RESUMO
Advances in sequencing technologies have led to the rapid growth of multi-omics data on rheumatoid arthritis (RA). However, a comprehensive database that systematically collects and classifies the scattered data is still lacking. Here, we developed the Rheumatoid Arthritis Bioinformatics Center (RABC, http://www.onethird-lab.com/RABC/), the first multi-omics data resource platform (data hub) for RA. There are four categories of data in RABC: (i) 175 multi-omics sample sets covering transcriptome, epigenome, genome, and proteome; (ii) 175 209 differentially expressed genes (DEGs), 105 differentially expressed microRNAs (DEMs), 18 464 differentially DNA methylated (DNAm) genes, 1 764 KEGG pathways, 30 488 GO terms, 74 334 SNPs, 242 779 eQTLs, 105 m6A-SNPs and 18 491 669 meta-mQTLs; (iii) prior knowledge on seven types of RA molecular markers from nine public and credible databases; (iv) 127 073 literature information from PubMed (from 1972 to March 2022). RABC provides a user-friendly interface for browsing, searching and downloading these data. In addition, a visualization module also supports users to generate graphs of analysis results by inputting personalized parameters. We believe that RABC will become a valuable resource and make a significant contribution to the study of RA.
Assuntos
Artrite Reumatoide , Bases de Dados Factuais , Humanos , Artrite Reumatoide/genética , Biomarcadores/metabolismo , Biologia Computacional/métodos , Metilação de DNA/genética , Perfilação da Expressão Gênica/métodos , TranscriptomaRESUMO
Changes in the structure of RNA and protein, have an important impact on biological functions and are even important determinants of disease pathogenesis and treatment. Some genetic variations, including copy number variation, single nucleotide variation, and so on, can lead to changes in biological function and increased susceptibility to certain diseases by changing the structure of RNA or protein. With the development of structural biology and sequencing technology, a large amount of RNA and protein structure data and genetic variation data resources has emerged to be used to explain biological processes. Here, we reviewed the effects of genetic variation on the structure of RNAs and proteins, and investigated their impact on several diseases. An online resource (http://www.onethird-lab.com/gems/) to support convenient retrieval of common tools is also built. Finally, the challenges and future development of the effects of genetic variation on RNA and protein were discussed.
Assuntos
Variações do Número de Cópias de DNA , RNA , RNA/genética , Proteínas/químicaRESUMO
Risk prediction and disease prevention are the innovative care challenges of the 21st century. Apart from freeing the individual from the pain of disease, it will lead to low medical costs for society. Until very recently, risk assessments have ushered in a new era with the emergence of omics technologies, including genomics, transcriptomics, epigenomics, proteomics, and so on, which potentially advance the ability of biomarkers to aid prediction models. While risk prediction has achieved great success, there are still some challenges and limitations. We reviewed the general process of omics-based disease risk model construction and the applications in four typical diseases. Meanwhile, we highlighted the problems in current studies and explored the potential opportunities and challenges for future clinical practice.
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We aimed to evaluate whether the buddy balloon technique (BBT) is superior to the buddy wire technique (BWT) with regard to the accuracy of stent placement during percutaneous coronary intervention (PCI).We enrolled patients who had been identified with significant stent movement before the stent was dilated at five hospitals and were randomly converted to either the BBT or BWT technique. The primary endpoints were the incidence of technical success and major adverse cardiovascular events (cardiac death, myocardial infarction, target lesion revascularization, and in-stent restenosis) at 2 years of follow-up. The secondary endpoints were the contrast volume used for the procedure and the total procedural time.From August 2018 to July 2019, 66 patients were enrolled, with 33 patients in each group. All patients were successfully followed up to 2 years. At the primary endpoints, compared with patients treated using BWT, those in the BBT group showed significantly better technical success (93.94% versus 39.39%, respectively; P < 0.0001). There was no significant difference in the incidence of major cardiovascular adverse events (6.06% versus 12.12%, respectively; P = 0.392). At the secondary endpoints, the contrast volume used for the procedure was lower with BBT (85.97 ± 22.45 versus 115.00 ± 21.45 mL, respectively; P < 0.0001); similarly, the total procedural time was shorter with BBT (65.94 ± 12.14 versus 74.33 ± 15.36 minutes, respectively; P < 0.0001).BBT could better restrict stent movement and facilitate precise stent deployment, with significant superiority over BWT. In addition, BBT can reduce the procedural time and contrast dose.
Assuntos
Angioplastia Coronária com Balão , Intervenção Coronária Percutânea , Stents , Angioplastia Coronária com Balão/métodos , Angiografia Coronária , Reestenose Coronária/etiologia , Humanos , Infarto do Miocárdio/etiologia , Intervenção Coronária Percutânea/efeitos adversos , Stents/efeitos adversos , Resultado do TratamentoRESUMO
N6-methyladenosine (m6A) is one of the most abundant chemical modifications on RNA and can affect the occurrence and development of diseases. Some studies have shown that the expressions of some m6A-related genes are significantly regulated by single nucleotide variants (SNV). However, the function of m6A-associated single nucleotide polymorphisms (m6A-SNP) remains unclear in multiple sclerosis (MS), Alzheimer's disease (AD) and Parkinson's disease (PD). Here, we identified the disease-associated m6A-SNPs by integrating genome-wide association study (GWAS) and m6A-SNPs from the RMVar database, and confirmed the relationship between these identified m6A-SNPs and their target genes in eQTL analysis and gene differential expression analysis. Finally, 26 genes corresponding to 20 m6A-SNPs with eQTL signals were identified and differentially expressed (P < 0.05) in MS, 15 genes corresponding to 12 m6A-SNPs (P < 1e-04) were differentially expressed in AD, and 27 PD-associated m6A-SNPs that regulated the expression of 31 genes were identified. There were 5 HLA genes with eQTL signals (HLA-DQB1, HLA-DRB1, HLA-DQA1, HLA-DQA2 and HLA-DQB1-AS1) to be detected in the three diseases. In summary, our study provided new insights into understanding the potential roles of these m6A-SNPs in disease pathogenesis as well as therapeutic target.