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  1 / 12329 MEDLINE  
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[PMID]:29438392
[Au] Autor:Goodin DS; Khankhanian P; Gourraud PA; Vince N
[Ad] Endereço:Department of Neurology, University of California, San Francisco, CA, United States of America.
[Ti] Título:Highly conserved extended haplotypes of the major histocompatibility complex and their relationship to multiple sclerosis susceptibility.
[So] Source:PLoS One;13(2):e0190043, 2018.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To determine the relationship between highly-conserved extended-haplotypes (CEHs) in the major histocompatibility complex (MHC) and MS-susceptibility. BACKGROUND: Among the ~200 MS-susceptibility regions, which are known from genome-wide analyses of single nucleotide polymorphisms (SNPs), the MHC accounts for roughly a third of the currently explained variance and the strongest MS-associations are for certain Class II alleles (e.g., HLA-DRB1*15:01; HLA-DRB1*03:01; and HLA-DRB1*13:03), which frequently reside on CEHs within the MHC. DESIGN/METHODS: Autosomal SNPs (441,547) from 11,376 MS cases and 18,872 controls in the WTCCC dataset were phased. The most significant MS associated SNP haplotype was composed of 11 SNPs in the MHC Class II region surrounding the HLA-DRB1 gene. We also phased alleles at the HLA-A, HLA-C, HLA-B, HLA-DRB1, and HLA-DQB1 loci. This data was used to probe the relationship between CEHs and MS susceptibility. RESULTS: We phased a total of 59,884 extended haplotypes (HLA-A, HLA-C, HLA-B, HLA-DRB1, HLA-DQB1 and SNP haplotypes) from 29,942 individuals. Of these, 10,078 unique extended haplotypes were identified. The 10 most common CEHs accounted for 22% (13,302) of the total. By contrast, the 8,446 least common extended haplotypes also accounted for approximately 20% (12,298) of the total. This extreme frequency-disparity among extended haplotypes necessarily complicates interpretation of reported disease-associations with specific HLA alleles. In particular, the HLA motif HLA-DRB1*15:01~HLA-DQB1*06:02 is strongly associated with MS risk. Nevertheless, although this motif is almost always found on the a1 SNP haplotype, it can rarely be found on others (e.g., a27 and a36), and, in these cases, it seems to have no apparent disease-association (OR = 0.7; CI = 0.3-1.3 and OR = 0.7; CI = 0.2-2.2, respectively). Furthermore, single copy carriers of the a1 SNP-haplotype without this HLA motif still have an increased disease risk (OR = 2.2; CI = 1.2-3.8). In addition, even among the set of CEHs, which carry the Class II motif of HLA-DRB1*15:01~HLA-DQB1*06:02~a1, different CEHs have differing strengths in their MS-associations. CONCLUSIONS: The MHC in diverse human populations consists, primarily, of a very small collection of very highly-selected CEHs. Our findings suggest that the MS-association with the HLA-DRB1*15:01~HLA-DQB1*06:02 haplotype may be due primarily to the combined attributes of the CEHs on which this particular HLA-motif often resides.
[Mh] Termos MeSH primário: Predisposição Genética para Doença
Haplótipos
Complexo Principal de Histocompatibilidade/genética
Esclerose Múltipla/genética
[Mh] Termos MeSH secundário: Seres Humanos
Polimorfismo de Nucleotídeo Único
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180309
[Lr] Data última revisão:
180309
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180214
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0190043


  2 / 12329 MEDLINE  
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[PMID]:29385169
[Au] Autor:Bissa M; Forlani G; Zanotto C; Tosi G; De Giuli Morghen C; Accolla RS; Radaelli A
[Ad] Endereço:Department of Pharmacological and Biomolecular Sciences, University of Milan, via Balzaretti 9, Milan, Italy.
[Ti] Título:Fowlpoxvirus recombinants coding for the CIITA gene increase the expression of endogenous MHC-II and Fowlpox Gag/Pro and Env SIV transgenes.
[So] Source:PLoS One;13(1):e0190869, 2018.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:A complete eradication of an HIV infection has never been achieved by vaccination and the search for new immunogens that can induce long-lasting protective responses is ongoing. Avipoxvirus recombinants are host-restricted for replication to avian species and they do not have the undesired side effects induced by vaccinia recombinants. In particular, Fowlpox (FP) recombinants can express transgenes over long periods and can induce protective immunity in mammals, mainly due to CD4-dependent CD8+ T cells. In this context, the class II transactivator (CIITA) has a pivotal role in triggering the adaptive immune response through induction of the expression of class-II major histocompatibility complex molecule (MHC-II), that can present antigens to CD4+ T helper cells. Here, we report on construction of novel FPgp and FPenv recombinants that express the highly immunogenic SIV Gag-pro and Env structural antigens. Several FP-based recombinants, with single or dual genes, were also developed that express CIITA, driven from H6 or SP promoters. These recombinants were used to infect CEF and Vero cells in vitro and determine transgene expression, which was evaluated by real-time PCR and Western blotting. Subcellular localisation of the different proteins was evaluated by confocal microscopy, whereas HLA-DR or MHC-II expression was measured by flow cytometry. Fowlpox recombinants were also used to infect syngeneic T/SA tumour cells, then injected into Balb/c mice to elicit MHC-II immune response and define the presentation of the SIV transgene products in the presence or absence of FPCIITA. Antibodies to Env were measured by ELISA. Our data show that the H6 promoter was more efficient than SP to drive CIITA expression and that CIITA can enhance the levels of the gag/pro and env gene products only when infection is performed by FP single recombinants. Also, CIITA expression is higher when carried by FP single recombinants than when combined with FPgp or FPenv constructs and can induce HLA-DR cell surface expression. However, in-vivo experiments did not show any significant increase in the humoral response. As CIITA already proved to elicit immunogenicity by improving antigen presentation, further in-vivo experiments should be performed to increase the immune responses. The use of prime/boost immunisation protocols and the oral administration route of the recombinants may enhance the immunogenicity of Env peptides presented by MHC-II and provide CD4+ T-cell stimulation.
[Mh] Termos MeSH primário: Genes Virais
Complexo Principal de Histocompatibilidade/genética
Proteínas Nucleares/genética
Poxviridae/genética
Recombinação Genética
Vírus da Imunodeficiência Símia/genética
Transativadores/genética
Transgenes
[Mh] Termos MeSH secundário: Vacinas contra a AIDS/genética
Vacinas contra a AIDS/imunologia
Animais
Western Blotting
Linfócitos T CD4-Positivos/imunologia
Linfócitos T CD8-Positivos/imunologia
Linhagem Celular
Embrião de Galinha
Ensaio de Imunoadsorção Enzimática
Infecções por HIV/imunologia
Infecções por HIV/prevenção & controle
Seres Humanos
Camundongos
Camundongos Endogâmicos BALB C
Microscopia Confocal
Regiões Promotoras Genéticas
Reação em Cadeia da Polimerase em Tempo Real
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (AIDS Vaccines); 0 (MHC class II transactivator protein); 0 (Nuclear Proteins); 0 (Trans-Activators)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180221
[Lr] Data última revisão:
180221
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180201
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0190869


  3 / 12329 MEDLINE  
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[PMID]:28746312
[Au] Autor:Maretty L; Jensen JM; Petersen B; Sibbesen JA; Liu S; Villesen P; Skov L; Belling K; Theil Have C; Izarzugaza JMG; Grosjean M; Bork-Jensen J; Grove J; Als TD; Huang S; Chang Y; Xu R; Ye W; Rao J; Guo X; Sun J; Cao H; Ye C; van Beusekom J; Espeseth T; Flindt E; Friborg RM; Halager AE; Le Hellard S; Hultman CM; Lescai F; Li S; Lund O; Løngren P; Mailund T; Matey-Hernandez ML; Mors O; Pedersen CNS; Sicheritz-Pontén T; Sullivan P; Syed A; Westergaard D; Yadav R; Li N; Xu X; Hansen T; Krogh A; Bolund L; Sørensen TIA; Pedersen O
[Ad] Endereço:Bioinformatics Centre, Department of Biology, University of Copenhagen, 2200 Copenhagen, Denmark.
[Ti] Título:Sequencing and de novo assembly of 150 genomes from Denmark as a population reference.
[So] Source:Nature;548(7665):87-91, 2017 08 03.
[Is] ISSN:1476-4687
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Hundreds of thousands of human genomes are now being sequenced to characterize genetic variation and use this information to augment association mapping studies of complex disorders and other phenotypic traits. Genetic variation is identified mainly by mapping short reads to the reference genome or by performing local assembly. However, these approaches are biased against discovery of structural variants and variation in the more complex parts of the genome. Hence, large-scale de novo assembly is needed. Here we show that it is possible to construct excellent de novo assemblies from high-coverage sequencing with mate-pair libraries extending up to 20 kilobases. We report de novo assemblies of 150 individuals (50 trios) from the GenomeDenmark project. The quality of these assemblies is similar to those obtained using the more expensive long-read technology. We use the assemblies to identify a rich set of structural variants including many novel insertions and demonstrate how this variant catalogue enables further deciphering of known association mapping signals. We leverage the assemblies to provide 100 completely resolved major histocompatibility complex haplotypes and to resolve major parts of the Y chromosome. Our study provides a regional reference genome that we expect will improve the power of future association mapping studies and hence pave the way for precision medicine initiatives, which now are being launched in many countries including Denmark.
[Mh] Termos MeSH primário: Variação Genética/genética
Genética Populacional/normas
Genoma Humano/genética
Genômica/normas
Análise de Sequência de DNA/normas
[Mh] Termos MeSH secundário: Adulto
Alelos
Criança
Cromossomos Humanos Y/genética
Dinamarca
Feminino
Haplótipos/genética
Seres Humanos
Complexo Principal de Histocompatibilidade/genética
Masculino
Idade Materna
Taxa de Mutação
Idade Paterna
Mutação Puntual/genética
Padrões de Referência
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1712
[Cu] Atualização por classe:180213
[Lr] Data última revisão:
180213
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170727
[St] Status:MEDLINE
[do] DOI:10.1038/nature23264


  4 / 12329 MEDLINE  
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[PMID]:29368839
[Au] Autor:Shilov ES; Kuprash DV
[Ti] Título:[Genetic mechanisms of adaptive immunity emergence in vertebrates].
[So] Source:Genetika;52(7):761-73, 2016 Jul.
[Is] ISSN:0016-6758
[Cp] País de publicação:Russia (Federation)
[La] Idioma:rus
[Ab] Resumo:The adaptive immune system in vertebrates emerged in a multistep process that can be reconstructed on the basis of the data concerning the structure of immune systems of modern cartilaginous and bony fishes, as well as of cyclostomes. The most probable evolutionary scenario is likely to be as follows: the T cell receptor loci emerged on the basis of NK cell-like receptor genes; the antibody loci evolved on the basis of T cell receptor loci; the MHC locus arose on the basis of the locus responsible for innate immunity of early chordates. The ancestral MHC molecules likely participated in the transplantation immunity before they acquired the ability of antigen peptide presentation.
[Mh] Termos MeSH primário: Imunidade Adaptativa/genética
Anticorpos/genética
Apresentação do Antígeno/genética
Complexo Principal de Histocompatibilidade
Receptores de Antígenos de Linfócitos T/genética
Imunologia de Transplantes/genética
[Mh] Termos MeSH secundário: Animais
Anticorpos/imunologia
Loci Gênicos/imunologia
Seres Humanos
Receptores de Antígenos de Linfócitos T/imunologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Antibodies); 0 (Receptors, Antigen, T-Cell)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180205
[Lr] Data última revisão:
180205
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180126
[St] Status:MEDLINE


  5 / 12329 MEDLINE  
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[PMID]:28902875
[Au] Autor:Meng Z; Klinngam W; Edman MC; Hamm-Alvarez SF
[Ad] Endereço:Department of Pharmacology and Pharmaceutical Sciences, School of Pharmacy, University of Southern California, Los Angeles, California, United States of America.
[Ti] Título:Interferon-γ treatment in vitro elicits some of the changes in cathepsin S and antigen presentation characteristic of lacrimal glands and corneas from the NOD mouse model of Sjögren's Syndrome.
[So] Source:PLoS One;12(9):e0184781, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Inflammation and impaired secretion by lacrimal and salivary glands are hallmarks of the autoimmune disease, Sjögren's Syndrome. These changes in the lacrimal gland promote dryness and inflammation of the ocular surface, causing pain, irritation and corneal damage. The changes that initiate and sustain autoimmune inflammation in the lacrimal gland are not well-established. Here we demonstrate that interferon-γ (IFN-γ) is significantly elevated in lacrimal gland and tears of the male NOD mouse, a model of autoimmune dacryoadenitis which exhibits many ocular characteristics of Sjögren's Syndrome, by 12 weeks of age early in lacrimal gland inflammation. Working either with primary cultured lacrimal gland acinar cells from BALB/c mice and/or rabbits, in vitro IFN-γ treatment for 48 hr decreased expression of Rab3D concurrent with increased expression of cathepsin S. Although total cellular cathepsin S activity was not commensurately increased, IFN-γ treated lacrimal gland acinar cells showed a significant increase in carbachol-stimulated secretion of cathepsin S similar to the lacrimal gland in disease. In vitro IFN-γ treatment did not increase the expression of most components of major histocompatibility complex (MHC) class II-mediated antigen presentation although antigen presentation was slightly but significantly stimulated in primary cultured lacrimal gland acinar cells. However, exposure of cultured human corneal epithelial cells to IFN-γ more robustly increased expression and activity of cathepsin S in parallel with increased expression and function of MHC class II-mediated antigen presentation. We propose that early elevations in IFN-γ contribute to specific features of ocular disease pathology in Sjögren's Syndrome.
[Mh] Termos MeSH primário: Apresentação do Antígeno/efeitos dos fármacos
Catepsinas/metabolismo
Córnea/efeitos dos fármacos
Interferon gama/farmacologia
Aparelho Lacrimal/efeitos dos fármacos
[Mh] Termos MeSH secundário: Animais
Células Cultivadas
Córnea/metabolismo
Córnea/patologia
Antígenos de Histocompatibilidade/metabolismo
Antígenos de Histocompatibilidade/fisiologia
Seres Humanos
Interferon gama/metabolismo
Interferon gama/fisiologia
Aparelho Lacrimal/metabolismo
Aparelho Lacrimal/patologia
Complexo Principal de Histocompatibilidade/imunologia
Masculino
Camundongos
Camundongos Endogâmicos BALB C
Camundongos Endogâmicos NOD
Coelhos
Síndrome de Sjogren/imunologia
Síndrome de Sjogren/metabolismo
Síndrome de Sjogren/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Histocompatibility Antigens); 82115-62-6 (Interferon-gamma); EC 3.4.- (Cathepsins); EC 3.4.22.27 (cathepsin S)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171024
[Lr] Data última revisão:
171024
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170914
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0184781


  6 / 12329 MEDLINE  
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[PMID]:28847868
[Au] Autor:Gerner MY; Casey KA; Kastenmuller W; Germain RN
[Ad] Endereço:Department of Immunology, University of Washington, Seattle, WA gernermy@uw.edu.
[Ti] Título:Dendritic cell and antigen dispersal landscapes regulate T cell immunity.
[So] Source:J Exp Med;214(10):3105-3122, 2017 Oct 02.
[Is] ISSN:1540-9538
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Dendritic cell (DC) subsets with biased capacity for CD4 and CD8 T cell activation are asymmetrically distributed in lymph nodes (LNs), but how this affects adaptive responses has not been extensively studied. Here we used quantitative imaging to examine the relationships among antigen dispersal, DC positioning, and T cell activation after protein immunization. Antigens rapidly drained into LNs and formed gradients extending from the lymphatic sinuses, with reduced abundance in the deep LN paracortex. Differential localization of DCs specialized for major histocompatibility complex I (MHC I) and MHC II presentation resulted in preferential activation of CD8 and CD4 T cells within distinct LN regions. Because MHC I-specialized DCs are positioned in regions with limited antigen delivery, modest reductions in antigen dose led to a substantially greater decline in CD8 compared with CD4 T cell activation, expansion, and clonal diversity. Thus, the collective action of antigen dispersal and DC positioning regulates the extent and quality of T cell immunity, with important implications for vaccine design.
[Mh] Termos MeSH primário: Células Dendríticas/fisiologia
Linfócitos T/imunologia
[Mh] Termos MeSH secundário: Animais
Antígenos/imunologia
Linfócitos T CD4-Positivos/imunologia
Linfócitos T CD4-Positivos/fisiologia
Linfócitos T CD8-Positivos/imunologia
Linfócitos T CD8-Positivos/fisiologia
Células Dendríticas/imunologia
Relação Dose-Resposta Imunológica
Feminino
Imunidade Celular
Ativação Linfocitária
Complexo Principal de Histocompatibilidade/imunologia
Complexo Principal de Histocompatibilidade/fisiologia
Masculino
Camundongos
Camundongos Transgênicos
Linfócitos T/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; VIDEO-AUDIO MEDIA
[Nm] Nome de substância:
0 (Antigens)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171024
[Lr] Data última revisão:
171024
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170830
[St] Status:MEDLINE
[do] DOI:10.1084/jem.20170335


  7 / 12329 MEDLINE  
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[PMID]:28821532
[Au] Autor:Bowes J; Ashcroft J; Dand N; Jalali-Najafabadi F; Bellou E; Ho P; Marzo-Ortega H; Helliwell PS; Feletar M; Ryan AW; Kane DJ; Korendowych E; Simpson MA; Packham J; McManus R; Brown MA; Smith CH; Barker JN; McHugh N; FitzGerald O; Warren RB; Barton A
[Ad] Endereço:Arthritis Research UK Centre for Genetics and Genomics, Centre for Musculoskeletal Research, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK.
[Ti] Título:Cross-phenotype association mapping of the MHC identifies genetic variants that differentiate psoriatic arthritis from psoriasis.
[So] Source:Ann Rheum Dis;76(10):1774-1779, 2017 Oct.
[Is] ISSN:1468-2060
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: Psoriatic arthritis (PsA) is a chronic inflammatory arthritis, with a strong heritable component, affecting patients with psoriasis. Here we attempt to identify genetic variants within the major histocompatibility complex (MHC) that differentiate patients with PsA from patients with cutaneous psoriasis alone (PsC). METHODS: 2808 patients with PsC, 1945 patients with PsA and 8920 population controls were genotyped. We imputed SNPs, amino acids and classical HLA alleles across the MHC and tested for association with PsA compared to population controls and the PsC patient group. In addition we investigated the impact of the age of disease onset on associations. RESULTS: HLA-C*06:02 was protective of PsA compared to PsC (p=9.57×10 , OR 0.37). The HLA-C*06:02 risk allele was associated with a younger age of psoriasis onset in all patients (p=1.01×10 ). After controlling for the age of psoriasis onset no association of PsA to HLA-C*06:02 (p=0.07) was observed; instead, the most significant association was to amino acid at position 97 of HLA-B (p=1.54×10 ) where the presence of asparagine or serine residue increased PsA risk. Asparagine at position 97 of HLA-B defines the HLA-B*27 alleles. CONCLUSIONS: By controlling for the age of psoriasis onset, we show, for the first time, that is not associated with PsA and that amino acid position 97 of HLA-B differentiates PsA from PsC. This amino acid also represents the largest genetic effect for ankylosing spondylitis, thereby refining the genetic overlap of these two spondyloarthropathies. Correcting for bias has important implications for cross-phenotype genetic studies.
[Mh] Termos MeSH primário: Artrite Psoriásica/genética
Antígeno HLA-B27/genética
Antígenos HLA-C/genética
Complexo Principal de Histocompatibilidade/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idade de Início
Alelos
Asparagina
Estudos de Casos e Controles
Genótipo
Seres Humanos
Fenótipo
Polimorfismo de Nucleotídeo Único
Psoríase/genética
Serina
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (HLA-B27 Antigen); 0 (HLA-C Antigens); 0 (HLA-C*06:02 antigen); 452VLY9402 (Serine); 7006-34-0 (Asparagine)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171013
[Lr] Data última revisão:
171013
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170820
[St] Status:MEDLINE
[do] DOI:10.1136/annrheumdis-2017-211414


  8 / 12329 MEDLINE  
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[PMID]:28806749
[Au] Autor:Leo PJ; Madeleine MM; Wang S; Schwartz SM; Newell F; Pettersson-Kymmer U; Hemminki K; Hallmans G; Tiews S; Steinberg W; Rader JS; Castro F; Safaeian M; Franco EL; Coutlée F; Ohlsson C; Cortes A; Marshall M; Mukhopadhyay P; Cremin K; Johnson LG; Garland S; Tabrizi SN; Wentzensen N; Sitas F; Little J; Cruickshank M; Frazer IH; Hildesheim A; Brown MA
[Ad] Endereço:Institute of Health and Biomedical Innovation, Queensland University of Technology, Translational Research Institute, Princess Alexandra Hospital, Woolloongabba, Australia.
[Ti] Título:Defining the genetic susceptibility to cervical neoplasia-A genome-wide association study.
[So] Source:PLoS Genet;13(8):e1006866, 2017 Aug.
[Is] ISSN:1553-7404
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:A small percentage of women with cervical HPV infection progress to cervical neoplasia, and the risk factors determining progression are incompletely understood. We sought to define the genetic loci involved in cervical neoplasia and to assess its heritability using unbiased unrelated case/control statistical approaches. We demonstrated strong association of cervical neoplasia with risk and protective HLA haplotypes that are determined by the amino-acids carried at positions 13 and 71 in pocket 4 of HLA-DRB1 and position 156 in HLA-B. Furthermore, 36% (standard error 2.4%) of liability of HPV-associated cervical pre-cancer and cancer is determined by common genetic variants. Women in the highest 10% of genetic risk scores have approximately >7.1% risk, and those in the highest 5% have approximately >21.6% risk, of developing cervical neoplasia. Future studies should examine genetic risk prediction in assessing the risk of cervical neoplasia further, in combination with other screening methods.
[Mh] Termos MeSH primário: Predisposição Genética para Doença
Estudo de Associação Genômica Ampla
Antígenos HLA-B/genética
Cadeias HLA-DRB1/genética
Neoplasias do Colo do Útero/genética
[Mh] Termos MeSH secundário: Alelos
Estudos de Casos e Controles
Feminino
Técnicas de Genotipagem
Haplótipos
Seres Humanos
Desequilíbrio de Ligação
Modelos Logísticos
Complexo Principal de Histocompatibilidade
Papillomaviridae
Polimorfismo de Nucleotídeo Único
Fatores de Risco
Neoplasias do Colo do Útero/diagnóstico
Neoplasias do Colo do Útero/virologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (HLA-B Antigens); 0 (HLA-DRB1 Chains)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170913
[Lr] Data última revisão:
170913
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170815
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pgen.1006866


  9 / 12329 MEDLINE  
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[PMID]:28754791
[Au] Autor:Xu R; Li Q; Liu R; Shen J; Li M; Zhao M; Wang M; Liao Q; Mao H; Li Z; Zhou N; Yin P; Li Y; Tang X; Wu T; Zhong Z; Wang Y; Ai Z; Wang O; Chen N; Yang X; Fang J; Fu P; Gu J; Ye K; Chen J; Dai L; Liu H; Liu Z; Liao Y; Wan J; Ding G; Zhao J; Zhang H; Fu S; Sun L; Zhang X; Yang H; Wang J; Wang J; Liu J; Li Y; Yu X
[Ad] Endereço:Department of Nephrology, The First Affiliated Hospital, Sun Yat-sen University, Key Laboratory of Nephrology, Ministry of Health, Guangzhou, Guangdong, China.
[Ti] Título:Association Analysis of the MHC in Lupus Nephritis.
[So] Source:J Am Soc Nephrol;28(11):3383-3394, 2017 Nov.
[Is] ISSN:1533-3450
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Lupus nephritis (LN) is one of the most prevalent and serious complications of SLE, with significant effects on patient and renal survival. Although a large number of genetic variants associated with SLE have been identified, biomarkers that correlate with LN are extremely limited. In this study, we performed a comprehensive sequencing analysis of the whole MHC region in 1331 patients with LN and 1296 healthy controls and validated the independent associations in another 950 patients with LN and 1000 controls. We discovered five independent risk variants for LN within the MHC region, including amino acid 11 ( <0.001), amino acid 45 ( <0.001; odds ratio, 0.58; 95% confidence interval, 0.52 to 0.65), amino acid 156 ( <0.001), amino acid 76 ( <0.001), and a missense variant in (rs114580964; <0.001; odds ratio, 0.38; 95% confidence interval, 0.30 to 0.49) at genome-wide significance. These data implicate aberrant peptide presentation by MHC classes 1 and 2 molecules and sex hormone modulation in the development of LN.
[Mh] Termos MeSH primário: Estudo de Associação Genômica Ampla
Nefrite Lúpica/genética
Complexo Principal de Histocompatibilidade/genética
[Mh] Termos MeSH secundário: Adulto
Feminino
Seres Humanos
Masculino
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171109
[Lr] Data última revisão:
171109
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170730
[St] Status:MEDLINE
[do] DOI:10.1681/ASN.2016121331


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[PMID]:28695288
[Au] Autor:Kelly A; Trowsdale J
[Ad] Endereço:Department of Pathology, University of Cambridge, Cambridge, CB21QP, UK.
[Ti] Título:Introduction: MHC/KIR and governance of specificity.
[So] Source:Immunogenetics;69(8-9):481-488, 2017 Aug.
[Is] ISSN:1432-1211
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The MHC controls specificity, to ensure that appropriate immune responses are mounted to invading pathogens whilst maintaining tolerance to the host. It encodes molecules that act as sentinels, providing a snapshot of the health of the interior and exterior of the cell for immune surveillance. To maintain the ability to respond appropriately to any disease requires a delicate balance of expression and function, and many subtleties of the system have been described at the gene, individual and population level. The main players are the highly polymorphic classical MHC class I and class II molecules, as well as some non-classical loci of both types. Transporter associated with antigen processing (TAP) peptide transporters, proteasome components and Tapasin, encoded within the MHC, are also involved in selection of peptide for presentation. The plethora of mechanisms microorganisms use to subvert immune recognition, through blocking these antigen processing and presentation pathways, attests to the importance of HLA in resistance to infection. There is continued interest in MHC genetics in its own right, as well as in relation to KIR, to transplantation, infection, autoimmunity and reproduction. Also of topical interest, cancer immunotherapy through checkpoint inhibition depends on highly specific recognition of cancer peptide antigen and continued expression of HLA molecules. Here, we briefly introduce some background to the MHC/KIR axis in man. This special issue of immunogenetics expands on these topics, in humans and other model species.
[Mh] Termos MeSH primário: Complexo Principal de Histocompatibilidade/genética
Receptores KIR/fisiologia
[Mh] Termos MeSH secundário: Animais
Apresentação do Antígeno
Haplótipos
Antígenos de Histocompatibilidade Classe I/genética
Antígenos de Histocompatibilidade Classe II/genética
Seres Humanos
Neoplasias/imunologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Histocompatibility Antigens Class I); 0 (Histocompatibility Antigens Class II); 0 (Receptors, KIR)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170929
[Lr] Data última revisão:
170929
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170712
[St] Status:MEDLINE
[do] DOI:10.1007/s00251-017-0986-6



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