Department of Medicine II, Saarland University Hospital, Saarland University, Kirrberger Str., 66421 Homburg, Germany.
Best Pract Res Clin Gastroenterol. 2011 Apr;25(2):269-80. doi: 10.1016/j.bpg.2011.02.007.
Recent years have seen unprecedented progress in the identification and characterization of genetic information related to chronic liver diseases (CLDs). However, despite the conceptual benefit in early recognition of at-risk populations amenable to pre-emptive treatment and/or surveillance strategies, recent genomic research in the field has placed focus on unravelling the genetic architecture of disease susceptibility, while data on genetic markers anticipating an accelerated fibrogenesis in an individual are still limited. Likewise, sequence variation assigning rapid fibrogenic evolution common to CLDs irrespective of etiology are poorly defined aside from PNPLA3 (adiponutrin) as a prominent exception. The emerging field of epigenetics in hepatology has mostly been studied under the perspective of gene regulation, less so as a heritable alteration in gene activity. In this article we will critically discuss recent findings in genomic hepatology with special focus on the (epi)genetic contribution to the fibrogenic evolution of CLDs.
近年来，在鉴定和描述与慢性肝病（CLD）相关的遗传信息方面取得了前所未有的进展。然而，尽管在早期识别易患疾病的高危人群方面具有概念上的优势，这些人群适合进行预防性治疗和/或监测策略，但该领域最近的基因组研究重点是揭示疾病易感性的遗传结构，而关于能够预测个体肝纤维化加速的遗传标志物的数据仍然有限。同样，除了 PNPLA3（脂肪酶）作为一个突出的例外，除了病因之外，赋予 CLD 快速纤维发生进化的序列变异仍然定义不明确。肝科学领域的新兴表观遗传学领域主要是从基因调控的角度进行研究，而作为基因活性的可遗传改变则研究较少。在本文中，我们将批判性地讨论基因组肝科学的最新发现，特别关注（表观遗传学）对 CLD 纤维发生演变的遗传贡献。
