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<p><b>BACKGROUND</b>Idiopathic membranous nephropathy (IMN) is an autoimmune disease and the leading cause of adult nephritic syndrome. HLA-DQA1 had been identified to be associated with IMN in Europeans and the result was replicated in Chinese Han population. In this study, six single nucleotide polymorphisms (SNPs) in the promoter of HLA-DQA1 and other two SNPs with IgA nephropathy were included for the association analysis.</p><p><b>METHODS</b>The SNPs were genotyped in 509 patients and 601 controls by the MassArray iPLEX. The quantification of anti-phospholipase A2 receptor (PLA2R) antibodies in sera of IMN patients was performed by anti-PLA2R ELISA (IgG) kit.</p><p><b>RESULTS</b>After analysis, four SNPs were significantly associated with IMN, with rs2187668 and rs28383345 as the top two signals (P = 8.42×10-5 and 2.48×10-5, respectively). Even under dominant model, the two SNPs were still significantly associated with IMN (P = 3.50×10-3 for rs28383345 and P = 6.55×10-5 for rs2187668). After conditional study with rs2187668, rs28383345 was the only variant significantly correlated with IMN after Bonferroni correction (P = 0.016). The minor alleles of the two SNPs were also mutually exclusive in our cohort. This indicated that the two SNPs were independently associated with IMN in Chinese Han population. Levels of anti-PLA2R autoantibodies were correlated with the genotypes of the two SNPs, but not significantly (P>0.05).</p><p><b>CONCLUSIONS</b>Our results revealed that a novel independent variant in the promoter of HLA-DQA1 was associated with IMN in Chinese Han population. The locus possessed regulatory role according to the data of RegulomeDB. The exact role of the SNPs on the expression of HLA-DQA1 needs further investigation.</p>
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<p><b>BACKGROUND</b>Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease with complex genetic inheritance. This study was conducted to examine whether the association of a proliferation-inducing ligand (APRIL), spermatogenesis associated 8 (SPATA8), platelet-derived growth factor receptor-alpha (PDGFRA), and DNA polymerase beta (POLB) with SLE can be replicated in a Chinese Han population.</p><p><b>METHODS</b>Chinese SLE patients (n = 1247) and ethnically and geographically matched healthy controls (n = 1440) were genotyped for the APRIL, SPATA8, PDGFRA, and POLB single-nucleotide polymorphisms (SNPs), rs3803800, rs8023715, rs1364989, and rs12678588 using the Sequenom MassARRAY System.</p><p><b>RESULTS</b>The Chinese Han SLE patients and controls had statistically similar frequencies of alleles and genotypes of four gene polymorphisms. Moreover, no association signal was detected on different genetic models (additive, dominant, and recessive, all, P> 0.05) or in SLE subgroups stratified by various clinical manifestations (all, P> 0.05).</p><p><b>CONCLUSIONS</b>Different genetic backgrounds from different ancestries and various populations may result in different genetic risk factors for SLE. We did not detect any significant association with SNPs of APRIL, SPATA8, PDGFRA, and POLB.</p>
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Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , Alelos , Pueblo Asiatico , ADN Polimerasa II , Genética , Predisposición Genética a la Enfermedad , Genética , Genotipo , Péptidos y Proteínas de Señalización Intracelular , Genética , Lupus Eritematoso Sistémico , Genética , Polimorfismo de Nucleótido Simple , Genética , Receptor alfa de Factor de Crecimiento Derivado de Plaquetas , Genética , Miembro 13 de la Superfamilia de Ligandos de Factores de Necrosis Tumoral , GenéticaRESUMEN
<p><b>OBJECTIVE</b>To compare the three Anti-dsDNA antibody detecting test (IIF, ELISA, Farr) with 200 serum samples to evaluate which one has higher sensitivity and specificity.</p><p><b>METHODS</b>200 serum samples including 120 serum samples of SLE, 20 serum samples of rheumatoid arthritis, 20 serum samples of MCTD, 20 serum samples of SS, 20 serum samples of PSS and 50 serum samples of healthy measured by IIF, Farr and ELISA.</p><p><b>RESULTS</b>Detection the Anti-dsDNA antibody of the serum sample with the methods of IIF, ELISA and Farr. The positive percentage of Anti-dsDNA in SLE is 25%, 32% and 32%, while in RA is 0, 0 and 0; in PSS is 0, 0 and 5%; in SS is 0, 0 and 0; in healthy is 0, 0 and 0.</p><p><b>CONCLUSION</b>Detection the Anti-dsDNA antibody with two method in the same time, especially with IIF and ELISA, will heighten the positive rate than with single method and will be helpful for the diagnosis of SLE.</p>
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Humanos , Anticuerpos Antinucleares , Alergia e Inmunología , Estudios de Casos y Controles , ADN , Alergia e Inmunología , Ensayo de Inmunoadsorción Enzimática , Técnica del Anticuerpo Fluorescente Indirecta , Pruebas Inmunológicas , Métodos , Lupus Eritematoso Sistémico , Diagnóstico , Alergia e Inmunología , RadioinmunoensayoRESUMEN
<p><b>BACKGROUND</b>Matrix metalloproteinase-1 (MMP-1) plays an important role in atherosclerosis. This study was to examine expression of MMP-1 mRNA in peripheral blood mononuclear cells (PBMCs) of patients with systemic lupus erythematosus (SLE), and to explore its relationship with atherosclerosis in SLE.</p><p><b>METHODS</b>Fluorescent quantitative reverse transcription polymerase chain reaction (RT-PCR) was used to examine the expression of MMP-1 mRNA in PBMCs in 80 SLE patients, including 39 prone to atherosclerosis (Group A) and 41 unprone to atherosclerosis (Group B). Meanwhile, 30 patients who were free of cardiovascular diseases and 30 healthy individuals were selected as disease and normal control group (Groups C and D). The changes of MMP-1 gene expression were analyzed by differences of cycle threshold (DeltaCt), with the following formula: DeltaCt = Ct(target) gene - Ct(reference) gene.</p><p><b>RESULTS</b>The expression level of MMP-1 mRNA in Group A was significantly higher than that of group B (DeltaCt = 8.64 +/- 2.43 vs DeltaCt = 12.09 +/- 2.26, t = 6.588, P < 0.01). The expression level of MMP-1 mRNA of SLE patients was significantly higher than that of Group C (DeltaCt = 10.41 +/- 2.90 vs DeltaCt = 12.29 +/- 2.51, t = 3.135, P < 0.01) and Group D (DeltaCt = 10.41 +/- 2.90 vs DeltaCt = 12.48 +/- 1.69, t = 3.675, P < 0.01).</p><p><b>CONCLUSIONS</b>In comparison to disease and control group, expression of MMP-1 mRNA in PBMCs of SLE patients was significantly elevated, and significant difference of MMP-1 mRNA expression was also found between SLE patients prone and unprone to atherosclerosis, indicating that expression of MMP-1 mRNA may be correlated with the pathogenesis and activity of atherosclerosis in SLE.</p>
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Adolescente , Adulto , Anciano , Niño , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , Aterosclerosis , Genética , Leucocitos Mononucleares , Metabolismo , Lupus Eritematoso Sistémico , Genética , Metaloproteinasa 1 de la Matriz , Genética , ARN Mensajero , Genética , Reacción en Cadena de la Polimerasa de Transcriptasa InversaRESUMEN
<p><b>OBJECTIVE</b>To detect the serum specific proteins in tumor-like polypoid lesions of the gallbladder patients and establish diagnostic model.</p><p><b>METHODS</b>Surface enhanced laser desorption/ionization time of flight mass spectrometry (SELDI-TOF-MS) technique and WCX Magnetic Beads were used to detect the serum proteomic patterns of 23 patients with tumor-like PLG, 21 patients with non tumor-like PLG and 26 normal persons. Biomarker Wizard and Biomarker Patterns Software were used in combination to analyze the data.</p><p><b>RESULTS</b>Preliminary screening out 22 representative specific proteins for the diagnosis of the tumor-like PLG. Analysis system under the conditions set selected 3 specific proteins to establish diagnostic model for the tumor-like PLG. The sensitivity and specificity of the model for the diagnosis of the tumor-like PLG were 100% and 89.4%, respectively.</p><p><b>CONCLUSION</b>SELDI-TOF-MS technique can select specific protein of the tumor-like PLG, and establish diagnostic model of the tumor-like PLG.</p>
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Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Biomarcadores de Tumor , Sangre , Proteínas Sanguíneas , Neoplasias de la Vesícula Biliar , Diagnóstico , Pólipos , Diagnóstico , Sensibilidad y Especificidad , Espectrometría de Masa por Láser de Matriz Asistida de Ionización DesorciónRESUMEN
<p><b>OBJECTIVE</b>To detect the serum specific proteins in pancreatic cancer patients and establish diagnostic model by surface enhanced laser desorption/ionization time of flight mass spectrometry (SELDI-TOF-MS) technique.</p><p><b>METHODS</b>Twenty-nine serum samples from patients of pancreatic cancer were collected before surgery and an additional 57 serum samples from age and sex matched individuals without cancer were used as controls, SELDI-TOF-MS technique and WCX magnetic beads were used to detect the protein fingerprint expression of all the serum samples and the resulting profiles between pancreatic cancer patients and controls were analyzed with biomarker wizard system, established the model using biomarker patterns system software. A double-blind test was used to determine the sensitivity and specificity of the classification model.</p><p><b>RESULTS</b>A panel of four biomarkers (relative molecular weight are 5705, 4935, 5318 and 3243 Da) were selected to set up a decision trees as the classification model for screening pancreatic cancer effectively. The result yielded a sensitivity of 100%, specificity of 97.4%. The double-blind test challenged the model with a sensitivity of 88.9% and a specificity of 89.5%.</p><p><b>CONCLUSIONS</b>SELDI-TOF-MS offers a unique platform for the proteomic detection of serum in pancreatic cancer patients. It also offers a noninvasive method to further study the proteomic changes in the development and progression of pancreatic cancer.</p>
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Humanos , Biomarcadores de Tumor , Sangre , Proteínas Sanguíneas , Detección Precoz del Cáncer , Tamizaje Masivo , Neoplasias Pancreáticas , Sangre , Diagnóstico , Proteómica , Sensibilidad y Especificidad , Espectrometría de Masa por Láser de Matriz Asistida de Ionización DesorciónRESUMEN
<p><b>OBJECTIVE</b>To better understand the duplication of hepatitis B virus (HBV) in order to improve clinical diagnoses and treatments via quantitative measurement of HBV-DNA and comparison of correlation of HBV-DNA with HBeAg and anti-HBe.</p><p><b>METHODS</b>For 883 hepatitis B patients with positive HBsAg, HBV-DNA was measured by COBAS AMPLICOR HBV MONITOR reagent and COBAS AMPLICOR quantitative PCR instrument. Microparticle enzyme immunoassay analysis (MEIA) was then carried out with fully automatic enzyme immunoassay analysis instrument made by Abbott Axsym from the U.S. to measure HBeAg and anti-HBe. Correlation was analysed by SPSS.</p><p><b>RESULTS</b>(1)Positive correlation between 690 HBV-DNA positive and HBeAg positive with r= 0. 505 (P< 0.01) was found with mean values as:HBV-DNA:7.12 x 10(12) copies/ml;HBeAg:218.31 S/CO. HBV-DNA:10(4) copies/ml, HBeAg: 104 S/CO; HBV-DNA: 10(5)-10(8) copies/ml, HBeAg: 112 S/CO; HBV-DNA: 10(9)-10(15) copies/ml, HBeAg: 252 S/CO. (2) No correlation was found between 193 HBV-DNA and anti-HBe + with r= -0.052(P= 0.477> 0.05) with Mean: HBV-DNA: 8.0x 10(10) copies/ml anti-HBe: 0.18 S/CO.</p><p><b>CONCLUSION</b>HBV-DNA and HBeAg appeared to have had linear correlation, showing that HBeAg> 100 S/CO,HBV-DNA> 10(4) copies/ml and hepatitis B virus were reproduced. However, HBV-DNA did not show linear correlation with anti-HBe as HBeAg negative and anti-HBe positive, the level of hepatitis B viral replication decrease slightly. But the virus load is still high. Infectivity can not neglect.</p>
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Humanos , Anticuerpos Antivirales , Portador Sano , ADN Viral , Hepatitis B , Diagnóstico , Genética , Alergia e Inmunología , Antígenos e de la Hepatitis B , Virus de la Hepatitis B , Genética , Alergia e Inmunología , Técnicas para Inmunoenzimas , Reacción en Cadena de la Polimerasa , Carga Viral , Replicación ViralRESUMEN
Proteomics is a new field of studying the protein and its dynamic axiom of transmutation in cells.In recent years,it has been used as a powerful tool in research of life science.Proteomics functions as a new method to investigate the pathogenesis of diseases.In this article,the up-to-date information of proteomics technologies in autoimmune disease research are reviewed.
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Objective To investigate the significance of anti-mutated citrullinated vimentin(MCV)an- tibody in rheumatoid arthritis(RA)and study the correlation among anti-CCP,other antoantibodies and clinical manifestations of RA.Methods Anti-MCV antibody was detected by enzyme-linked immunosorbent assay (ELISA)in 166 serum samples including 74 from RA(18 cases with early RA and 56 cases with late RA),50 from non-RA rheumatic diseases and 42 cases of healthy blood donors.At the same time,other antuoantibod- ies were detected by different techniques,and their clinical meaning was investigated with the corresponding clinical data.Results Anti-MCV was found in 78%(58/74)of RA.The sensitivity and specificity of Anti- MCV in RA were 78% and 95%.The positive and negative predictive value was 97% and 71%.The average cut off concentration of Anti-MCV was(552?380)U/ml in RA,(162?63)U/ml in non-RA and(63?46)U/ml in healthy control.Anti-MCV was strongly correlated to anti-CCP(r=0.502,P=0.000),then AKA(r=0.408)anti APF(r=0.369).No differences was found between Anti-MCV and other clinical/laboratory parameters(P>0.05). Conclusion Anti-MCV antibody may be a valuable diagnostic parameter for RA.Anti-MCV is more strongly correlated to anti-CCP than APE and AKA.It may not relate to disease activity and/or severity.
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Objective To investigate the mRNA level of glucose-6-phosphate isomerase(GPI)ex- pression in patients with rheumatoid arthritis(RA).Method Reverse transcription-polymerase chain reaction (RT-PCR)was applied to semiquantitatively analyze GPI mRNA expression in the peripheral blood mononu- clear cells(PBMCs)of 30 active RA patients,30 stable RA patients,30 patients with other rheumatic disease and 30 healthy subjects.Results There was statistically significant differences between patients with RA and other rheumatic diseases(P