Cd speciation changes, Cd release kinetics, and Cd bioavailability to plant through the 438-day aging experiments. During the aging process, the proportions of Cd associated with the most weakly bound fraction tended to decrease, with corresponding increases in the more stable binding fractions. After aging, a higher concentration of available Cd was found in the field aging soil (0.74 mg kg-1) than the laboratory aging soil (0.65 mg kg-1). The Elovich equation was the best model to describe the soil available Cd aging process. The constant b in the Elovich equation, which was defined as the transformation rate, was in the order of laboratory aging soil > field aging soil. Moreover, higher Cd release amounts were found for the field aging soil (2.74 mg kg-1) than the laboratory aging soil (2.57 mg kg-1) at the end of aging. Additionally, higher body Cd concentrations were found for the vegetables grown in the field aging soils (1.49 mg kg-1, fresh weight) than those grown in the laboratory aging soils (1.32 mg kg-1, fresh weight). Therefore, this study indicated that the metal distribution process and its bioavailability may be overestimated or underestimated if research data from the laboratory experiments are used to derive soil quality criteria or investigate soil metal bioavailability.


Asunto(s)
Cadmio , Contaminantes del Suelo , Disponibilidad Biológica , Cadmio/análisis , Laboratorios , Suelo , Contaminantes del Suelo/análisis
16.
World J Clin Cases ; 8(12): 2530-2541, 2020 Jun 26.
Artículo en Inglés | MEDLINE | ID: mdl-32607330

RESUMEN

BACKGROUND: Previous publications indicated that genetic predisposition might play important roles in the onset of osteonecrosis of the femoral head (ONFH) in systemic lupus erythematosus (SLE). Some gene loci such as complement C3d receptor 2 (CR2), nitric oxide synthase 3 (NOS3), collagen type II alpha 1 chain (COL2A1), protein tyrosine phosphatase non-receptor type 22 (PTPN22), and transient receptor potential cation channel subfamily V member 4 (TRPV4) were reported to be involved in this process. AIM: To investigate whether the risk of ONFH in SLE is associated with single nucleotide variations (SNVs) in these five genes. METHODS: SNVs in the CR2, NOS3, COL2A1, PTPN22, and TRPV4 genes were examined by using FastTarget and Illumina Miseq sequencing technologies in 49 cases of SLE with ONFH. Burrows-wheeler aligner was used to align the sequencing reads to hg19, and GATK and Varscan programs were used to perform SNV calling. PolyPhen-2, SIFT, and MutationTaster were used to assess the functional effects of non-synonymous SNVs. RESULTS: Six of the 49 patients were confirmed to have low frequency SNVs, including one patient with SNVs in NOS3 (exon 6: c.814G>A: p.E272K and exon 7: c.814G>A: p.E272K.), four in COL2A1 (rs41263847: exon 29: c.1913C>T: p.T638I, exon 28: c.1706C>T: p.T569I, and rs371445823: exon 8: c.580G>A: p.A194T, exon 7: c.373G>A: p.A125T), and one in CR2 (rs45573035: exon 2: c.200C>G: p.T67S). CONCLUSION: The onset of ONFH in SLE might be associated with the identified SNVs in NOS3, COL2A1, and CR2.

17.
Rheumatol Int ; 38(3): 481-487, 2018 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-29230494

RESUMEN

The aim of this study is to investigate the association of the polymorphisms in tumor necrosis factor (TNF) and granulin (GRN) with ankylosing spondylitis (AS) in a Chinese Han population. Five single nucleotide polymorphisms (SNPs) covering TNF and six SNPs covering GRN were investigated in 861 Chinese Han AS patients and 864 healthy controls. For rs1799964, the C allele was linked to reduced risk of AS (p < 0.0001, OR = 0.60, 95% CI = 0.50-0.71). The carriers of the C/C homozygote showed a significantly lower risk of AS compared with the TT homozygote and the C/T heterozygote under the recessive model (p < 0.0001, OR = 0.23, 95% CI = 0.12-0.45). For rs1800629, the A allele was also linked to reduced risk of AS (p < 0.0001, OR = 0.54, 95% CI = 0.39-0.74). For rs1800630, the A allele was also linked to reduced risk of AS (p < 0.0001, OR = 0.59, 95% CI = 0.48-0.72). The carriers of the A/A homozygote showed a significantly lower risk of AS compared with the C/C homozygote and the A/C heterozygote under the recessive model (p < 0.0001, OR = 0.18, 95% CI = 0.07-0.47). For rs769178, the T allele was linked to increased risk of AS (p < 0.0001, OR = 2.59, 95% CI = 2.18-3.09). The carriers of the T/T homozygote showed a significantly higher risk of AS compared with the GG homozygote and the G/T heterozygote under the recessive model (p < 0.0001, OR = 3.34, 95 %CI = 1.95-5.72). There was no significant difference between the AS patients and the controls in the genotype or allele frequencies of rs361525. For GRN, there was no significant difference between the AS patients and the controls in the genotype or allele frequencies of rs25646, rs3760365, rs3785817, rs4792939, rs5848, rs850713 (p > 0.05). This study indicates that polymorphisms in TNF are related to AS, but polymorphisms in GRN are not related to AS susceptibility in a Chinese Han population.


Asunto(s)
Péptidos y Proteínas de Señalización Intercelular/genética , Polimorfismo de Nucleótido Simple , Espondilitis Anquilosante/genética , Factor de Necrosis Tumoral alfa/genética , Adulto , Pueblo Asiatico/genética , Estudios de Casos y Controles , Distribución de Chi-Cuadrado , China/epidemiología , Frecuencia de los Genes , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Haplotipos , Heterocigoto , Homocigoto , Humanos , Desequilibrio de Ligamiento , Masculino , Oportunidad Relativa , Fenotipo , Progranulinas , Factores de Riesgo , Espondilitis Anquilosante/diagnóstico , Espondilitis Anquilosante/etnología , Adulto Joven
18.
Clin Lab ; 60(5): 717-27, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-24839813

RESUMEN

BACKGROUND: Killer cell immunoglobulin-like receptors (KIR) contribute to the pathogenesis of multiple auto-immune diseases via the modulation of NK-, NKT- and T-cells. Thus, we want to know whether the expression pattern of KIR is associated with systemic lupus erythematosus (SLE) susceptibility. METHODS: Here, real-time quantitative PCR and fluorescence-activated cell sorting (FACS) were used to measure the stimulatory KIR (sKIR) and inhibitory KIR (iKIR) mRAN and protein levels on NK-, NKT- and T-cells in both SLE patients and healthy controls. RESULTS: In SLE patients, CD158a/h (KIR2DL1/S1) was highly expressed while CD158b/i/j (KIR2DL2/L3/S2, iKIR/iKIR/sKIR) was lowly expressed in NK- and NKT-cells in patients. The expression levels of KIR2DL1 and KIR2DL2 (iKIRs) were decreased while the expression levels of KIR2DS1 (sKIR) were increased in NK- and NKT-cells in the patients. CONCLUSIONS: We found that SLE patients represent aberrant expression of stimulatory and inhibitory KIRs in NK- and NKT-cells. Consequently, these different expression levels of KIRs may contribute to the abnormal function of these cells, which lead to the risk of SLE.


Asunto(s)
Células Asesinas Naturales/metabolismo , Lupus Eritematoso Sistémico/inmunología , Células T Asesinas Naturales/metabolismo , Receptores KIR2DL2/metabolismo , Receptores KIR/metabolismo , Adolescente , Adulto , Estudios de Casos y Controles , Femenino , Predisposición Genética a la Enfermedad , Humanos , Células Asesinas Naturales/patología , Lupus Eritematoso Sistémico/genética , Lupus Eritematoso Sistémico/patología , Masculino , Células T Asesinas Naturales/patología , Receptores KIR/biosíntesis , Receptores KIR/genética , Receptores KIR2DL2/biosíntesis , Receptores KIR2DL2/genética , Medición de Riesgo , Adulto Joven
19.
PLoS One ; 7(4): e31000, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-22485125

RESUMEN

BACKGROUND: T-helper (Th) 22 is involved in the pathogenesis of inflammatory diseases. The roles of Th22 cells in the pathophysiological of ankylosing spondylitis (AS) and rheumatoid arthritis (RA) remain unsettled. So we examined the frequencies of Th22 cells, Th17 cells and Th1 cells in peripheral blood (PB) from patients with AS and patients with RA compared with both healthy controls as well as patients with osteoarthritis. DESIGN AND METHODS: We studied 32 AS patients, 20 RA patients, 10 OA patients and 20 healthy controls. The expression of IL-22, IL-17 and IFN-γ were examined in AS, RA, OA patients and healthy controls by flow cytometry. Plasma IL-22 and IL-17 levels were examined by enzyme-linked immunosorbent assay. RESULTS: Th22 cells, Th17 cells and interleukin-22 were significantly elevated in AS and RA patients compared with OA patients and healthy controls. Moreover, Th22 cells showed positive correlation with Th17 cells as well as interleukin-22 in AS and RA patients. However, positive correlation between IL-22 and Th17 cells was only found in AS patients not in RA patients. In addition, the percentages of both Th22 cells and Th17 cells correlated positively with disease activity only in RA patients not in AS patients. CONCLUSIONS: The frequencies of both Th22 cells and Th17 cells were elevated in PB from patients with AS and patients with RA. These findings suggest that Th22 cells and Th17 cells may be implicated in the pathogenesis of AS and RA, and Th22 cells and Th17 cells may be reasonable cellular targets for therapeutic intervention.


Asunto(s)
Artritis Reumatoide/patología , Espondilitis Anquilosante/patología , Linfocitos T Colaboradores-Inductores/patología , Células Th17/patología , Adulto , Artritis Reumatoide/sangre , Artritis Reumatoide/inmunología , Estudios de Casos y Controles , Células Cultivadas , Femenino , Humanos , Interferón gamma/metabolismo , Interleucina-17/sangre , Interleucinas/sangre , Masculino , Persona de Mediana Edad , Espondilitis Anquilosante/sangre , Espondilitis Anquilosante/inmunología , Linfocitos T Colaboradores-Inductores/metabolismo , Células TH1/metabolismo , Células TH1/patología , Células Th17/metabolismo , Interleucina-22
20.
J Clin Immunol ; 31(4): 606-14, 2011 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-21556937

RESUMEN

BACKGROUND: T-helper (Th) 22 and Th17 cells are implicated in the pathogenesis of autoimmune diseases. The roles of Th22 cells in the pathophysiology of rheumatoid arthritis (RA) remain unsettled. MATERIALS AND METHODS: CD4(+)IFNγ(-)IL17(-)IL-22(+) T cells (Th22 cells), CD4(+)IFNγ(-)IL-22(-)IL17(+) T cells (pure Th17 cells), CD4(+)IL17(+) T cells (Th17 cells), and CD4(+)IFNγ(+) T cells (Th1 cells) in RA, osteoarthritis patients, and healthy controls were examined by flow cytometry. Plasma IL-22 and IL-17 levels were examined by enzyme-linked immunosorbent assay. RESULTS: Th22 cells, pure Th17 cells, Th17 cells, and interleukin-22 were significantly elevated in RA patients compared with osteoarthritis and healthy controls, but there were no significant differences regarding Th1 cells and interleukin-17. Th22 cells showed a positive correlation with interleukin-22 as well as pure Th17 cells or Th17 cells in RA patients. Additionally, the percentages of Th22 cells, pure Th17 cells as well as Th17 cells correlated positively with both C-reactive protein levels and 28-joints disease activity score. CONCLUSION: Together, our results indicated a possible role of Th22 pure Th17 cells and Th17 cells in RA, and blockade of the interleukin-22 may be a reasonable therapeutic strategy for RA.


Asunto(s)
Artritis Reumatoide/inmunología , Interleucinas/sangre , Linfocitos T Colaboradores-Inductores/inmunología , Células Th17/inmunología , Adulto , Anciano , Artritis Reumatoide/sangre , Artritis Reumatoide/patología , Antígenos CD4/sangre , Ensayo de Inmunoadsorción Enzimática , Femenino , Citometría de Flujo , Humanos , Interferón gamma/sangre , Interleucina-17/sangre , Recuento de Linfocitos , Masculino , Persona de Mediana Edad , Osteoartritis/inmunología , Células TH1/inmunología , Interleucina-22
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