Published online Jan 14, 2015. doi: 10.3748/wjg.v21.i2.379
Peer-review started: October 9, 2014
First decision: October 29, 2014
Revised: November 4, 2014
Accepted: December 1, 2014
Article in press: December 21, 2014
Published online: January 14, 2015
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.
Core tip: Common risk factors leading to chronic liver injury can be identified in most patients with cirrhosis, but approximately 5% of patients have no apparent risk factors. Understanding the pathogenesis of cirrhosis formation is essential to develop new diagnostic and therapeutic tools and for its prevention. The identification of genetic risk factors associated with cirrhosis is one of the possible way to approach this issue. Evidence supporting the role of genetic risk factors has been accumulating during the past years and recently it has been also suggested that telomere shortening may represent a genetic risk factor.