Carulli Lucia
Lucia Carulli, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, 41126 Modena, Italy.
World J Gastroenterol. 2015 Jan 14;21(2):379-83. doi: 10.3748/wjg.v21.i2.379.
Cirrhosis is the main complication of chronic liver disease, leads to progressive liver function impairment and is the main risk factor for the development of liver cancer. Liver failure at endstage cirrhosis is associated with increased mortality with liver transplantation as the only possible treatment at this stage. The pathogenesis of liver cirrhosis is not completely elucidated. Although the common factors leading to liver injury, such as viral hepatitis, alcohol consume or fatty liver disease can be identified in the majority of patients a small percentage of patients have no apparent risk factors. Moreover given the same risk factors, some patients progress to cirrhosis whereas others have a benign course, the reason remains unclear. In order to develop new diagnostic and therapeutic tools, it is s essential to understand the pathogenesis of cirrhosis. The identification of genetic risk factors associated with cirrhosis is one of the possible approach to achieve these goal. In the past years several studies have supported the role of telomere shortening and cirrhosis. In the recent year several studies on the relation between several single nucleotide polymorphism (SNPs) and cirrhosis have been published; it has been proposed also a cirrhosis risk score based on seven SNPs. Also epidemiological studies on identical twins and in different ethnic groups have been supporting the importance of the role of genetic risk factors. Finally in the very recent years it has been suggested that telomere shortening may represent a genetic risk factor for the development of cirrhosis.
肝硬化是慢性肝病的主要并发症,会导致肝功能进行性损害,是肝癌发生的主要危险因素。终末期肝硬化的肝衰竭与死亡率增加相关,此时肝移植是唯一可能的治疗方法。肝硬化的发病机制尚未完全阐明。虽然在大多数患者中可以确定导致肝损伤的常见因素,如病毒性肝炎、酒精摄入或脂肪性肝病,但仍有一小部分患者没有明显的危险因素。此外,在相同的危险因素下,一些患者会发展为肝硬化,而另一些患者病情则呈良性,其原因尚不清楚。为了开发新的诊断和治疗工具,了解肝硬化的发病机制至关重要。识别与肝硬化相关的遗传危险因素是实现这些目标的可能途径之一。在过去几年中,多项研究支持了端粒缩短与肝硬化之间的关系。近年来,已发表了多项关于几种单核苷酸多态性(SNP)与肝硬化关系的研究;还提出了一种基于7个SNP的肝硬化风险评分。对同卵双胞胎和不同种族群体的流行病学研究也支持了遗传危险因素作用的重要性。最后,在最近几年,有人提出端粒缩短可能是肝硬化发生的一个遗传危险因素。