Service d'Hépato-Gastroentérologie, Centre Hospitalier Universitaire d'Angers et Laboratoire HIFIH, UPRES 3859, IFR 132, 4 rue Larrey 49933 Angers Cedex 9, France.
Clin Res Hepatol Gastroenterol. 2011 Jun;35 Suppl 1:S3-9. doi: 10.1016/S2210-7401(11)70002-X.
Chronic liver diseases lead to the accumulation of fibrosis in the liver with eventual progression to cirrhosis and its complications. However, there is a wide range of inter-individual variation in the liver fibrogenesis process, thus posing a challenge to physicians to identify patients with poor prognosis. As demographic and environmental factors only account for a small portion of fibrogenesis variability, host genetic factors have been suggested as playing an important role. Due to technical limitations, the first genetic studies were restricted to the evaluation of candidate genes having a known or supposed function in liver fibrogenesis. Recently, technological improvements have made it possible to study the whole human genome in a single scan. Genome-wide association studies have considerably heightened the interest in genetics as part of the study of liver fibrogenesis through their identification of previously unsuspected genes that are statistically associated with liver fibrosis. It is thus possible to determine new diagnostic or prognostic genetic markers for the management of patients with chronic liver diseases. Moreover, functional analyses of these genes may provide new insights into the pathophysiology of liver fibrogenesis.
慢性肝脏疾病导致肝脏纤维化的积累，最终导致肝硬化及其并发症。然而，肝脏纤维化过程在个体间存在广泛的差异，这给医生识别预后不良的患者带来了挑战。由于人口统计学和环境因素仅占纤维化变异性的一小部分，因此宿主遗传因素被认为起着重要作用。由于技术限制，第一项遗传研究仅限于评估已知或假定在肝纤维化中具有功能的候选基因。最近，技术的进步使得在单次扫描中研究整个人类基因组成为可能。全基因组关联研究通过鉴定与肝纤维化具有统计学关联的先前未被怀疑的基因，极大地提高了人们对遗传学作为肝纤维化研究一部分的兴趣。因此，有可能确定用于管理慢性肝脏疾病患者的新的诊断或预后遗传标志物。此外，对这些基因的功能分析可能为肝纤维化发生的病理生理学提供新的见解。
