Integrated genomics and metabolomics in nephrology
Integrated genomics and metabolomics in nephrology
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DOI：
10.1093/ndt/gft492
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发表时间：
2014-08-01
影响因子：
6.1
通讯作者：
Zeller, Tanja
中科院分区：
文献类型：
--
作者：
Atzler, Dorothee;Schwedhelm, Edzard;Zeller, Tanja
应用“组学”方法，如全基因组关联研究（GWAS）和代谢组学分析，基因和代谢物已被确定为与肾脏病理生理学相关。来自大型流行病学队列的GWAS荟萃分析发现了几个与估计肾小球滤过率和慢性肾病（CKD）相关的新位点。先进的分析技术，包括质谱法和核磁共振光谱法，可以分析血浆、血清和尿液中多达4000种靶向和非靶向代谢物。发现几种尿毒症毒素在CKD中增加。其中，精氨酸衍生物如不对称二甲基精氨酸或精氨酸代谢物已被确定为靶向肾脏疾病进展机制的有希望的候选物。这篇综述的目的是总结最近的发现在临床肾脏疾病的研究揭示了“组学”的方法，明确的重点是最近的基因组学和代谢组学的努力。
Applying 'omics' approaches such as genome-wide association studies (GWAS) and metabolome analyses, genes and metabolites have been identified to be associated with renal pathophysiology. Meta-analyses of GWAS from large epidemiologic cohorts uncovered several novel loci linked with estimated glomerular filtration rate and chronic kidney disease (CKD). Sophisticated analytical technologies, including mass spectrometry and nuclear magnetic resonance spectroscopy, allow the analyses of up to 4000 targeted and non-targeted metabolites in plasma, serum and urine. Several uraemic toxins were found that were increased in CKD. Among them, arginine derivatives like asymmetric dimethylarginine or tryptophane metabolites have been identified as promising candidates to target mechanisms of kidney disease progression. This review aims to summarize recent findings in clinical kidney diseases research revealed by 'omics' approaches with a clear focus on recent genomics and metabolomics efforts.