慢性肾脏疾病的基因组生物标志物:迈向个体化医疗的第一步?

Jingyuan Cao, Le-ting Zhou, Bi-Cheng Liu
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引用次数: 0

摘要

随着终末期肾脏疾病的患病率稳步上升,慢性肾脏疾病(CKD)是一个迫在眉睫的公共卫生挑战。CKD的经典诊断生物标志物,包括肌酐,具有较低的敏感性和特异性。因此,迫切需要针对早期进展高风险患者的新型诊断和预后生物标志物。个性化医疗方法通常根据患者的生物学或基因组组成对患者进行分层。有针对性的临床试验需要更精确地识别这些亚群。随着基因组学、蛋白质组学和代谢组学研究中使用生物体液和肾活检组织的计算能力的巨大提高,通过高通量技术获得的新生物标志物的使用有望在未来得到应用。基因组生物标志物不仅可以提供关于CKD病因和机制的额外信息,还可以帮助早期诊断和选择合适的药物,从而个性化治疗。本文综述了基因组医学中常用的研究方法,总结了目前遗传和获得性CKD的基因组生物标志物。
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Genomic biomarkers for chronic kidney disease: the first step towards personalized medicine?
With the prevalence of end stage renal disease steadily increasing, chronic kidney disease (CKD) represents an impending public healthcare challenge. Classical diagnostic biomarkers of CKD, including creatinine, have low sensitivity and specificity. Thus, novel diagnostic and prognostic biomarkers for patients at high risk of early-stage progression are urgently needed. Personalized medicine approaches generally stratify patients according to their biological or genomic make-up. Targeted clinical trials require more precise identification of these subgroups. The use of new biomarkers obtained via high-throughput technologies is expected in future, accompanied by vast improvements in computational power applied in genomics, proteomics, and metabolomics studies using biological fluids and renal biopsy tissue. Genomic biomarkers may not only provide additional information regarding the etiology and mechanisms underlying CKD progression, but may also enable early diagnosis and the selection of appropriate drugs, thereby personalizing therapy. This review discusses commonly used research methods in genomic medicine and summarizes currently available genomic biomarkers in inherited and acquired CKD.
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