Base de dados : MEDLINE
Pesquisa : D10.532.091.400 [Categoria DeCS]
Referências encontradas : 1594 [refinar]
Mostrando: 1 .. 10   no formato [Detalhado]

página 1 de 160 ir para página                         

  1 / 1594 MEDLINE  
              next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28139241
[Au] Autor:Pérez-Cerdá C; Girós ML; Serrano M; Ecay MJ; Gort L; Pérez Dueñas B; Medrano C; García-Alix A; Artuch R; Briones P; Pérez B
[Ad] Endereço:Center of Molecular Biology-Severo Ochoa, University Autonomous of Madrid-Spanish National Research Council, La Paz Institute for Health Research, Center for Biomedical Research on Rare Diseases, Madrid, Spain. Electronic address: Celia.perez@uam.es.
[Ti] Título:A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.
[So] Source:J Pediatr;183:170-177.e1, 2017 Apr.
[Is] ISSN:1097-6833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To describe the clinical, biochemical, and genetic features of patients with congenital disorders of glycosylation (CDG) identified in Spain during the last 20 years. STUDY DESIGN: Patients were selected among those presenting with multisystem disease of unknown etiology. The isoforms of transferrin and of ApoC3 and dolichols were analyzed in serum; phosphomannomutase and mannosephosphate isomerase activities were measured in fibroblasts. Conventional or massive parallel sequencing (customized panel or Illumina Clinical-Exome Sequencing TruSight One Gene Panel) was used to identify genes and mutations. RESULTS: Ninety-seven patients were diagnosed with 18 different CDG. Eighty-nine patients had a type 1 transferrin profile; 8 patients had a type 2 transferrin profile, with 6 of them showing an alteration in the ApoC3 isoform profile. A total of 75% of the patients had PMM2-CDG presenting with a heterogeneous mutational spectrum. The remaining patients showed mutations in any of the following genes: MPI, PGM1, GFPT1, SRD5A3, DOLK, DPGAT1, ALG1, ALG6, RFT1, SSR4, B4GALT1, DPM1, COG6, COG7, COG8, ATP6V0A2, and CCDC115. CONCLUSION: Based on literature and on this population-based study of CDG, a comprehensive scheme including reported clinical signs of CDG is offered, which will hopefully reduce the timeframe from clinical suspicion to genetic confirmation. The different defects of CDG identified in Spain have contributed to expand the knowledge of CDG worldwide. A predominance of PMM2 deficiency was detected, with 5 novel PMM2 mutations being described.
[Mh] Termos MeSH primário: Acetiltransferases/metabolismo
Apolipoproteínas C/metabolismo
Defeitos Congênitos da Glicosilação/diagnóstico
Defeitos Congênitos da Glicosilação/epidemiologia
[Mh] Termos MeSH secundário: Acetiltransferases/genética
Apolipoproteínas C/genética
Estudos de Coortes
Bases de Dados Factuais
Feminino
Marcadores Genéticos
Predisposição Genética para Doença
Testes Genéticos/métodos
Seres Humanos
Incidência
Recém-Nascido
Masculino
Mutação
Estudos Retrospectivos
Medição de Risco
Espanha/epidemiologia
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (APOC4 protein, human); 0 (Apolipoproteins C); 0 (Genetic Markers); EC 2.3.1.- (Acetyltransferases); EC 2.3.1.- (protein N-terminal acetyltransferase)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170615
[Lr] Data última revisão:
170615
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170201
[St] Status:MEDLINE


  2 / 1594 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27549216
[Au] Autor:Knöchel C; Kniep J; Cooper JD; Stäblein M; Wenzler S; Sarlon J; Prvulovic D; Linden DE; Bahn S; Stocki P; Ozcan S; Alves G; Carvalho AF; Reif A; Oertel-Knöchel V
[Ad] Endereço:Laboratory for Neuroimaging, Department of Psychiatry, Psychosomatic Medicine and Psychotherapy, Goethe University, Heinrich-Hoffmann-Str. 10, 60528, Frankfurt am Main, Germany. Christian.Knoechel@kgu.de.
[Ti] Título:Altered apolipoprotein C expression in association with cognition impairments and hippocampus volume in schizophrenia and bipolar disorder.
[So] Source:Eur Arch Psychiatry Clin Neurosci;267(3):199-212, 2017 Apr.
[Is] ISSN:1433-8491
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:Proteomic analyses facilitate the interpretation of molecular biomarker probes which are very helpful in diagnosing schizophrenia (SZ). In the current study, we attempt to test whether potential differences in plasma protein expressions in SZ and bipolar disorder (BD) are associated with cognitive deficits and their underlying brain structures. Forty-two plasma proteins of 29 SZ patients, 25 BD patients and 93 non-clinical controls were quantified and analysed using multiple reaction monitoring-based triple quadrupole mass spectrometry approach. We also computed group comparisons of protein expressions between patients and controls, and between SZ and BD patients, as well. Potential associations of protein levels with cognitive functioning (psychomotor speed, executive functioning, crystallised intelligence) as well as underlying brain volume in the hippocampus were explored, using bivariate correlation analyses. The main finding of this study was that apolipoprotein expression differed between patients and controls and that these alterations in both disease groups were putatively related to cognitive impairments as well as to hippocampus volumes. However, none of the protein level differences were related to clinical symptom severity. In summary, altered apolipoprotein expression in BD and SZ was linked to cognitive decline and underlying morphological changes in both disorders. Our results suggest that the detection of molecular patterns in association with cognitive performance and its underlying brain morphology is of great importance for understanding of the pathological mechanisms of SZ and BD, as well as for supporting the diagnosis and treatment of both disorders.
[Mh] Termos MeSH primário: Apolipoproteínas C/metabolismo
Transtorno Bipolar/complicações
Transtorno Bipolar/patologia
Transtornos Cognitivos/etiologia
Hipocampo/metabolismo
Esquizofrenia/complicações
Esquizofrenia/patologia
[Mh] Termos MeSH secundário: Adulto
Proteínas Sanguíneas/metabolismo
Feminino
Seres Humanos
Masculino
Espectrometria de Massas
Meia-Idade
Testes Neuropsicológicos
Escalas de Graduação Psiquiátrica
Estatística como Assunto
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Apolipoproteins C); 0 (Blood Proteins)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170928
[Lr] Data última revisão:
170928
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160824
[St] Status:MEDLINE
[do] DOI:10.1007/s00406-016-0724-3


  3 / 1594 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27547913
[Au] Autor:Chan AW; Wong GL; Chan HY; Tong JH; Yu YH; Choi PC; Chan HL; To KF; Wong VW
[Ad] Endereço:Department of Anatomical and Cellular Pathology, The Chinese University of Hong Kong, Hong Kong.
[Ti] Título:Concurrent fatty liver increases risk of hepatocellular carcinoma among patients with chronic hepatitis B.
[So] Source:J Gastroenterol Hepatol;32(3):667-676, 2017 Mar.
[Is] ISSN:1440-1746
[Cp] País de publicação:Australia
[La] Idioma:eng
[Ab] Resumo:BACKGROUND AND AIMS: Concurrent fatty liver in hepatitis B virus (HBV)-infected patients without significant alcohol intake is a frequent and increasingly alarming problem because of the non-alcoholic fatty liver disease pandemic. The risk of HBV-related hepatocellular carcinoma (HCC) development was increased by concomitant obesity and diabetes. Direct evidence of the hepatocarcinogenic effect of fatty liver in chronic HBV remains elusive. We aimed to evaluate the risk of concurrent histologically proven fatty liver in HBV hepatocarcinogenesis. METHODS: We conducted a retrospective cohort study on a liver biopsy cohort of HBV-infected patients without significant alcohol intake to evaluate the prevalence of concurrent histologically proven fatty liver and its association with subsequent HCC development. We also examined nine polymorphisms on six non-alcoholic fatty liver disease-related candidate genes (ADIPOQ, APOC3, GCKR, LEPR, PNPLA3, and PPARG). RESULTS: Among 270 HBV-infected patients, concurrent fatty liver was found in 107 patients (39.6%) and was associated with metabolic risks, cirrhosis (P = 0.016) and PNPLA3 rs738409 CG/GG genotype (P = 0.002). At a median follow-up of 79.9 months, 11 patients (4.1%) developed HCC, and nine of them had concurrent fatty liver. By multivariable Cox analysis, concurrent fatty liver (HR 7.27, 95% confidence interval: 1.52-34.76; P = 0.013), age, cirrhosis, and APOC3 rs2854116 TC/CC genotype (HR 3.93, 95% confidence interval: 1.30-11.84; P = 0.013) were independent factors predicting HCC development. CONCLUSIONS: Concurrent fatty liver is common in HBV-infected patients and an independent risk factor potentiating HBV-associated HCC development by 7.3-fold. The risk of HBV-related HCC is increased by APOC3 gene polymorphism, and further characterization is required by its role.
[Mh] Termos MeSH primário: Carcinoma Hepatocelular/etiologia
Hepatite B Crônica/complicações
Neoplasias Hepáticas/etiologia
Hepatopatia Gordurosa não Alcoólica/complicações
[Mh] Termos MeSH secundário: Adulto
Apolipoproteínas C/genética
Carcinoma Hepatocelular/epidemiologia
Estudos de Coortes
Complicações do Diabetes/complicações
Feminino
Estudos de Associação Genética
Genótipo
Seres Humanos
Neoplasias Hepáticas/epidemiologia
Masculino
Meia-Idade
Hepatopatia Gordurosa não Alcoólica/epidemiologia
Hepatopatia Gordurosa não Alcoólica/genética
Obesidade/complicações
Polimorfismo Genético
Prevalência
Estudos Retrospectivos
Risco
Fatores de Risco
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Apolipoproteins C)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170919
[Lr] Data última revisão:
170919
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160823
[St] Status:MEDLINE
[do] DOI:10.1111/jgh.13536


  4 / 1594 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27133274
[Au] Autor:Márk L; Dani G
[Ad] Endereço:II. Belgyógyászat-Kardiológia, Békés Megyei Pándy Kálmán Kórház Gyula, Semmelweis u. 1., 5700.
[Ti] Título:[Diabetic dyslipidaemia and the atherosclerosis].
[Ti] Título:Diabeteses dyslipidaemia és atherosclerosis..
[So] Source:Orv Hetil;157(19):746-52, 2016 May 08.
[Is] ISSN:0030-6002
[Cp] País de publicação:Hungary
[La] Idioma:hun
[Ab] Resumo:The incidence and the public health importance of diabetes mellitus are growing continuously. Despite the improvement observed in recent years, the leading cause of morbidity and mortality of diabetics are cardiovascular diseases. The diagnosis of diabetes mellitus constitutes such a high risk as the known presence of vascular disease. Diabetic dyslipidaemia is characterised by high fasting and postprandial triglyceride levels, low HDL level, and slightly elevated LDL-cholesterol with domination of atherogenic small dense LDL. These are not independent components of the atherogenic dyslipidaemia, but are closely linked to each other. Beside the known harmful effects of low HDL and small dense LDL, recent findings confirmed the atherogenicity of the triglyceride-rich lipoproteins and their remnants. It has been shown that the key of this process is the overproduction and delayed clearance of triglyceride-rich lipoproteins in the liver. In this metabolism the lipoprotein lipase has a determining role; its function is accelerated by ApoA5 and attenuated by ApoC3. The null mutations of the ApoC3 results in a reduced risk of myocardial infarction, the loss-of-function mutation of ApoA5 was associated with a 60% elevation of triglyceride level and 2.2-times increased risk of myocardial infarction. In case of diabetes mellitus, insulin resistance, obesity, metabolic syndrome and chronic kidney disease the non-HDL-cholesterol is a better marker of the risk than the LDL-cholesterol. Its value can be calculated by subtraction of HDL-cholesterol from total cholesterol. Target values of non-HDL-cholesterol can be obtained by adding 0.8 mmol/L to the LDL-cholesterol targets (this means 3.3 mmol/L in high, and 2.6 mmol/L in very high risk patients). The drugs of first choice in the treatment of diabetic dyslipidaemia are statins. Nevertheless, it is known that even if statin therapy is optimal (treated to target), a considerable residual (lipid) risk remains. For its reduction treatment of low HDL-cholesterol and high triglyceride levels is obvious by the administration of fibrates. In addition to statin therapy, fenofibrate can be recommended.
[Mh] Termos MeSH primário: Aterosclerose/etiologia
Diabetes Mellitus Tipo 2/complicações
Dislipidemias/tratamento farmacológico
Dislipidemias/etiologia
Hipolipemiantes/uso terapêutico
Lipase Lipoproteica/metabolismo
Triglicerídeos/metabolismo
[Mh] Termos MeSH secundário: Apolipoproteína A-V
Apolipoproteínas A/metabolismo
Apolipoproteínas C/metabolismo
Aterosclerose/sangue
Aterosclerose/metabolismo
Aterosclerose/prevenção & controle
Doenças Cardiovasculares/etiologia
HDL-Colesterol/sangue
LDL-Colesterol/sangue
Complicações do Diabetes/etiologia
Complicações do Diabetes/metabolismo
Diabetes Mellitus Tipo 2/metabolismo
Dislipidemias/sangue
Fenofibrato/uso terapêutico
Seres Humanos
Inibidores de Hidroximetilglutaril-CoA Redutases/uso terapêutico
Resistência à Insulina
Lipoproteínas/sangue
Síndrome Metabólica/complicações
Obesidade/complicações
Valor Preditivo dos Testes
Insuficiência Renal Crônica/complicações
Fatores de Risco
Triglicerídeos/sangue
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (APOA5 protein, human); 0 (Apolipoprotein A-V); 0 (Apolipoproteins A); 0 (Apolipoproteins C); 0 (Cholesterol, HDL); 0 (Cholesterol, LDL); 0 (Hydroxymethylglutaryl-CoA Reductase Inhibitors); 0 (Hypolipidemic Agents); 0 (Lipoproteins); 0 (Triglycerides); 0 (lipoprotein triglyceride); EC 3.1.1.34 (Lipoprotein Lipase); U202363UOS (Fenofibrate)
[Em] Mês de entrada:1607
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160503
[St] Status:MEDLINE
[do] DOI:10.1556/650.2016.30441


  5 / 1594 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27094595
[Au] Autor:Rasheed H; Phipps-Green AJ; Topless R; Smith MD; Hill C; Lester S; Rischmueller M; Janssen M; Jansen TL; Joosten LA; Radstake TR; Riches PL; Tausche AK; Lioté F; So A; van Rij A; Jones GT; McCormick SP; Harrison AA; Stamp LK; Dalbeth N; Merriman TR
[Ad] Endereço:Department of Biochemistry, University of Otago, Dunedin, New Zealand Department of Chemistry, University of Engineering and Technology, Lahore, Pakistan.
[Ti] Título:Replication of association of the apolipoprotein A1-C3-A4 gene cluster with the risk of gout.
[So] Source:Rheumatology (Oxford);55(8):1421-30, 2016 Aug.
[Is] ISSN:1462-0332
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Gout is associated with dyslipidaemia. Association of the apolipoprotein A1-C3-A4 gene cluster with gout has previously been reported in a small study. To investigate a possible causal role for this locus in gout, we tested the association of genetic variants from APOA1 (rs670) and APOC3 (rs5128) with gout. METHODS: We studied data for 2452 controls and 2690 clinically ascertained gout cases of European and New Zealand Polynesian (Maori and Pacific) ancestry. Data were also used from the publicly available Atherosclerosis Risk in Communities study (n = 5367) and the Framingham Heart Study (n = 2984). Multivariate adjusted logistic and linear regression was used to test the association of single-nucleotide polymorphisms with gout risk, serum urate, triglyceride and high-density lipoprotein cholesterol (HDL-C). RESULTS: In Polynesians, the T-allele of rs670 (APOA1) increased (odds ratio, OR = 1.53, P = 4.9 × 10(-6)) and the G-allele of rs5128 (APOC3) decreased the risk of gout (OR = 0.86, P = 0.026). In Europeans, there was a strong trend to a risk effect of the T-allele for rs670 (OR = 1.11, P = 0.055), with a significant protective effect of the G-allele for rs5128 being observed after adjustment for triglycerides and HDL-C (OR = 0.81, P = 0.039). The effect at rs5128 was specific to males in both Europeans and Polynesians. Association in Polynesians was independent of any effect of rs670 and rs5128 on triglyceride and HDL-C levels. There was no evidence for association of either single-nucleotide polymorphism with serum urate levels (P ⩾ 0.10). CONCLUSION: Our data, replicating a previous study, supports the hypothesis that the apolipoprotein A1-C3-A4 gene cluster plays a causal role in gout.
[Mh] Termos MeSH primário: Apolipoproteína A-I/genética
Gota/genética
Família Multigênica/genética
[Mh] Termos MeSH secundário: Adulto
Apolipoproteína C-III/genética
Apolipoproteínas C/genética
Estudos de Casos e Controles
Grupo com Ancestrais do Continente Europeu/genética
Feminino
Genótipo
Seres Humanos
Masculino
Meia-Idade
Grupo com Ancestrais Oceânicos/genética
Fatores de Risco
Ácido Úrico/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; MULTICENTER STUDY
[Nm] Nome de substância:
0 (APOA1 protein, human); 0 (APOC4 protein, human); 0 (Apolipoprotein A-I); 0 (Apolipoprotein C-III); 0 (Apolipoproteins C); 268B43MJ25 (Uric Acid)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170619
[Lr] Data última revisão:
170619
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:160421
[St] Status:MEDLINE
[do] DOI:10.1093/rheumatology/kew057


  6 / 1594 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:26756862
[Au] Autor:Cwiklinska A; Gliwinska A; Senderowska Z; Kortas-Stempak B; Kuchta A; Dabkowski K; Jankowski M
[Ad] Endereço:Department of Clinical Chemistry, Medical University of Gdansk, Debinki 7, 80-211 Gdansk, Poland. Electronic address: acwik@gumed.edu.pl.
[Ti] Título:Impact of phosphatidylcholine liposomes on the compositional changes of VLDL during lipoprotein lipase (LPL)-mediated lipolysis.
[So] Source:Chem Phys Lipids;195:63-70, 2016 Feb.
[Is] ISSN:1873-2941
[Cp] País de publicação:Ireland
[La] Idioma:eng
[Ab] Resumo:Lipoprotein lipase (LPL)-mediated triacylglycerol (TAG) hydrolysis in very low density lipoprotein (VLDL) is accompanied by the release of surface material containing phospholipids (PL), free cholesterol (FC) and apolipoproteins, E (apoE) and Cs (apoCII, apoCIII). The released molecules are accepted by high density lipoprotein (HDL), and new HDL-sized apoE-containing particles are also generated. A decrease in the number of HDL particles or abnormalities in their structure is associated with unfavourable changes in the features of VLDL remnants. Phosphatidylcholine liposomes (PC-L) can also act as acceptors of surface material components released from lipoproteins. Thus, the aim of this study was to assess the impact of liposomes on compositional changes of VLDL during its LPL-mediated lipolysis. VLDL isolated from human sera was incubated with LPL (LPL:VLDLTAG; 24 µg/ml:90 mg/dl) and/or PC-L (VLDLPL:PC-LPL; 1:30 weight ratio). After incubation (2h, 37 °C) VLDL was separated from other reaction products, and VLDL lipid and apolipoprotein content were analysed. Newly generated HDL-sized apoE-containing lipoproteins were separated by two-dimensional non-denaturing gradient gel electrophoresis (2D-PAGGE). The reaction of VLDL with PC-L in the presence or absence of LPL significantly affected the VLDL composition. The ratio of core (TAG+cholesteryl ester) to surface (PL+FC) lipids in VLDL decreased 1.8-fold with PC-L, 1.2-fold with LPL and 3-fold with PC-L+LPL. The reaction with PC-L and PC-L+LPL caused a 3.7-fold and 3.2-fold decrease of apoCs/apoE average weight ratio, respectively. Compositional changes in VLDL under the influence of PC-L were accompanied by an increase in the efficiency of VLDL lipolysis and the generation of apoE-containing HDL-sized particles, heterogeneous in size (from ∼ 9 to ∼ 18.8 nm) and mobility (γ and preß). We conclude that PL-rich particles, similarly to HDL, promote the release of surface material components from VLDL during LPL-mediated lipolysis and positively influence VLDL features which can facilitate VLDL metabolism. Such PC-L activity may impact on its antiatherogenic properties.
[Mh] Termos MeSH primário: Lipase Lipoproteica/metabolismo
Lipossomos/metabolismo
Fosfatidilcolinas/química
[Mh] Termos MeSH secundário: Apolipoproteínas C/metabolismo
Apolipoproteínas E/metabolismo
Eletroforese em Gel Bidimensional
Seres Humanos
Lipólise
Lipoproteínas VLDL/química
Lipoproteínas VLDL/metabolismo
Lipossomos/química
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Apolipoproteins C); 0 (Apolipoproteins E); 0 (Lipoproteins, VLDL); 0 (Liposomes); 0 (Phosphatidylcholines); EC 3.1.1.34 (Lipoprotein Lipase)
[Em] Mês de entrada:1609
[Cu] Atualização por classe:160213
[Lr] Data última revisão:
160213
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160113
[St] Status:MEDLINE


  7 / 1594 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
PubMed Central Texto completo
Texto completo
[PMID]:26692376
[Au] Autor:Payne R; Neykov M; Jensen MK; Cai T
[Ad] Endereço:Department of Biostatistics, Harvard School of Public Health, Boston, Massachusetts 02115, U.S.A.
[Ti] Título:Kernel machine testing for risk prediction with stratified case cohort studies.
[So] Source:Biometrics;72(2):372-81, 2016 Jun.
[Is] ISSN:1541-0420
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Large assembled cohorts with banked biospecimens offer valuable opportunities to identify novel markers for risk prediction. When the outcome of interest is rare, an effective strategy to conserve limited biological resources while maintaining reasonable statistical power is the case cohort (CCH) sampling design, in which expensive markers are measured on a subset of cases and controls. However, the CCH design introduces significant analytical complexity due to outcome-dependent, finite-population sampling. Current methods for analyzing CCH studies focus primarily on the estimation of simple survival models with linear effects; testing and estimation procedures that can efficiently capture complex non-linear marker effects for CCH data remain elusive. In this article, we propose inverse probability weighted (IPW) variance component type tests for identifying important marker sets through a Cox proportional hazards kernel machine (CoxKM) regression framework previously considered for full cohort studies (Cai et al., 2011). The optimal choice of kernel, while vitally important to attain high power, is typically unknown for a given dataset. Thus, we also develop robust testing procedures that adaptively combine information from multiple kernels. The proposed IPW test statistics have complex null distributions that cannot easily be approximated explicitly. Furthermore, due to the correlation induced by CCH sampling, standard resampling methods such as the bootstrap fail to approximate the distribution correctly. We, therefore, propose a novel perturbation resampling scheme that can effectively recover the induced correlation structure. Results from extensive simulation studies suggest that the proposed IPW CoxKM testing procedures work well in finite samples. The proposed methods are further illustrated by application to a Danish CCH study of Apolipoprotein C-III markers on the risk of coronary heart disease.
[Mh] Termos MeSH primário: Biomarcadores
Estudos de Coortes
Modelos de Riscos Proporcionais
Medição de Risco/métodos
[Mh] Termos MeSH secundário: Apolipoproteínas C/análise
Biometria/métodos
Simulação por Computador
Doença das Coronárias/diagnóstico
Seres Humanos
Medição de Risco/estatística & dados numéricos
Amostragem
Análise de Sobrevida
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Apolipoproteins C); 0 (Biomarkers)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170925
[Lr] Data última revisão:
170925
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151223
[St] Status:MEDLINE
[do] DOI:10.1111/biom.12452


  8 / 1594 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
PubMed Central Texto completo
Texto completo
[PMID]:26129832
[Au] Autor:Xu S; Cheng J; Li NH; Chen YN; Cai MY; Tang SS; Huang H; Zhang B; Cen JM; Yang XL; Chen C; Liu X; Xiong XD
[Ad] Endereço:Institute of Aging Research, Guangdong Medical University, Xin Cheng Avenue 1#, Songshan Lake, Dongguan, 523808, People's Republic of China.
[Ti] Título:The association of APOC4 polymorphisms with premature coronary artery disease in a Chinese Han population.
[So] Source:Lipids Health Dis;14:63, 2015 Jun 28.
[Is] ISSN:1476-511X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Hypercholesterolemia arising from abnormal lipid metabolism is one of the critical risk factors for coronary artery disease (CAD), however the roles of genetic variants in lipid metabolism-related genes on premature CAD (≤ 60 years old) development still require further investigation. We herein genotyped four single nucleotide polymorphisms (SNPs) in lipid metabolism-related genes (rs1132899 and rs5167 in APOC4, rs1801693 and rs7765781 in LPA), aimed to shed light on the influence of these SNPs on individual susceptibility to early-onset CAD. METHODS: Genotyping of the four SNPs (rs1132899, rs5167, rs1801693 and rs7765781) was performed in 224 premature CAD cases and 297 control subjects (≤ 60 years old) using polymerase chain reaction-ligation detection reaction (PCR-LDR) method. The association of these SNPs with premature CAD was performed with SPSS software. RESULTS: Multivariate logistic regression analysis showed that C allele (OR = 1.50, P = 0.027) and CC genotype (OR = 2.84, P = 0.022) of APOC4 rs1132899 were associated with increased premature CAD risk, while the other three SNPs had no significant effect. Further stratified analysis uncovered a more evident association with the risk of premature CAD among male subjects (C allele, OR = 1.65, and CC genotype, OR = 3.33). CONCLUSIONS: Our data provides the first evidence that APOC4 rs1132899 polymorphism was associated with an increased risk of premature CAD in Chinese subjects, and the association was more significant among male subjects.
[Mh] Termos MeSH primário: Apolipoproteínas C/genética
Grupo com Ancestrais do Continente Asiático/genética
Doença da Artéria Coronariana/genética
Grupos Étnicos/genética
Estudos de Associação Genética
Predisposição Genética para Doença
Polimorfismo de Nucleotídeo Único/genética
[Mh] Termos MeSH secundário: Análise de Variância
Estudos de Casos e Controles
Doença da Artéria Coronariana/sangue
Feminino
Seres Humanos
Lipídeos/sangue
Lipoproteína(a)/genética
Masculino
Meia-Idade
Análise Multivariada
Fatores de Risco
Fumar/efeitos adversos
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (APOC4 protein, human); 0 (Apolipoproteins C); 0 (Lipids); 0 (Lipoprotein(a))
[Em] Mês de entrada:1603
[Cu] Atualização por classe:150729
[Lr] Data última revisão:
150729
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150702
[St] Status:MEDLINE
[do] DOI:10.1186/s12944-015-0065-7


  9 / 1594 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:25470794
[Au] Autor:Raj R; Bhatti JS; Badada SK; Ramteke PW
[Ad] Endereço:Department of Computational Biology and Bioinformatics, Sam Higginbottom Institute of Agriculture, Technology and Sciences, Deemed to be University, Allahabad, India.
[Ti] Título:Genetic basis of dyslipidemia in disease precipitation of coronary artery disease (CAD) associated type 2 diabetes mellitus (T2DM).
[So] Source:Diabetes Metab Res Rev;31(7):663-71, 2015 Oct.
[Is] ISSN:1520-7560
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Type 2 diabetes mellitus (T2DM) and its complications are linked to environmental, clinical, and genetic factors. This review analyses the disorders of lipids and their genetics with respect to coronary artery disease (CAD) associated with T2DM. Cell organelles, hepatitis C-virus infection, reactive oxygen species produced in mitochondria, and defective insulin signaling due to the arrest of G1 phase to S phase transition of ß-cells have significant roles in the precipitation of the diseases. Adiponectin is anti-inflammatory and anti-atherosclerotic and improves insulin resistance. Low-density lipoprotein (LDL) is atherosclerotic, and LDL-cholesterol in T2DM is associated with high-cardiovascular risk. Further, LDL cholesterol reduction significantly reduces cardiovascular morbidity and mortality. High-density lipoprotein (HDL) is also anti-atherosclerotic due to HDL associated paraoxonase-1 serum enzyme, which prevents LDL oxidative modifications and the development of CAD. Moreover, elevated apolipoprotein B and apolipoprotein A-I (ApoB/ApoA-I) ratio in plasma is also a risk factor for CAD. LDL receptor, adiponectin, and endocannabinoid receptor-1 genes are independently associated with CAD and T2DM. Polymorphism of Apo E2 (epsilon2) is a positive factor to increase the T2DM risk and Apo E4 (epsilon4) is a negative factor to reduce the disease risk. Taq 1B polymorphism of cholesterol ester transfer protein (CETP) gene contributes to the development of atherosclerosis, whereas haplotypes of APOA5, APOC3, APOC4, and APOC5 genes are in the same cluster and are independently associated with high plasma triglyceride level, CAD and T2DM. In conclusion, because various genes, LDLR, CETP, APOA5, Apo E, Apo B, and Apo A-I, are associated with the precipitation of CAD associated with T2DM, a personalized diet-gene intervention therapy may be advocated to reduce the disease precipitation.
[Mh] Termos MeSH primário: Doença da Artéria Coronariana/complicações
Diabetes Mellitus Tipo 2/complicações
Dislipidemias/complicações
[Mh] Termos MeSH secundário: Adiponectina/genética
Adiponectina/metabolismo
Apolipoproteína A-V
Apolipoproteína C-III/genética
Apolipoproteína E2/genética
Apolipoproteína E4/genética
Apolipoproteínas A/genética
Apolipoproteínas C/genética
Arildialquilfosfatase/metabolismo
Proteínas de Transferência de Ésteres de Colesterol/genética
HDL-Colesterol/metabolismo
LDL-Colesterol/metabolismo
Dislipidemias/genética
Dislipidemias/metabolismo
Pontos de Checagem da Fase G1 do Ciclo Celular
Hepatite C/metabolismo
Seres Humanos
Mitocôndrias/metabolismo
Polimorfismo Genético
Espécies Reativas de Oxigênio/metabolismo
Receptor CB1 de Canabinoide/genética
Receptores de LDL/genética
Fatores de Risco
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (APOA5 protein, human); 0 (APOC4 protein, human); 0 (Adiponectin); 0 (Apolipoprotein A-V); 0 (Apolipoprotein C-III); 0 (Apolipoprotein E2); 0 (Apolipoprotein E4); 0 (Apolipoproteins A); 0 (Apolipoproteins C); 0 (CETP protein, human); 0 (Cholesterol Ester Transfer Proteins); 0 (Cholesterol, HDL); 0 (Cholesterol, LDL); 0 (Reactive Oxygen Species); 0 (Receptor, Cannabinoid, CB1); 0 (Receptors, LDL); EC 3.1.8.1 (Aryldialkylphosphatase); EC 3.1.8.1 (PON1 protein, human)
[Em] Mês de entrada:1608
[Cu] Atualização por classe:161125
[Lr] Data última revisão:
161125
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:141204
[St] Status:MEDLINE
[do] DOI:10.1002/dmrr.2630


  10 / 1594 MEDLINE  
              first record previous record
seleciona
para imprimir
Fotocópia
PubMed Central Texto completo
Texto completo
[PMID]:25502789
[Au] Autor:Fukuhara T; Wada M; Nakamura S; Ono C; Shiokawa M; Yamamoto S; Motomura T; Okamoto T; Okuzaki D; Yamamoto M; Saito I; Wakita T; Koike K; Matsuura Y
[Ad] Endereço:Department of Molecular Virology, Research Institute for Microbial Diseases, Osaka University, Osaka, Japan.
[Ti] Título:Amphipathic α-helices in apolipoproteins are crucial to the formation of infectious hepatitis C virus particles.
[So] Source:PLoS Pathog;10(12):e1004534, 2014 Dec.
[Is] ISSN:1553-7374
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Apolipoprotein B (ApoB) and ApoE have been shown to participate in the particle formation and the tissue tropism of hepatitis C virus (HCV), but their precise roles remain uncertain. Here we show that amphipathic α-helices in the apolipoproteins participate in the HCV particle formation by using zinc finger nucleases-mediated apolipoprotein B (ApoB) and/or ApoE gene knockout Huh7 cells. Although Huh7 cells deficient in either ApoB or ApoE gene exhibited slight reduction of particles formation, knockout of both ApoB and ApoE genes in Huh7 (DKO) cells severely impaired the formation of infectious HCV particles, suggesting that ApoB and ApoE have redundant roles in the formation of infectious HCV particles. cDNA microarray analyses revealed that ApoB and ApoE are dominantly expressed in Huh7 cells, in contrast to the high level expression of all of the exchangeable apolipoproteins, including ApoA1, ApoA2, ApoC1, ApoC2 and ApoC3 in human liver tissues. The exogenous expression of not only ApoE, but also other exchangeable apolipoproteins rescued the infectious particle formation of HCV in DKO cells. In addition, expression of these apolipoproteins facilitated the formation of infectious particles of genotype 1b and 3a chimeric viruses. Furthermore, expression of amphipathic α-helices in the exchangeable apolipoproteins facilitated the particle formation in DKO cells through an interaction with viral particles. These results suggest that amphipathic α-helices in the exchangeable apolipoproteins play crucial roles in the infectious particle formation of HCV and provide clues to the understanding of life cycle of HCV and the development of novel anti-HCV therapeutics targeting for viral assembly.
[Mh] Termos MeSH primário: Apolipoproteínas B/química
Apolipoproteínas B/fisiologia
Apolipoproteínas E/química
Apolipoproteínas E/fisiologia
Hepacivirus/patogenicidade
Estrutura Secundária de Proteína/fisiologia
Vírion/patogenicidade
[Mh] Termos MeSH secundário: Apolipoproteínas A/fisiologia
Apolipoproteínas B/genética
Apolipoproteínas C/fisiologia
Apolipoproteínas E/genética
Carcinoma Hepatocelular/patologia
Carcinoma Hepatocelular/virologia
Linhagem Celular Tumoral
Regulação Viral da Expressão Gênica/efeitos dos fármacos
Técnicas de Inativação de Genes
Hepacivirus/fisiologia
Seres Humanos
Neoplasias Hepáticas/patologia
Neoplasias Hepáticas/virologia
RNA Interferente Pequeno/farmacologia
Vírion/fisiologia
Replicação Viral/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Apolipoproteins A); 0 (Apolipoproteins B); 0 (Apolipoproteins C); 0 (Apolipoproteins E); 0 (RNA, Small Interfering)
[Em] Mês de entrada:1507
[Cu] Atualização por classe:170910
[Lr] Data última revisão:
170910
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:141216
[St] Status:MEDLINE
[do] DOI:10.1371/journal.ppat.1004534



página 1 de 160 ir para página                         
   


Refinar a pesquisa
  Base de dados : MEDLINE Formulário avançado   

    Pesquisar no campo  
1  
2
3
 
           



Search engine: iAH v2.6 powered by WWWISIS

BIREME/OPAS/OMS - Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde