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1.
Nucleic Acids Res ; 52(D1): D285-D292, 2024 Jan 05.
Artigo em Inglês | MEDLINE | ID: mdl-37897340

RESUMO

Chromatin accessibility profiles at single cell resolution can reveal cell type-specific regulatory programs, help dissect highly specialized cell functions and trace cell origin and evolution. Accurate cell type assignment is critical for effectively gaining biological and pathological insights, but is difficult in scATAC-seq. Hence, by extensively reviewing the literature, we designed scATAC-Ref (https://bio.liclab.net/scATAC-Ref/), a manually curated scATAC-seq database aimed at providing a comprehensive, high-quality source of chromatin accessibility profiles with known cell labels across broad cell types. Currently, scATAC-Ref comprises 1 694 372 cells with known cell labels, across various biological conditions, >400 cell/tissue types and five species. We used uniform system environment and software parameters to perform comprehensive downstream analysis on these chromatin accessibility profiles with known labels, including gene activity score, TF enrichment score, differential chromatin accessibility regions, pathway/GO term enrichment analysis and co-accessibility interactions. The scATAC-Ref also provided a user-friendly interface to query, browse and visualize cell types of interest, thereby providing a valuable resource for exploring epigenetic regulation in different tissues and cell types.


Assuntos
Sequenciamento de Cromatina por Imunoprecipitação , Cromatina , Bases de Dados Genéticas , Análise de Célula Única , Cromatina/genética , Epigênese Genética , Humanos , Animais
2.
Immunogenetics ; 66(1): 9-13, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24232601

RESUMO

Hypoxia-inducible factor 1 (HIF-1) introduced the immune imbalance between Th17 and Treg cells, which may play an important role in the pathogenesis of systemic lupus erythematosus (SLE). The aim of the present study was to determine whether the HIF1A gene influences the susceptibility to SLE. A study on this relationship has not been conducted to date. A total of 3,793 subjects (1,497 SLE patients and 2,296 controls) were included in this study. The genotyping of five single-nucleotide polymorphisms (SNPs) (rs11549465, rs12434438, rs1957757, rs1951795, rs7143164) was determined by Sequenom MassARRAY technology. The statistical analysis was conducted using chi-square test. Odds ratio (OR) with 95% confidence interval (CI) was calculated using unconditional logistic regression with adjustment of age and sex. The allele frequencies were not associated with the disease. No significant differences in genotype frequencies existed between the patients with SLE and the controls in all five SNPs. It is worth mentioning that the allele T at rs11549465, located at the exon sequence, revealed a trend but no significant difference towards the more frequent allele T in SLE than in controls (C versus T: OR=1.206, 95 % CI=0.972-1.495, p =0.088). The genotype effects of recessive, dominant, and codominant models were observed; however, no significant evidence for association was detected. Our findings suggest that the gene polymorphisms of HIF1A might not contribute to SLE susceptibility in the Chinese population. However, further studies are needed on an independent cohort from different genetic backgrounds to confirm HIF1A as an SLE genetic factor.


Assuntos
Predisposição Genética para Doença , Haplótipos/genética , Subunidade alfa do Fator 1 Induzível por Hipóxia/genética , Lúpus Eritematoso Sistêmico/genética , Polimorfismo de Nucleotídeo Único/genética , Adulto , Alelos , Povo Asiático/genética , Estudos de Casos e Controles , China/epidemiologia , Feminino , Frequência do Gene , Humanos , Lúpus Eritematoso Sistêmico/epidemiologia , Masculino
3.
Acta Pharmacol Sin ; 35(2): 292-300, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24362331

RESUMO

AIM: Monocrotaline (MCT) in plants of the genus Crotalaria induces significant toxicity in multiple organs including the liver, lung and kidney. Metabolic activation of MCT is required for MCT-induced toxicity. In this study, we attempted to determine whether the toxicity of MCT in kidney was a consequence of the metabolic activation of MCT in the liver. METHODS: Liver-specific cytochrome P450 reductase-null (Null) mice, wild-type (WT) mice and CYP3A inhibitor ketoconazole-pretreated WT (KET-WT) mice were examined. The mice were injected with MCT (300, 400, or 500 mg/kg, ip), and hepatotoxicity and nephrotoxicity were examined 24 h after MCT treatment. The levels of MCT and its metabolites in the blood, liver, lung, kidney and bile were determined using LC-MS analysis. RESULTS: Treatment of WT mice with MCT increased the serum levels of alanine aminotransferase, hyaluronic acid, urea nitrogen and creatinine in a dose-dependent manner. Histological examination revealed that MCT (500 mg/kg) caused severe liver injury and moderate kidney injury. In contrast, these pathological abnormalities were absent in Null and KET-WT mice. After injection of MCT (400 and 500 mg/kg), the plasma, liver, kidney and lung of WT mice had significantly lower MCT levels and much higher N-oxide metabolites contents in compared with those of Null and KET-WT mice. Furthermore, WT mice had considerably higher levels of tissue-bound pyrroles and bile GSH-conjugated MCT metabolites compared with Null and KET-WT mice. CONCLUSION: Cytochrome P450s in mouse liver play a major role in the metabolic activation of MCT and thus contribute to MCT-induced renal toxicity.


Assuntos
Sistema Enzimático do Citocromo P-450/metabolismo , Rim/efeitos dos fármacos , Fígado/enzimologia , Fígado/metabolismo , Monocrotalina/farmacologia , NADPH-Ferri-Hemoproteína Redutase/metabolismo , Animais , Rim/metabolismo , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Knockout
4.
Rheumatol Int ; 34(3): 347-56, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24264010

RESUMO

Systemic lupus erythematosus (SLE) is a severe complex rheumatic disease, but good estimate of its prevalence and risk factors is lacking in China. The aim of the study was to explore the prevalence of SLE and risk factors in rural areas of Anhui Province of China. Eleven counties were randomly selected in Anhui Province, and then, 15% of the villages in selected counties were randomly sampled as study sites. Patients with SLE were identified through two phases. Based on the cases identified, a population-based case-control study was designed to examine risk factors associated with SLE. A total of 1,253,832 individuals and identified 471 SLE cases were surveyed. Crude and age-standardized prevalence were estimated at 37.56 and 36.03 per 100,000 persons, respectively. Gender difference in the prevalence of SLE was significant (P = 4.62 × 10(-76)), and the age-standardized prevalence was 6.17 for males and 67.78 for females per 100,000 persons. The distribution of SLE prevalence was significant by age group (P = 1.78 × 10(-53)), and the peak prevalence was observed at 40-50 years. Multiple environmental factors were associated with SLE, including birth conditions, sweet food, cooking oil, taste, fruit consumption, sunlight exposure, quality of sleep, physical activities, drinking water, residence, negative life events, hepatitis B vaccine, age of menarche, and age at birth of first child (P < 0.05). Our large population-based epidemiological survey estimated the prevalence of SLE at 37.56 per 100,000 persons. Multiple environmental factors were associated with the development of SLE.


Assuntos
Lúpus Eritematoso Sistêmico/etnologia , Lúpus Eritematoso Sistêmico/epidemiologia , População Rural/estatística & dados numéricos , Adolescente , Adulto , Fatores Etários , Estudos de Casos e Controles , Criança , Pré-Escolar , China/epidemiologia , Análise por Conglomerados , Meio Ambiente , Feminino , Inquéritos Epidemiológicos , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Prevalência , Fatores de Risco , Adulto Jovem
5.
Clin Immunol ; 147(2): 89-94, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-23578550

RESUMO

Rheumatoid arthritis (RA) is an autoimmune disease, characterized by chronic inflammation in synovial joints. Effective treatment for RA is lacking because the clear etiology and pathogenesis of RA have not been fully elucidated. Cytokine-mediated immunity has been found to play an important role in the pathogenesis of various autoimmune diseases such as RA. Recently, IL-32 is identified with high expression in RA patients and mice models of experimental inflammatory arthritis. IL-32 is recognized to play a crucial role in RA with pro-inflammatory effects. Furthermore, interventions for blocking IL-32 in RA seem possible and applicable. Therefore, targeting IL-32 may give therapeutic potential. In this article, we discuss the biological features of IL-32 and summarize recent advances in understanding the role of IL-32 in disease onset of and treatment for RA. Hopefully the information obtained will benefit for developing novel therapeutic strategies.


Assuntos
Artrite Reumatoide/imunologia , Interleucinas/imunologia , Animais , Humanos
6.
Tumour Biol ; 34(6): 3471-6, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23780896

RESUMO

To investigate the correlation between parathyroid hormone-related protein (PTHrP), erythropoietin (EPO), and vascular endothelial growth factor (VEGF) expression in clear cell renal cell carcinoma (ccRCC). Immunohistochemical studies on PTHrP, EPO and VEGF were performed in 249 patients with ccRCC. Serum calcium level and haematocrit were analyzed. The expression of the factors and clinicopathological parameters were studied statistically for possible correlations. The incidence for hypercalcaemia and polycythaemia were 15.3% and 2.0% respectively. Expression of PTHrP, EPO, and VEGF were respectively related to advanced stage (P < 0.0001 respectively). PTHrP was not related to tumour grade. Expressions of EPO and VEGF were correlated to tumour grade significantly. All factors were expressed higher in hypercalcaemic patients. PTHrP, EPO, and VEGF were positively correlated with each other in non-hypercalcaemic patients yet not in hypercalcaemic ones. PTHrP and EPO are related to VEGF expression and to the progression of ccRCC. This finding offers us new insight on the behaviour of ccRCC and offers possible targets in RCC treatment.


Assuntos
Carcinoma de Células Renais/metabolismo , Eritropoetina/biossíntese , Neoplasias Renais/metabolismo , Proteína Relacionada ao Hormônio Paratireóideo/biossíntese , Fator A de Crescimento do Endotélio Vascular/biossíntese , Cálcio/sangue , Carcinoma de Células Renais/sangue , Carcinoma de Células Renais/patologia , Estudos de Coortes , Progressão da Doença , Feminino , Humanos , Hipercalcemia/sangue , Hipercalcemia/metabolismo , Hipercalcemia/patologia , Imuno-Histoquímica , Neoplasias Renais/sangue , Neoplasias Renais/patologia , Masculino , Gradação de Tumores , Estadiamento de Neoplasias
7.
Mutagenesis ; 28(3): 351-5, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-23435013

RESUMO

The P2X7 receptor is a ligand-gated cationic channel receptor that is actived by ATP and normally expressed by a variety of immune system cells, including macrophages and lymphocytes. Because it leads to release of IL-1ß and cell death by apoptosis or necrosis, it is a potential therapeutic target for a variety of autoimmune inflammatory diseases, such as systemic lupus erythematosus (SLE). The P2X7R gene is highly polymorphic, and many single-nucleotide polymorphisms (SNPs) have been detected. A case-control study was performed to investigate the associations of SNPs in the P2X7R gene (rs1718119, rs2230911 and rs3751143) with susceptibility to SLE in 535 Chinese SLE patients and 532 controls. Results showed that rs1718119 was associated with SLE; in particular carriers of the A allele and AA/AG/(AG+AA) genotypes were at lower risk of the disease [A versus G, P < 0.001, odds ratio (OR) = 0.543, 95% CI: 0.424-0.697; AG versus GG, P = 0.018, OR = 0.659, 95% CI: 0.466-0.931; AA versus GG, P = 0.011, OR = 0.176, 95% CI: 0.046-0.668; AG+AA versus GG, P = 0.004, OR = 0.607, 95% CI: 0.433-0.850], but no significant differences in rs2230911 and rs3751143 were observed between SLE patients and controls. Stratification of cases for the presence of nephritis showed that rs2230911 G allele and CG/(CG+GG) genotypes were at a lower risk of SLE with nephritis (LN) (G versus C, P = 0.011, OR = 0.640, 95% CI: 0.454-0.903; CG versus CC, P = 0.035, OR = 0.645, 95% CI: 0.429-0.970; GG versus CC, P = 0.101, OR = 0.349, 95% CI: 0.099-1.228; CG+GG versus CC, P = 0.015 OR = 0.612, 95% CI: 0.411-0.910), but rs1718119 and rs3751143 were not associated with LN. Analysis of the haplotypes revealed one haplotype (ACA) that appeared to be a significantly 'protective' haplotype (P = 0.009, OR = 0.708, 95% CI: 0.546-0.918) with SLE. The findings suggest that the P2X7R gene might contribute to SLE susceptibility in the Chinese population.


Assuntos
Povo Asiático/genética , Predisposição Genética para Doença , Lúpus Eritematoso Sistêmico/genética , Polimorfismo de Nucleotídeo Único , Receptores Purinérgicos P2X7/genética , Adolescente , Adulto , Idoso , Alelos , Estudos de Casos e Controles , China , Feminino , Frequência do Gene , Haplótipos , Humanos , Nefrite Lúpica/genética , Masculino , Pessoa de Meia-Idade , Adulto Jovem
8.
Inflamm Res ; 62(6): 555-60, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23435933

RESUMO

OBJECTIVE: The purpose of this study was to examine the association of interleukin-1 receptor-associated kinase (IRAK1) polymorphisms (rs3027898, rs1059702) with systemic lupus erythematosus (SLE) in a Chinese Han population. METHODS: A total of 667 SLE patients and 667 healthy controls were collected in this study. The genotyping of polymorphisms (rs3027898, rs1059702) was determined by TaqMan allele discrimination assay on the 7300 real-time polymerase chain reaction system. The statistical analysis was conducted by chi square test or Fisher's exact test. RESULTS: The frequency of C allele for rs3027898 in patients was significantly higher than in controls (C versus A: OR = 1.438, 95 % CI = 1.180-1.753, p < 0.001), and a similar association was shown in rs1059702 (A versus G: OR = 1.383, 95 % CI = 1.143-1.674, p = 0.001). Interestingly, the C allele of rs3027898 was associated with a decreased risk for patients with oral ulcers. However, no significant difference was detected in IRAK1 rs1059702 polymorphism and the clinical manifestations. CONCLUSIONS: Our data demonstrate that the polymorphisms rs3027898 and rs1059702 of IRAK1 gene are associated with SLE in the Chinese Han population.


Assuntos
Quinases Associadas a Receptores de Interleucina-1/genética , Lúpus Eritematoso Sistêmico/genética , Adulto , Povo Asiático/genética , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Adulto Jovem
9.
Inflamm Res ; 62(8): 791-5, 2013 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-23754344

RESUMO

OBJECTIVE: The aim to this study was to investigate the association between the single-nucleotide polymorphisms (SNPs) of interleukin (IL)-23 receptor gene and systemic lupus erythematosus (SLE) in a Chinese population. METHODS: A case-control study was performed to investigate the associations of SNPs in IL-23R gene (rs10889677 and rs1884444) with susceptibility to SLE in 521 Chinese SLE patients and 527 normal controls. The chi-square test and unconditional Logistic regression were used to analysis by SPSS 10.1 software. RESULTS: No significant differences were detected for the distribution of allele and genotype frequencies of these two SNPs between patients and controls as well as SLE patients with nephritis (LN) and those without nephritis. CONCLUSION: The findings suggest that the polymorphisms of IL-23R gene might not contribute to the susceptibility of SLE in the Chinese population.


Assuntos
Povo Asiático/genética , Lúpus Eritematoso Sistêmico/genética , Receptores de Interleucina/genética , Adolescente , Adulto , Idoso , Feminino , Frequência do Gene , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Adulto Jovem
10.
Immunol Invest ; 42(2): 91-105, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23323522

RESUMO

Cytotoxic T lymphocyte associated antigen-4 (CTLA-4) -1722T/C polymorphism has been identified as a susceptibile gene for systemic lupus erythematosus (SLE), but studies are inconsistent. To better assess the association between CTLA-4 -1722T/C polymorphism and SLE, a meta-analysis was performed, including 10 studies, total of 1 387 patients and 1 617 controls. Overall, the CTLA-4 -1722T/C polymorphism was significantly associated with SLE susceptibility (T VS C: OR = 1.17, 95% CI = 0.86-1.60, P = 0.304; T/T VS C/C: OR = 1.92, 95% CI = 1.09-3.39, P = 0.024; T/C VS C/C: OR = 1.50, 95% CI = 0.91-2.49, P = 0.114; T/T VS T/C: OR = 1.29, 95% CI = 0.95-1.75, P = 0.107). When stratified by ethnicity, the CTLA-4 -1722T/C polymorphism was associated with SLE only in Asians (T VS C: OR = 1.47, 95% CI = 1.10-1.96, P = 0.010; T/T VS C/C: OR = 2.09, 95% CI = 1.13-3.85, P = 0.018; T/C VS C/C: OR = 1.53, 95% CI = 0.87-2.69, P = 0.141; T/T VS T/C: OR = 1.42, 95% CI = 0.97-2.09, P = 0.070). In summary, the CTLA-4 -1722T/C polymorphism confers to SLE risk, especially in Asians.


Assuntos
Antígeno CTLA-4/genética , Predisposição Genética para Doença , Lúpus Eritematoso Sistêmico/genética , Polimorfismo Genético , Povo Asiático/genética , Feminino , Genótipo , Humanos , Lúpus Eritematoso Sistêmico/etnologia , Masculino
11.
Mol Biol Rep ; 40(1): 391-9, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23054011

RESUMO

Recently, evidence is emerging that inappropriate regulation of type 17 T helper cells (Th17) plays a fundamental role in the development of many autoimmune diseases including systemic lupus erythematosus (SLE). However, the role of Th17-related cytokines in SLE remains elusive. To further investigate the role and imbalance of Th17-related cytokines in the pathogenesis of SLE. A Quantitative RT-PCR Array (Human Th17 for Autoimmunity & Inflammation PCR Array) analyses were performed to study Th17-related genes expression in peripheral white blood cells of 25 new-onset patients with SLE and 15 healthy subjects. When gene expression for SLE patients was compared to the mean of normal controls, among the 84 target genes related to Th17 pathway, 7 (CXCL1, ICAM1, IL10, IL5, IL8, ISG20, JAK2,) were upregulated and 6 (CD28, CD40LG, S1PR1, IL17RE, IL23R, RORC) downregulated. However, comparisons of mRNA expression of Th17 related cytokines between lupus nephritis (LN) patients and SLE patients without nephritis (SLE non LN) showed no significant difference. In conclusion, SLE patients and normal controls showed different expression of a few genes in Th17 pathway, indicating that the pathway may be involved in the pathogenesis of SLE.


Assuntos
Lúpus Eritematoso Sistêmico/genética , Lúpus Eritematoso Sistêmico/imunologia , Transdução de Sinais , Células Th17/imunologia , Células Th17/metabolismo , Adulto , Autoimunidade/genética , Autoimunidade/imunologia , Estudos de Casos e Controles , Citocinas/genética , Citocinas/imunologia , Feminino , Perfilação da Expressão Gênica , Regulação da Expressão Gênica , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
12.
Rheumatol Int ; 33(8): 1917-21, 2013 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-23546688

RESUMO

Single immunoglobulin IL-1-related receptor (SIGIRR), which is also known as Toll/interleukin-1 receptor 8, is a member of the interleukin-1 receptor (IL-1R) family. Different from other typical IL-1R superfamily members, SIGIRR seems to exert negatively modulates in immune responses. Several previous studies demonstrated that SIGIRR influences chronic inflammatory or autoimmune diseases, such as intestinal inflammation, rheumatoid arthritis and psoriatic arthritis. Recent work has explored the role of SIGIRR in systemic lupus erythematosus (SLE), for example, the role of SIGIRR protects the mice from hydrocarbon oil-induced lupus has been reported. These results indicate that SIGIRR may represent a novel target for the treatment of SLE. In this review, we will discuss the SIGIRR and the therapeutic potential of modulating the pathway in SLE.


Assuntos
Lúpus Eritematoso Sistêmico/tratamento farmacológico , Receptores de Interleucina-1/metabolismo , Transdução de Sinais/fisiologia , Animais , Humanos , Lúpus Eritematoso Sistêmico/imunologia , Lúpus Eritematoso Sistêmico/metabolismo , Camundongos , Receptores de Interleucina-1/imunologia , Transdução de Sinais/imunologia
13.
Dermatol Surg ; 39(3 Pt 1): 381-6, 2013 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-23279036

RESUMO

BACKGROUND: Extramammary Paget's disease (EMPD) of the scrotum is a rare disease that requires surgical excision. A positive margin is related to recurrence and poorer prognosis. We aimed to investigate the expression of Ki67 and periodic acid-Schiff (PAS) in a biopsy sample and to evaluate their predictive value in true margin status. METHODS: Sixty-four patients with noninvasive scrotal EMPD were included. Immunohistochemical staining of Ki67 and PAS was reviewed and compared statistically with the margin status of intraoperative frozen section examination (FSE). RESULTS: Seventeen of 64 patients had a positive margin discovered at the first FSE. Expression of Ki67 was not significantly different between positive and negative margin status (p = .16). Expression of PAS was higher in samples with positive margins (p = .05). The incidence of positive margins was significantly higher in the double-positive group than in the double-negative group (p = .03). CONCLUSION: Positive expression of both factors in a biopsy sample requires wider excision to ensure negative margins.


Assuntos
Biomarcadores Tumorais/análise , Neoplasias dos Genitais Masculinos/cirurgia , Antígeno Ki-67/análise , Doença de Paget Extramamária/cirurgia , Reação do Ácido Periódico de Schiff , Escroto , Idoso , Idoso de 80 Anos ou mais , Secções Congeladas , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade
14.
Ann Diagn Pathol ; 17(3): 259-64, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23276457

RESUMO

Bladder cancer (BCa) remained a major health problem. Med19 was related to tumor growth of BCa. Bone morphogenetic proteins (BMPs) were reported to be critical in bone metastasis of cancer. We therefore investigated the relations between Med19 and BMPs in BCa and their effect on bone metastasis of BCa. Bladder cancer cell lines were cultured and interfered with Med19 shRNA and control. Expressions of BMP-1, BMP-2, BMP-4, BMP-5, BMP-6, BMP-7, BMP-9, and BMP-15 were studied between 2 groups. Fifty-two BCa samples were included for immunohistochemical staining of Med19 and BMP-2. Expressions were scored and studied statistically. Invasiveness was studied with Transwell assay. Silencing or Med19 in BCa cells induced altered expressions of BMPs. Increased expressions of BMP-1, BMP-4, BMP-6, BMP-7, and BMP-15 and decreased expressions of BMP-2, BMP-5, and BMP-9 were noticed, but only BMP-2 reached statistical significance. Expressions of Med19 and BMP-2 were significantly higher in cases with bone metastasis and were positively correlated in cases with bone metastasis and muscle invasion. Med19 is a critical factor involved in the invasiveness and promotion of bone metastasis of BCa, possibly via BMP-2.


Assuntos
Proteína Morfogenética Óssea 2/genética , Neoplasias Ósseas/secundário , Carcinoma de Células de Transição/secundário , Complexo Mediador/genética , Neoplasias da Bexiga Urinária/patologia , Biomarcadores Tumorais/metabolismo , Proteína Morfogenética Óssea 2/análise , Proteína Morfogenética Óssea 2/metabolismo , Neoplasias Ósseas/genética , Neoplasias Ósseas/metabolismo , Carcinoma de Células de Transição/genética , Carcinoma de Células de Transição/metabolismo , Linhagem Celular Tumoral , Feminino , Humanos , Masculino , Complexo Mediador/metabolismo , Invasividade Neoplásica , Interferência de RNA , RNA Interferente Pequeno/genética , Transfecção , Neoplasias da Bexiga Urinária/genética , Neoplasias da Bexiga Urinária/metabolismo , Urotélio/metabolismo , Urotélio/patologia
15.
Mod Rheumatol ; 23(4): 686-93, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22850862

RESUMO

INTRODUCTION: To more precisely estimate the association between the tumor necrosis factor ligand superfamily member 4 (TNFSF4) gene polymorphisms and systemic lupus erythematosus (SLE) risk, we surveyed studies on the association of the TNFSF4 rs2205960, rs1234315, rs844644, and rs844648 polymorphisms with SLE. METHODS: A literature-based search was conducted to identify all relevant studies. A total of eight independent studies were identified and subsequently reviewed in the meta-analysis. RESULTS: The meta-analysis showed an association between the TNFSF4 rs2205960 polymorphism and SLE in all subjects [ odds ratio (OR) 1.327, 95% confidence interval (CI) 1.227-1.436, P < 0.001]. In a subgroup analysis by ethnicity, a significantly increased risk for SLE was associated with TNFSF4 rs2205960 T allele among patients of European (OR 1.254, 95% CI 1.185-1.328, P < 0.001) and Asian ethnicity (OR 1.425, 95% CI 1.352-1.501, P < 0.001). The meta-analysis of the rs1234315 polymorphism revealed no association between SLE and the rs1234315 T allele in all subjects (OR 1.167, 95% CI 0.874-1.558, P = 0.296), but the results of the subgroup analysis revealed significant association in subjects of Asian ethnicity (OR 1.386, 95% CI 1.318-1.458, P < 0.001). No association was found between the rs844644 and rs844648 polymorphisms and SLE. CONCLUSION: The results of our meta-analysis suggest that the TNFSF4 rs2205960 polymorphism may confer susceptibility to SLE in different populations and that the TNFSF4 rs1234315 polymorphism is associated with susceptibility to SLE in Asians.


Assuntos
Predisposição Genética para Doença , Lúpus Eritematoso Sistêmico/genética , Ligante OX40/genética , Polimorfismo Genético , Alelos , Povo Asiático/genética , Genótipo , Humanos , População Branca/genética
16.
Huan Jing Ke Xue ; 44(9): 5080-5091, 2023 Sep 08.
Artigo em Zh | MEDLINE | ID: mdl-37699826

RESUMO

The aim of this study was to clarify the response characteristics of Chinese cabbage pakchoi (Brassica chinensis L.) under two particle size (100 nm and 1000 nm) polystyrene microplastic (PS-MPs) stress conditions. This study can provide a theoretical basis and experimental reference for the interpretation of the physiological and ecological mechanism of microplastic pollution and the bioremediation of microplastic-contaminated soil. Hydroponic experiments were carried out to study the effects of two particle sizes (100 nm and 1000 nm) of PS-MPs on growth, photosynthetic physiology, antioxidant enzyme activities, nutritional quality, anatomical structure, and canopy temperature in Chinese cabbage pakchoi. The results showed that PS-MPs stress significantly inhibited the growth and development of Chinese cabbage pakchoi. When PS-MPs stress was increased, the phenotypic indicators were significantly reduced. Meanwhile, PS-MPs stress significantly enhanced the oxidative stress response of Chinese cabbage pakchoi, such as the activities of catalase (CAT), peroxidase (POD), superoxide dismutase (SOD), and ascorbate peroxidase (APX) and the content of malondialdehyde (MDA) in leaves. Such a change tended to decrease the thickness of fenestrated and leaf and spongy tissues. Moreover, PS-MPs stress significantly increased the canopy population temperature of the Chinese cabbage pakchoi leaves. Microplastic stress had obvious inhibitory effects and toxic damage on the growth, development, and physical and chemical properties of Chinese cabbage pakchoi.


Assuntos
Brassica , Microplásticos , Plásticos , Poliestirenos/toxicidade , Temperatura
17.
Immunogenetics ; 64(12): 935-8, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22983539

RESUMO

The aim of this study was to evaluate whether two single-nucleotide polymorphisms (SNPs), AF4/FMR2 family, member 1 (AFF1) rs340630 and AF4/FMR2 family, member 3 (AFF3) rs10865035, show significant evidence for association with systemic lupus erythematosus (SLE) in a Chinese population. A total of 868 Chinese patients with SLE and 975 geographically and ethnically matched healthy control subjects were enrolled in the current study. The genotypes of these two SNPs were determined by Sequenom MassArray technology. Significant evidence for association of AFF3 rs10865035 with SLE was detected (for A versus G, P = 4.81 × 10(-4), odds ratio (OR) 1.26, 95% confidence interval (95% CI) 1.11-1.44). However, no association between AFF1 rs340630 and SLE was found in the Chinese population (for A versus G, P = 0.79, OR 0.98, 95% CI 0.86-1.12). No significant evidence for association of AFF3 rs10865035 polymorphism with any clinical features was detected. By targeting a variant with convincing evidence for association with rheumatoid arthritis, significant association of AFF3 rs10865035 with SLE was detected in the Chinese population, indicating that AFF3 might be a common autoimmunity gene. Further case-control studies based on larger sample sizes in diverse ethnic populations are required to clarify the role of AFF1 rs340630 in SLE.


Assuntos
Povo Asiático/genética , Proteínas de Ligação a DNA/genética , Lúpus Eritematoso Sistêmico/genética , Proteínas Nucleares/genética , Polimorfismo Genético , Adulto , Artrite Reumatoide/genética , Sequência de Bases , Estudos de Casos e Controles , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNA , Fatores de Elongação da Transcrição , Adulto Jovem
18.
Mutagenesis ; 27(3): 319-22, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22075569

RESUMO

The aim of this study was to investigate the association of receptor interacting protein 2 (RIP2) single-nucleotide polymorphisms (SNPs) with susceptibility to systemic lupus erythematosus (SLE) in a Chinese population. A case-control study was performed on the SNPs rs16900617 and rs16900627 in 590 Chinese SLE patients and 660 healthy controls. These SNPs were typed by TaqMan allele discrimination assays. We found a significant association of rs16900617 G allele [odds ratio (OR) = 0.54, 95% confidence interval (CI) 0.41-0.72] and rs16900627 G allele (OR = 1.28, 95% CI 1.04-1.58) with SLE. Significant differences in genotype frequency distribution were also found in SLE and control individuals (rs16900617: AG versus AA, OR = 0.59, 95% CI 0.44-0.81; GG versus AA, OR = 0.08, 95% CI 0.01-0.65; AG + GG versus AA, OR = 0.55, 95% CI 0.41-0.75; rs16900627: AG versus AA, OR = 1.51, 95% CI 1.17-1.93; AG + GG versus AA, OR = 1.43, 95% CI 1.13-1.82). Analysis of the haplotypes revealed that two haplotypes of AG and GA were also significantly associated with SLE (OR = 1.37, 95% CI 1.11-1.70; OR = 0.60, 95% CI 0.45-0.79). Our findings suggest that the RIP2 gene polymorphisms may be associated with susceptibility to SLE in the Chinese population.


Assuntos
Lúpus Eritematoso Sistêmico/genética , Polimorfismo de Nucleotídeo Único , Proteína Serina-Treonina Quinase 2 de Interação com Receptor/genética , Adolescente , Adulto , Povo Asiático , Estudos de Casos e Controles , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Haplótipos , Humanos , Desequilíbrio de Ligação , Masculino , Pessoa de Meia-Idade , Análise de Sequência de DNA , Adulto Jovem
19.
Mol Biol Rep ; 39(9): 8987-94, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22718508

RESUMO

The interleukin 23 receptor (IL-23R) polymorphisms have been already discussed in rheumatoid arthritis (RA) repeatedly, but the results are conflict. The purpose of this meta-analysis was to assess whether IL-23R gene polymorphisms are associated with RA. We retrieved the available data from Pubmed, Medline, CNKI and CBM. Our study evaluated the effects of two polymorphisms (rs10489629, rs7517847) in European population. Pooling all the subjects, we found significant associations between the two polymorphisms and RA. For rs10489629, the pooled ORs (95 % CI) of C versus T, C/C+C/T versus T/T and C/C versus C/T+T/T were 1.092 (1.038-1.149), 1.146 (1.059-1.240) and 1.099 (1.008-1.199), respectively. For rs7517847, the combined ORs (95 % CI) of G versus T, G/G+G/T versus T/T and G/G versus G/T+T/T were 1.121 (1.063-1.183), 1.184 (1.092-1.283) and 1.133 (1.030-1.246), respectively. In conclusion, this meta-analysis demonstrates that the polymorphisms rs10489629 and rs7517847 of the IL-23R gene may be considered as risk factors for developing RA in European population.


Assuntos
Artrite Reumatoide/genética , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único , Receptores de Interleucina/genética , População Branca/genética , Alelos , Estudos de Casos e Controles , Frequência do Gene , Genótipo , Humanos , Razão de Chances , Viés de Publicação
20.
Rheumatol Int ; 32(5): 1231-3, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-21258798

RESUMO

The aim of this study was to investigate the serum RANTES (regulated on activation, normal T-cell expressed and secreted) level in patients with systemic lupus erythematosus (SLE), and the associations with disease activity and clinical laboratory indexes. Twenty-seven SLE patients and 27 normal controls were enrolled in this study. Serum RANTES was measured by enzyme-linked immunosorbent assay (ELISA). The clinical and laboratory parameters of the patients were also recorded. Results showed that serum RANTES level was significantly elevated in SLE patients when compared with normal controls. Serum RANTES level was correlated with C3, ANA, anti-dsDNA antibodies, anti-Sm antibodies, and anti-SSB antibodies. Nevertheless, no association of serum RANTES level with SLEDAI was found. Taken together, serum RANTES level was significantly higher in SLE patients, suggesting that RANTES might be involved in the pathogenesis of SLE.


Assuntos
Quimiocina CCL5/sangue , Lúpus Eritematoso Sistêmico/imunologia , Adulto , Anticorpos Antinucleares/sangue , Biomarcadores/sangue , Estudos de Casos e Controles , China , Complemento C3/análise , Complemento C4/análise , Ensaio de Imunoadsorção Enzimática , Feminino , Humanos , Imunoglobulina A/sangue , Imunoglobulina G/sangue , Lúpus Eritematoso Sistêmico/sangue , Lúpus Eritematoso Sistêmico/diagnóstico , Masculino , Valor Preditivo dos Testes , Índice de Gravidade de Doença , Regulação para Cima
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