State-of-the-Art Lecture: Genetics and genomics: implications for clinical practice

摘要

Genetic predisposition contributes to the pathogenesis of most common diseases and several genes have been identified. Evidence for other susceptibility loci is also strong. Thus, the polygenic nature of inflammatory chronic diseases has been confirmed, but this does not follow Mendel's rules. The genes so far identified in Crohn's disease are involved in bacterial sensing such as CARD15. Others are in the scaffolding of the intestinal epithelial cells, or in the transport of cations1"3 or in the production of defensins.