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慢性肾脏病中的基因组学:这是前进的道路吗?

Genomics in CKD: Is This the Path Forward?

作者信息

Nadkarni Girish N, Horowitz Carol R

机构信息

Department of Medicine, Division of Nephrology, Icahn School of Medicine, New York, NY; Department of Population Health Science and Policy, Icahn School of Medicine, New York, NY; and Department of Medicine, Icahn School of Medicine, New York, NY.

Department of Medicine, Division of Nephrology, Icahn School of Medicine, New York, NY; Department of Population Health Science and Policy, Icahn School of Medicine, New York, NY; and Department of Medicine, Icahn School of Medicine, New York, NY.

出版信息

Adv Chronic Kidney Dis. 2016 Mar;23(2):120-4. doi: 10.1053/j.ackd.2016.01.017.

DOI:10.1053/j.ackd.2016.01.017
PMID:26979150
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4795469/
Abstract

Recent advances in genomics and sequencing technology have led to a better understanding of genetic risk in CKD. Genetics could account in part for racial differences in treatment response for medications including antihypertensives and immunosuppressive medications due to its correlation with ancestry. However, there is still a substantial lag between generation of this knowledge and its adoption in routine clinical care. This review summarizes the recent advances in genomics and CKD, discusses potential reasons for its underutilization, and highlights potential avenues for application of genomic information to improve clinical care and outcomes in this particularly vulnerable population.

摘要

基因组学和测序技术的最新进展使人们对慢性肾脏病(CKD)的遗传风险有了更深入的了解。由于遗传学与血统相关,它在一定程度上可以解释包括抗高血压药物和免疫抑制药物在内的药物治疗反应中的种族差异。然而,从产生这些知识到将其应用于常规临床护理之间仍存在很大差距。本综述总结了基因组学和CKD的最新进展,讨论了其未得到充分利用的潜在原因,并强调了应用基因组信息改善这一特别脆弱人群的临床护理和治疗结果的潜在途径。

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Prioritizing diversity in human genomics research.优先考虑人类基因组学研究中的多样性。
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本文引用的文献

1
Determining the effects and challenges of incorporating genetic testing into primary care management of hypertensive patients with African ancestry.确定将基因检测纳入具有非裔血统的高血压患者的初级保健管理中的效果和挑战。
Contemp Clin Trials. 2016 Mar;47:101-8. doi: 10.1016/j.cct.2015.12.020. Epub 2015 Dec 30.
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The IGNITE network: a model for genomic medicine implementation and research.IGNITE网络:基因组医学实施与研究的一个模型。
BMC Med Genomics. 2016 Jan 5;9:1. doi: 10.1186/s12920-015-0162-5.
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Representation of Patients With Kidney Disease in Trials of Cardiovascular Interventions: An Updated Systematic Review.心血管介入试验中肾病患者的代表性:一项更新的系统评价。
JAMA Intern Med. 2016 Jan;176(1):121-4. doi: 10.1001/jamainternmed.2015.6102.
4
APOL1 Genotype and Kidney Transplantation Outcomes From Deceased African American Donors.载脂蛋白L1(APOL1)基因型与非裔美国已故捐赠者的肾移植结果
Transplantation. 2016 Jan;100(1):194-202. doi: 10.1097/TP.0000000000000969.
5
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Genet Med. 2016 May;18(5):501-12. doi: 10.1038/gim.2015.118. Epub 2015 Sep 3.
6
Testing for High-Risk APOL1 Alleles in Potential Living Kidney Donors.检测潜在活体肾脏供者中的高危 APOL1 等位基因。
Am J Kidney Dis. 2015 Sep;66(3):396-401. doi: 10.1053/j.ajkd.2015.04.046. Epub 2015 Jun 3.
7
Physician Attitudes toward Adopting Genome-Guided Prescribing through Clinical Decision Support.临床决策支持下,医生对采用基于基因组学的处方的态度。
J Pers Med. 2014 Feb 27;4(1):35-49. doi: 10.3390/jpm4010035.
8
Genome-wide association study of kidney function decline in individuals of European descent.欧洲血统个体肾功能下降的全基因组关联研究。
Kidney Int. 2015 May;87(5):1017-29. doi: 10.1038/ki.2014.361. Epub 2014 Dec 10.
9
The need for clinical decision support integrated with the electronic health record for the clinical application of whole genome sequencing information.需要将临床决策支持与电子健康记录集成,以将全基因组测序信息应用于临床。
J Pers Med. 2013 Dec 18;3(4):306-25. doi: 10.3390/jpm3040306.
10
Next generation sequencing and the future of genetic diagnosis.下一代测序技术与基因诊断的未来。
Neurotherapeutics. 2014 Oct;11(4):699-707. doi: 10.1007/s13311-014-0288-8.