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  1 / 19763 MEDLINE  
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[PMID]:29410289
[Au] Autor:Xu Y; Ren J; Ye H
[Ad] Endereço:Department of Medical Genetics and Developmental Biology, School of Basic Medical Sciences, Beijing Institute for Brain Disorders, Center of Schizophrenia, Capital Medical University, Beijing 100069, China. Electronic address: xuyl@ccmu.edu.cn.
[Ti] Título:Association between variations in the disrupted in schizophrenia 1 gene and schizophrenia: A meta-analysis.
[So] Source:Gene;651:94-99, 2018 Apr 20.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Schizophrenia is a severe psychiatric disorder. Genetic and functional studies have strongly implicated the disrupted in schizophrenia 1 gene (DISC1) as a candidate susceptibility gene for schizophrenia. Moreover, recent association studies have indicated that several DISC1 single nucleotide polymorphisms (SNPs) are associated with schizophrenia. However, the association is hardly replicate in different ethnic group. Here, we performed a meta-analysis of the association between DISC1 SNPs and schizophrenia in which the samples were divided into subgroups according to ethnicity. Both rs3738401 and rs821616 showed not significantly association with schizophrenia in the Caucasian, Asian, Japanese or Han Chinese populations.
[Mh] Termos MeSH primário: Proteínas do Tecido Nervoso/genética
Polimorfismo de Nucleotídeo Único
Esquizofrenia/genética
[Mh] Termos MeSH secundário: Grupo com Ancestrais do Continente Asiático/genética
Grupo com Ancestrais do Continente Europeu/genética
Estudos de Associação Genética
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE; META-ANALYSIS
[Nm] Nome de substância:
0 (DISC1 protein, human); 0 (Nerve Tissue Proteins)
[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:180208
[St] Status:MEDLINE


  2 / 19763 MEDLINE  
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[PMID]:29408620
[Au] Autor:Qiu S; Li Y; Li Y; Zhong W; Shi M; Zhao Q; Zhang K; Wang Y; Lu M; Zhu X; Jiang H; Yu Y; Cheng Y; Liu Y
[Ad] Endereço:Department of Epidemiology and Biostatistics, School of Public Health, Jilin University, Changchun 130021, Jilin, China.
[Ti] Título:Association between SHANK3 polymorphisms and susceptibility to autism spectrum disorder.
[So] Source:Gene;651:100-105, 2018 Apr 20.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Autism spectrum disorder (ASD), as one of neurodevelopmental disorders, affects about 1/160 of people worldwide. The etiology and pathogenesis of ASD remain elusive. Synapses are essential components of neurons and basic information transmission unit in the nervous system, adjusting behavior to environmental stimuli and controlling body functions, memories, and emotions. SHANK3 is one of the synapse genes which play important roles in maintaining synaptic structure and function. SHANK3 has been researched as a probably susceptibility gene for ASD. We investigated the association between polymorphisms in SHANK3 and ASD in the Northeast Han Chinese population. A total of 470 subjects (229 cases and 241 controls) were enrolled in our case-control study. Five single nucleotide polymorphisms (SNPs) (rs756638, rs4824116, rs76268556, rs9616915, and rs75767639) in SHANK3 were selected and genotyped. Our study did not identify a significant association of SHANK3 SNPs with ASD in the Northeast Han Chinese population. Future studies need to test more SHANK3 SNPs in large sample to demonstrate the association between SNPs in SHANK3 and ASD.
[Mh] Termos MeSH primário: Grupo com Ancestrais do Continente Asiático/genética
Transtorno do Espectro Autista/genética
Proteínas do Tecido Nervoso/genética
Polimorfismo de Nucleotídeo Único
[Mh] Termos MeSH secundário: Estudos de Casos e Controles
Pré-Escolar
Feminino
Estudos de Associação Genética
Predisposição Genética para Doença
Seres Humanos
Masculino
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Nerve Tissue Proteins); 0 (SHANK3 protein, human)
[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:180207
[St] Status:MEDLINE


  3 / 19763 MEDLINE  
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[PMID]:29391274
[Au] Autor:Chen YL; Li TJ; Hao Y; Wu BG; Li H; Geng N; Sun ZQ; Zheng LQ; Sun YX
[Ad] Endereço:Department of Cardiology, The First Hospital of China Medical University, Shenyang, Liaoning, PR China.
[Ti] Título:Association of rs2271037 and rs3749585 polymorphisms in CORIN with susceptibility to hypertension in a Chinese Han population: A case-control study.
[So] Source:Gene;651:79-85, 2018 Apr 20.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Corins are membrane-bound protease that regulates blood pressure by activating the natriuretic peptides. These pro-atrial natriuretic peptide convertases are essential for sodium homeostasis and normal blood pressure. CORIN variants have been identified in humans and other animals, but no studies of CORIN polymorphisms have been conducted in northeastern China. This study aims to investigate the association of 2 single nucleotide polymorphisms (SNPs) in CORIN (rs2271037 and rs3749585) with hypertension, as well as their potential interactions with some risk factors of hypertension in a Han population of northeastern China. A case-control study, including 402 patients with hypertension and 406 participants with normal blood pressure, was conducted in Liaoning province. SNP genotyping was carried out by high resolution melting (HRM) after polymerase chain reaction amplifications. Since rs3749585 is located in 3' untranslated region (UTR) of CORIN, in silico analysis was used to predict target micro RNAs on TargetScan, miRanda, and DIANA-microT. As a result, mutant T allele in rs2271037 (odds ratio [OR], 1.693; 95% confidence [CI], 1.528-1.877; p < 0.001) and C allele in rs3749585 (OR, 1.114; 95% CI 1.011-1.227; p = 0.029) increased the risk of hypertension, comparing with wild G allele and T allele, respectively. Patients with genotype TT (OR, 10.209; 95% CI, 6.414-16.250; p < 0.001) and GT (OR, 1.730; 95% CI, 1.226-2.443; p = 0.002) have higher risk of hypertension than those with genotype GG. SNP rs2271037 was significantly associated with susceptibility to hypertension in all genetic models (dominant model: OR, 2.879; 95% CI, 2.080-3.986; p < 0.001; recessive model: OR, 7.159; 95% CI, 4.779-10.724; p < 0.001; additive model: OR, 1.535; 95% CI, 1.163-2.027; p = 0.002). SNP rs3749585 was significantly correlated with hypertension susceptibility only in dominant model (OR, 1.533; 95% CI, 1.073-2.189; p = 0.019), but not in recessive model (OR, 1.220; 95% CI, 0.906-1.644; p = 0.191) or additive model (OR, 0.915; 95% CI, 0.694-1.205; p = 0.527). After adjusting for age, gender, body mass index (BMI), smoking, low-density lipoprotein cholesterol, and serum sodium level in logistic models, the same statistical results were obtained. Interaction study showed the association between CORIN polymorphisms and hypertension could be changed by overweight (BMI ≥ 25 kg/m ). In silico analyses implicated hsa-miR-495 as a target miRNA that potentially interacts with the 3' UTR of CORIN. In conclusion, polymorphisms of rs2271037 and rs3749585 in CORIN were significantly associated with hypertension in a Han population of northeastern China. The mutant-type T allele of rs2271037 and C allele of rs3749585 might increase the susceptibility to hypertension in this population.
[Mh] Termos MeSH primário: Grupo com Ancestrais do Continente Asiático/genética
Hipertensão/genética
Polimorfismo de Nucleotídeo Único
Serina Endopeptidases/genética
[Mh] Termos MeSH secundário: Alelos
Estudos de Casos e Controles
Feminino
Interação Gene-Ambiente
Estudos de Associação Genética
Predisposição Genética para Doença
Genótipo
Seres Humanos
Masculino
MicroRNAs/metabolismo
Meia-Idade
RNA Mensageiro/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (MicroRNAs); 0 (RNA, Messenger); EC 3.4.21.- (CORIN protein, human); EC 3.4.21.- (Serine Endopeptidases)
[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:180203
[St] Status:MEDLINE


  4 / 19763 MEDLINE  
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[PMID]:29330562
[Au] Autor:Zhao L; Zhu H; Han B; Wang L; Sun Y; Lu X; Huang C; Tan B; Chen C; Qin L
[Ad] Endereço:Department of Laboratory Medicine, West China Hospital, Sichuan University, Chengdu, 610041, People's Republic of China.
[Ti] Título:Influence of genetic polymorphisms of IL23R, STAT3, IL12B, and STAT4 on the risk of aplastic anemia and the effect of immunosuppressive therapy.
[So] Source:Ann Hematol;97(4):685-695, 2018 Apr.
[Is] ISSN:1432-0584
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:Studies have suggested that IL-23/STAT3 and IL-12/STAT4 signaling pathways associate with aplastic anemia (AA) occurrence. Polymorphisms in pathway-related genes may contribute to AA risk. In the current study, we investigated the association between polymorphisms in genes of IL23R, STAT3, IL12B, and STAT4 and occurrence, severity, and immunosuppressive outcome of AA in the Han population in southwest China. In the current 164 AA cases and 211 controls study, we found T allele and TT genotype of rs7574865 were more frequent in the cases than that in the controls. In the additive model, individual carrying rs7574865 T allele demonstrated a 37% (OR (95% CI) = 1.37 (1.02-1.85), Pper = 0.036) increased AA risk. In the recessive model, carrier with rs7574865 TT genotype showed a 2.08-fold increased AA risk (OR (95% CI) = 2.08 (1.14-3.70), Pper = 0.017). Additionally, we showed that G allele and GG genotype of rs11209032 were more frequent in the 88 non-severe AA cases than that in the 76 severe AA ones. Our study also found G allele and GG genotype of rs11209032, and GG-genotype of rs744166 associated with the immunosuppressive therapy outcome in AA patients. Current study results support that functional STAT4 (rs7574865), IL23R (rs11209032), and STAT3 (rs744166) variants may associate with occurrence, severity, and immunosuppressive outcome of AA in the Han population in southwest China.
[Mh] Termos MeSH primário: Anemia Aplástica/genética
Anemia Aplástica/terapia
Imunossupressão
Polimorfismo de Nucleotídeo Único
Receptores de Interleucina/genética
Fator de Transcrição STAT3/genética
Fator de Transcrição STAT4/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Anemia Aplástica/imunologia
Anemia Aplástica/fisiopatologia
Grupo com Ancestrais do Continente Asiático
Estudos de Casos e Controles
China
Feminino
Seguimentos
Estudos de Associação Genética
Predisposição Genética para Doença
Seres Humanos
Subunidade p40 da Interleucina-12/genética
Masculino
Meia-Idade
Estudos Retrospectivos
Índice de Gravidade de Doença
Resultado do Tratamento
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; META-ANALYSIS
[Nm] Nome de substância:
0 (IL12B protein, human); 0 (IL23R protein, human); 0 (Interleukin-12 Subunit p40); 0 (Receptors, Interleukin); 0 (STAT3 Transcription Factor); 0 (STAT3 protein, human); 0 (STAT4 Transcription Factor); 0 (STAT4 protein, human)
[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:180114
[St] Status:MEDLINE
[do] DOI:10.1007/s00277-018-3227-7


  5 / 19763 MEDLINE  
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[PMID]:29214790
[Au] Autor:Lee CJ; Oum CY; Lee Y; Park S; Kang SM; Choi D; Jang Y; Lee JH; Lee SH
[Ad] Endereço:Division of Cardiology, Department of Internal Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
[Ti] Título:Variants of Lipolysis-Related Genes in Korean Patients with Very High Triglycerides.
[So] Source:Yonsei Med J;59(1):148-153, 2018 Jan.
[Is] ISSN:1976-2437
[Cp] País de publicação:Korea (South)
[La] Idioma:eng
[Ab] Resumo:We investigated the prevalence and characteristics of variants of five lipolysis-related genes in Korean patients with very high triglycerides (TGs). Twenty-six patients with TG levels >885 mg/dL were selected from 13545 Korean subjects. Five candidate genes, LPL, APOC2, GPIHBP1, APOA5, and LMF1, were sequenced by targeted next-generation sequencing. Predictions of functional effects were performed and matched against public databases of variants. Ten rare variants of three genes were found in nine (34.6%) patients (three in LPL, four in APOA5, and three in LMF1). Five were novel and all variants were suspected of being disease-causing. Nine were heterozygous, and one (3.8%) had a homozygous rare variant of LPL. Six common variants of four genes were observed in 25 (96.2%) patients (one in LPL, one in GPIHBP1, two in APOA5, and two in LMF1). The c.G41T variant of GPIHBP1 and c.G533T variant of APOA5 were most frequent and found in 15 (57.7%) and 14 (53.8%) patients, respectively. Rare homozygous variants of the genes were very uncommon, while diverse rare heterozygous variants were commonly identified. Taken together, most study subjects may be manifesting the combined effects of rare heterozygous variants and common variants.
[Mh] Termos MeSH primário: Grupo com Ancestrais do Continente Asiático/genética
Variação Genética
Lipólise/genética
Triglicerídeos/sangue
[Mh] Termos MeSH secundário: Apolipoproteína A-V
Feminino
Estudos de Associação Genética
Heterozigoto
Seres Humanos
Masculino
Meia-Idade
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Apolipoprotein A-V); 0 (Triglycerides)
[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:171208
[St] Status:MEDLINE
[do] DOI:10.3349/ymj.2018.59.1.148


  6 / 19763 MEDLINE  
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[PMID]:29214786
[Au] Autor:Kim KY; Bae YS; Ji W; Shin D; Kim HS; Kim DS
[Ad] Endereço:Department of Pediatrics, Yonsei University College of Medicine, Severance Children's Hospital, Seoul, Korea.
[Ti] Título:ITPKC and SLC11A1 Gene Polymorphisms and Gene-Gene Interactions in Korean Patients with Kawasaki Disease.
[So] Source:Yonsei Med J;59(1):119-127, 2018 Jan.
[Is] ISSN:1976-2437
[Cp] País de publicação:Korea (South)
[La] Idioma:eng
[Ab] Resumo:PURPOSE: Kawasaki disease (KD) is an acute systemic vasculitis. Both the etiology of KD and the erythema of Bacille Calmette-Guérin (BCG) injection sites observed in the disease are poorly understood. We investigated the association between KD and single nucleotide polymorphisms (SNPs) in two candidate genes: inositol 1,4,5-triphosphate 3-kinase (ITPKC), a well-studied KD-associated gene, and solute carrier 11a1 (SLC11A1), which is associated with the hypersensitive reaction to the BCG strain in Koreans. MATERIALS AND METHODS: Associations between KD and SNPs in two genes were evaluated. Potential associations between BCG injection site erythema and SNPs in two genes were also evaluated. Gene-gene interactions between ITPKC and SLC11A1 in KD and BCG injection site erythema were also analyzed. RESULTS: Three tagging SNPs in ITPKC and five tagging SNPs in SLC11A1 were genotyped in 299 KD patients and 210 control children. SNP rs28493229 in ITPKC was associated with KD and coronary artery complications. SNP rs77624405 in SLC11A1 was associated with KD. Comparisons of KD patients with and without BCG injection site erythema revealed that SNP rs17235409 in SLC11A1 was associated with erythema; no erythema-associated SNPs in ITPKC were identified. Interactions between ITPKC rs28493229_GG and SLC11A1 rs17235409_GA and between ITPKC rs10420685_GG and SLC11A1 rs17235409_AA were strongly associated with BCG injection site erythema. CONCLUSION: This study identified several important polymorphisms in the ITPKC and SLC11A1 genes in Koreans. The genetic variants identified in this study affected KD and erythema of BCG injection sites independently and through gene-gene interactions. Also, the effects of the polymorphisms were age-dependent.
[Mh] Termos MeSH primário: Grupo com Ancestrais do Continente Asiático/genética
Proteínas de Transporte de Cátions/genética
Epistasia Genética
Predisposição Genética para Doença
Síndrome de Linfonodos Mucocutâneos/genética
Fosfotransferases (Aceptor do Grupo Álcool)/genética
Polimorfismo de Nucleotídeo Único/genética
[Mh] Termos MeSH secundário: Vacina BCG/administração & dosagem
Estudos de Casos e Controles
Criança
Pré-Escolar
Eritema/complicações
Feminino
Estudos de Associação Genética
Seres Humanos
Lactente
Masculino
Taxa de Mutação
República da Coreia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (BCG Vaccine); 0 (Cation Transport Proteins); 0 (natural resistance-associated macrophage protein 1); EC 2.7.1.- (Phosphotransferases (Alcohol Group Acceptor)); EC 2.7.1.127 (Inositol 1,4,5-trisphosphate 3-kinase)
[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:171208
[St] Status:MEDLINE
[do] DOI:10.3349/ymj.2018.59.1.119


  7 / 19763 MEDLINE  
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[PMID]:28470244
[Au] Autor:Chen X; Jiang ZC; Xie D; Huang DS; Zhao Q; Yan GY; You ZH
[Ad] Endereço:School of Information and Control Engineering, China University of Mining and Technology, Xuzhou, 221116, China. xingchen@amss.ac.cn.
[Ti] Título:A novel computational model based on super-disease and miRNA for potential miRNA-disease association prediction.
[So] Source:Mol Biosyst;13(6):1202-1212, 2017 May 30.
[Is] ISSN:1742-2051
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:In recent years, more and more studies have indicated that microRNAs (miRNAs) play critical roles in various complex human diseases and could be regarded as important biomarkers for cancer detection in early stages. Developing computational models to predict potential miRNA-disease associations has become a research hotspot for significant reduction of experimental time and cost. Considering the various disadvantages of previous computational models, we proposed a novel computational model based on super-disease and miRNA for potential miRNA-disease association prediction (SDMMDA) to predict potential miRNA-disease associations by integrating known associations, disease semantic similarity, miRNA functional similarity, and Gaussian interaction profile kernel similarity for diseases and miRNAs. SDMMDA could be applied to new diseases without any known associated miRNAs as well as new miRNAs without any known associated diseases. Due to the fact that there are very few known miRNA-disease associations and many associations are 'missing' in the known training dataset, we introduce the concepts of 'super-miRNA' and 'super-disease' to enhance the similarity measures of diseases and miRNAs. These super classes could help in including the missing associations and improving prediction accuracy. As a result, SDMMDA achieved reliable performance with AUCs of 0.9032, 0.8323, and 0.8970 in global leave-one-out cross validation, local leave-one-out cross validation, and 5-fold cross validation, respectively. In addition, esophageal neoplasms, breast neoplasms, and prostate neoplasms were taken as independent case studies, where 46, 43 and 48 out of the top 50 predicted miRNAs were successfully confirmed by recent experimental literature. It is anticipated that SDMMDA would be an important biological resource for experimental guidance.
[Mh] Termos MeSH primário: Biologia Computacional/métodos
Simulação por Computador
MicroRNAs/genética
[Mh] Termos MeSH secundário: Algoritmos
Estudos de Associação Genética
Predisposição Genética para Doença/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (MicroRNAs)
[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:170505
[St] Status:MEDLINE
[do] DOI:10.1039/c6mb00853d


  8 / 19763 MEDLINE  
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[PMID]:28456785
[Au] Autor:Huang H; Wang Y; Chen H; Chen Y; Wu J; Chiang PW; Fan N; Su Y; Deng J; Chen D; Li Y; Zhang X; Zhang M; Liang S; Banerjee S; Qi M; Liu X
[Ad] Endereço:BGI-Shenzhen, Shenzhen, China.
[Ti] Título:Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients.
[So] Source:Oncotarget;8(21):35176-35183, 2017 May 23.
[Is] ISSN:1949-2553
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:As the most common inherited retinal degenerations, retinitis pigmentosa (RP) is clinically and genetically heterogeneous. Some of the RP genes are also associated with other retinal diseases, such as LCA (Leber's congenital amaurosis) and CORD (cone-rod dystrophy). Here, in our molecular diagnosis of 99 Chinese RP patients using targeted gene capture sequencing, three probands were found to carry mutations of RPGRIP1, which was known to be associated with pathogenesis of LCA and CORD. By further clinical analysis, two probands were confirmed to be RP patients and one was confirmed to be LCA patient. These novel mutations were co-segregated with the disease phenotype in their families. Our result not only expands the mutational spectrum of the RPGRIP1 gene but also gives supports to clinical diagnosis and molecular treatment of RP patients.
[Mh] Termos MeSH primário: Grupo com Ancestrais do Continente Asiático/genética
Sequenciamento de Nucleotídeos em Larga Escala/métodos
Amaurose Congênita de Leber/genética
Mutação
Proteínas/genética
Retinite Pigmentosa/genética
[Mh] Termos MeSH secundário: Adulto
China
Feminino
Estudos de Associação Genética
Predisposição Genética para Doença
Seres Humanos
Masculino
Linhagem
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Proteins); 0 (RPGRIP1 protein, human)
[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:170501
[St] Status:MEDLINE
[do] DOI:10.18632/oncotarget.17052


  9 / 19763 MEDLINE  
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[PMID]:28453695
[Au] Autor:Suenaga M; Schirripa M; Cao S; Zhang W; Yang D; Murgioni S; Rossini D; Marmorino F; Mennitto A; Ning Y; Okazaki S; Berger MD; Miyamoto Y; Gopez R; Barzi A; Yamaguchi T; Loupakis F; Lenz HJ
[Ad] Endereço:Department of Medical Oncology, Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, USA.
[Ti] Título:Genetic variants of DNA repair-related genes predict efficacy of TAS-102 in patients with refractory metastatic colorectal cancer.
[So] Source:Ann Oncol;28(5):1015-1022, 2017 05 01.
[Is] ISSN:1569-8041
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Background: Tri-phosphorylated trifluridine (FTD) incorporation into DNA is TAS-102's main anti-tumor action. We tested whether genetic polymorphisms in homologous recombination (HR) and cell cycle checkpoint pathway for DNA repair is associated with outcomes in refractory metastatic colorectal cancer (mCRC) patients treated with TAS-102. Patients and methods: We analyzed genomic DNA extracted from 233 samples of three cohorts: an evaluation cohort of 52 patients receiving TAS-102, a validation cohort of 129 patients receiving TAS-102 and a control cohort of 52 patients receiving regorafenib. Single nucleotide polymorphisms of genes involved in HR (ATM, BRCA1, BRCA2, XRCC3, FANCD2, H2AX, RAD51) and cell cycle checkpoint (ATR, CHEK1, CHEK2, CDKN1A, TP53, CHE1, PIN1, PCNA) were analyzed by PCR-based direct sequencing. Results: In univariate analysis for the evaluation cohort, patients with any G allele in ATM rs609429 had longer overall survival (OS) than those with the C/C variant (8.7 vs. 4.4 months, HR 0.37, 95% CI: 0.14-0.99, P = 0.022). Patients carrying any A allele in XRCC3 rs861539 had significantly longer progression-free survival (PFS) (3.8 vs. 2.3 months, HR 0.44, 95% CI: 0.21-0.92, P = 0.024) and OS (15.6 vs. 6.3 months, HR 0.25, 95% CI: 0.08-0.79, P = 0.012) than those with the G/G variant. In multivariable analysis, ATM rs609429 remained significant for OS (P = 0.020). In the validation cohort, patients having ATM rs609429 with any G allele showed longer OS and PFS; the G/A variant in XRCC3 rs861539 showed longer OS, though without statistical significance. Conclusion: Genetic variants in the HR pathway may predict clinical outcome in mCRC patients receiving TAS-102.
[Mh] Termos MeSH primário: Antineoplásicos/uso terapêutico
Neoplasias Colorretais/genética
Enzimas Reparadoras do DNA/genética
Neoplasias Hepáticas/genética
Trifluridina/uso terapêutico
Uracila/análogos & derivados
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
Antineoplásicos/farmacologia
Neoplasias Colorretais/tratamento farmacológico
Neoplasias Colorretais/mortalidade
Neoplasias Colorretais/patologia
Intervalo Livre de Doença
Combinação de Medicamentos
Resistência a Medicamentos Antineoplásicos/genética
Feminino
Estudos de Associação Genética
Seres Humanos
Neoplasias Hepáticas/tratamento farmacológico
Neoplasias Hepáticas/mortalidade
Neoplasias Hepáticas/secundário
Masculino
Meia-Idade
Compostos de Fenilureia/farmacologia
Compostos de Fenilureia/uso terapêutico
Modelos de Riscos Proporcionais
Piridinas/farmacologia
Piridinas/uso terapêutico
Estudos Retrospectivos
Resultado do Tratamento
Trifluridina/farmacologia
Uracila/farmacologia
Uracila/uso terapêutico
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antineoplastic Agents); 0 (Drug Combinations); 0 (Phenylurea Compounds); 0 (Pyridines); 0 (TAS 102); 24T2A1DOYB (regorafenib); 56HH86ZVCT (Uracil); EC 6.5.1.- (DNA Repair Enzymes); RMW9V5RW38 (Trifluridine)
[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:170429
[St] Status:MEDLINE
[do] DOI:10.1093/annonc/mdx035


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[PMID]:28453699
[Au] Autor:Zhang L; Ye Y; Tu H; Hildebrandt MA; Zhao L; Heymach JV; Roth JA; Wu X
[Ad] Endereço:Department of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, USA.
[Ti] Título:MicroRNA-related genetic variants in iron regulatory genes, dietary iron intake, microRNAs and lung cancer risk.
[So] Source:Ann Oncol;28(5):1124-1129, 2017 05 01.
[Is] ISSN:1569-8041
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Background: Genetic variations in MicroRNA (miRNA) binding sites may alter structural accessibility of miRNA binding sites to modulate risk of cancer. This large-scale integrative multistage study was aimed to evaluate the interplay of genetic variations in miRNA binding sites of iron regulatory pathway, dietary iron intake and lung cancer (LC) risk. Patients and methods: The interplay of genetic variant, dietary iron intake and LC risk was assessed in large-scale case-control study. Functional characterization of the validated SNP and analysis of target miRNAs were performed. Results: We found that the miRNA binding site SNP rs1062980 in 3' UTR of Iron-Responsive Element Binding protein 2 gene (IREB2) was associated with a 14% reduced LC risk (P value = 4.9×10 - 9). Comparing to AA genotype, GG genotype was associated with a 27% reduced LC risk. This association was evident in males and ever-smokers but not in females and never-smokers. Higher level of dietary iron intake was significantly associated with 39% reduced LC risk (P value = 2.0×10 - 8). This association was only present in individuals with AG + AA genotypes with a 46% reduced risk (P value = 1.0×10 - 10), but not in GG genotype. The eQTL-analysis showed that rs1062980 significantly alters IREB2 expression level. Rs1062980 is predicted to alter a miR-29 binding site on IREB2 and indeed the expression of miR-29 is inversely correlated with IREB2 expression. Further, we found that higher circulating miR-29a level was significantly associated with 78% increased LC risk. Conclusion: The miRNA binding site SNP rs1062980 in iron regulatory pathway, which may alter the expression of IREB2 potentially through modulating the binding of miR-29a, together with dietary iron intake may modify risk of LC both individually and jointly. These discoveries reveal novel pathway for understanding lung cancer tumorigenesis and risk stratification.
[Mh] Termos MeSH primário: Ferro na Dieta/metabolismo
Neoplasias Pulmonares/genética
MicroRNAs/genética
Polimorfismo de Nucleotídeo Único
[Mh] Termos MeSH secundário: Estudos de Associação Genética
Loci Gênicos
Predisposição Genética para Doença
Seres Humanos
Neoplasias Pulmonares/metabolismo
Redes e Vias Metabólicas/genética
Fatores de Risco
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Iron, Dietary); 0 (MicroRNAs)
[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:170429
[St] Status:MEDLINE
[do] DOI:10.1093/annonc/mdx046



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