Neues zur genetischen epidemiologie des atopischen ekzems

Atopic eczema is a typical multifactorial trait, which arises on the basis of a complex interaction among multiple genes and their environment, and which is characterized by a high phenotype variability, incomplete penetrance and moderation through environmental influences. The identification of risk genes is of great importance to enhance the understanding of the underlying pathophysiologic mechanisms and to develop effective preventive and therapeutic approaches. In the past years there have been tremendous advances in knowledge on the variability of the human genome and molecular methods that have led to remarkable progress in complex trait genetics. The success of genetic studies depends upon the use of large and well-phenotyped cohorts and the ability to handle and analyse increasingly large and complex data sets, and to functionally validate observed disease associations. With the identification of loss-offunction mutations within the filaggrin (FLG) gene as most widely replicated strong skinspecific risk factors an important breakthrough could be achieved in allergy genetics. First results from whole genome studies suggest the presence of joint risk genes for chronic inflammatory barrier diseases. It is anticipated that the application of modern technologies will aid in the identification of further susceptibility loci for atopic eczema.