Norwegian PSC Research Center and Section for Gastroenterology, Department of Transplantation Medicine, Division of Cancer Medicine, Surgery and Transplantation, Oslo University Hospital, Rikshospitalet, Oslo, Norway; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Department of Medicine II, Saarland University Medical Center, Homburg, Germany; Saarland University, Saarbrücken, Germany.
J Hepatol. 2015 Apr;62(1 Suppl):S6-S14. doi: 10.1016/j.jhep.2015.02.025.
Paralleling the first 30 years of the Journal of Hepatology we have witnessed huge advances in our understanding of liver disease and physiology. Genetic advances have played no small part in that. Initial studies in the 1970s and 1980s identified the strong major histocompatibility complex associations in autoimmune liver diseases. During the 1990 s, developments in genomic technologies drove the identification of genes responsible for Mendelian liver diseases. Over the last decade, genome-wide association studies have allowed for the dissection of the genetic susceptibility to complex liver disorders, in which also environmental co-factors play important roles. Findings have allowed the identification and elaboration of pathophysiological processes, have indicated the need for reclassification of liver diseases and have already pointed to new disease treatments. In the immediate future genetics will allow further stratification of liver diseases and contribute to personalized medicine. Challenges exist with regard to clinical implementation of rapidly developing technologies and interpretation of the wealth of accumulating genetic data. The historical perspective of genetics in liver diseases illustrates the opportunities for future research and clinical care of our patients.
与《肝脏病学杂志》创刊的头 30 年相呼应，我们见证了在肝脏疾病和生理学认知方面的巨大进步。遗传进展在此过程中起到了重要作用。20 世纪 70 年代和 80 年代的初步研究确定了自身免疫性肝病中主要组织相容性复合体的强烈关联。90 年代，基因组技术的发展推动了对孟德尔肝脏疾病相关基因的鉴定。在过去的十年中，全基因组关联研究使得复杂肝脏疾病遗传易感性的解析成为可能，其中环境共同因素也起着重要作用。这些发现不仅有助于确定和阐述病理生理过程，还表明需要重新分类肝脏疾病，并已为新的疾病治疗指明了方向。在不久的将来，遗传学将进一步对肝脏疾病进行分层，并有助于实现个体化医疗。然而，在快速发展的技术的临床实施和对积累的大量遗传数据的解释方面，仍存在挑战。遗传在肝脏疾病中的历史视角说明了未来研究和为患者提供临床治疗的机会。
