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首页> 外文期刊>Journal of cardiac failure >Implications of central venous catheters in patients with stage D heart failure who are stable but inotrope dependent.
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Implications of central venous catheters in patients with stage D heart failure who are stable but inotrope dependent.

机译:中心静脉导管对稳定但依托物依赖的D期心力衰竭患者的意义。

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摘要

Although we have obtained comprehensive catalogs of genetic risk loci that are linked to human diseases, little is known regarding how to devise a systematic strategy to integrate genetic study results with diverse biological resources. Such strategies will be crucial for providing novel insights into disease biology and for aiding drug discovery as an ultimate goal. Here we describe the current progress in this field using a pioneering example of large-scale genetic association studies on rheumatoid arthritis (RA), an autoimmune disease characterized by inflammation and destruction of joints. Through functional and bioinformatic annotations of risk single nucleotide polymorphisms (SNPs) and genes from >100 RA risk loci identified by genome-wide association study (GWAS) meta-analysis, we found novel biological insights into RA pathogenicity. Further, by integrating RA genetic findings with the complete catalog of approved drugs for RA and other diseases, we provide empirical data to indicate that human genetic-based approaches may be useful for supporting 'genetics-driven genomic drug discovery' efforts in complex human traits and suggest that further development of integrative approaches should be undertaken.
机译:尽管我们已经获得了与人类疾病相关的遗传风险基因座的综合目录,但对于如何设计一种系统的策略以将遗传研究结果与多种生物资源整合在一起的了解却很少。这样的策略对于提供对疾病生物学的新颖见解以及将药物开发作为最终目标至关重要。在这里,我们使用类风湿关节炎(RA)的大规模遗传关联研究的开创性示例来描述该领域的当前进展,类风湿关节炎是一种以炎症和关节破坏为特征的自身免疫性疾病。通过功能性和生物信息学注释风险单核苷酸多态性(SNPs)和通过全基因组关联研究(GWAS)荟萃分析确定的> 100个RA风险基因座中的基因,我们发现了RA致病性的新生物学见解。此外,通过将RA遗传学发现与RA和其他疾病的批准药物的完整目录整合在一起,我们提供了经验数据,表明基于人类遗传学的方法可能有助于支持“遗传学驱动的基因组药物发现”对复杂人类特征的研究并建议进一步发展综合方法。

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