Epigenetic Mechanisms and Nephrotic Syndrome: A Systematic Review.
Epigenetic Mechanisms and Nephrotic Syndrome: A Systematic Review.
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表观遗传机制和肾病综合征：系统评价。
DOI：
10.3390/biomedicines11020514
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发表时间：
2023-02-10
期刊：
影响因子：
4.7
通讯作者：
Saleem, Moin A.
中科院分区：
文献类型：
--
作者：
Hayward, Samantha;Parmesar, Kevon;Welsh, Gavin I.;Suderman, Matthew;Saleem, Moin A.
关键词：
一小部分肾病综合征（NS）患者患有遗传性疾病。然而，其余大多数的疾病机制尚不清楚。表观遗传标记是基因表达的可逆但稳定的调节剂，可用作生物标志物和治疗靶点。我们的目的是确定和评估所有已发表的人类研究NS的表观遗传机制。在PubMed（MEDLINE）和Embase中检索原始研究文章，检查从类固醇耐药NS、类固醇敏感NS、局灶节段性肾小球硬化或微小病变疾病患者中收集的样本中的任何表观遗传机制。研究质量评估使用乔安娜布里格斯研究所的关键评价工具。49项研究符合我们的纳入标准。其中大多数检查了micro-RNA（n = 35，71%）。研究质量很低，只有23个被认为是较高质量的，其中大多数包括不到100名患者，并且未能验证第二队列的结果。然而，研究之间存在一些有希望的一致结果;与对照组相比，NS中观察到血清miR-191和miR-30 c以及尿miR-23 b-3 p和miR-30 a-5 p水平较高。我们已经确定，表观基因组，特别是DNA甲基化和组蛋白修饰，已在NS研究不足。利用最新高通量技术和分析管道的大型临床研究应专注于解决文献中的这一关键空白。
A small subset of people with nephrotic syndrome (NS) have genetically driven disease. However, the disease mechanisms for the remaining majority are unknown. Epigenetic marks are reversible but stable regulators of gene expression with utility as biomarkers and therapeutic targets. We aimed to identify and assess all published human studies of epigenetic mechanisms in NS. PubMed (MEDLINE) and Embase were searched for original research articles examining any epigenetic mechanism in samples collected from people with steroid resistant NS, steroid sensitive NS, focal segmental glomerulosclerosis or minimal change disease. Study quality was assessed by using the Joanna Briggs Institute critical appraisal tools. Forty-nine studies met our inclusion criteria. The majority of these examined micro-RNAs (n = 35, 71%). Study quality was low, with only 23 deemed higher quality, and most of these included fewer than 100 patients and failed to validate findings in a second cohort. However, there were some promising concordant results between the studies; higher levels of serum miR-191 and miR-30c, and urinary miR-23b-3p and miR-30a-5p were observed in NS compared to controls. We have identified that the epigenome, particularly DNA methylation and histone modifications, has been understudied in NS. Large clinical studies, which utilise the latest high-throughput technologies and analytical pipelines, should focus on addressing this critical gap in the literature.
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