Genomics and complex liver disease: Challenges and opportunities

Hepatology. 2006 Dec;44(6):1380-90. doi: 10.1002/hep.21453.

Abstract

The concept of genetic susceptibility in the contribution to human disease is not new. What is new is the emerging ability of the field of genomics to detect, assess, and interpret genetic variation in the study of susceptibility to development of disease. Deciphering the human genome sequence and the publication of the human haplotype map are key elements of this effort. However, we are only beginning to understand the contribution of genetic predisposition to complex liver disease through its interaction with environmental risk factors. In the coming decade, we anticipate the development of human studies to better dissect the genotype/phenotype relationship of complex liver diseases. This endeavor will require large, well-phenotyped patient populations of each disease of interest and proper study designs aimed at answering important questions of hepatic disease prognosis, pathogenesis, and treatment. Teamwork between patients, physicians, and genomics scientists can ensure that this opportunity leads to important biological discoveries and improved treatment of complex disease.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Cholangitis, Sclerosing / genetics
  • Cholesterol
  • Diseases in Twins / genetics
  • Environment
  • Fatty Liver / genetics
  • Forecasting
  • Gallstones / chemistry
  • Gallstones / genetics
  • Genetic Linkage
  • Genetic Predisposition to Disease / genetics*
  • Genome, Human*
  • Haplotypes
  • Hepatitis, Autoimmune / genetics
  • Humans
  • Liver Cirrhosis, Biliary / genetics
  • Liver Diseases / genetics*
  • Liver Diseases, Alcoholic / genetics

Substances

  • Cholesterol