The Genetics of Atopic Dermatitis

Background Atopic dermatitis (AD) is a complex genetic disorder influenced by environmental factors. The mode of inheritance and genes involved are not clear. Results This report here is focusing on the current progress in searching the disease-susceptibility genes of AD via both the linkage studies and candidate gene approaches. Genome-wide linkage studies have identified multiple susceptibility loci on 3q and 17q. Candidate region linkage studies identify other susceptibility loci on 5q23–33, 11q13, and 13q12–14. At least 28 candidate genes have to date been verified in association studies, but only association with genes of interleukin (IL)-4, IL-13, IL-4RA, mast cell chymase, and serine protease inhibitor, kazal-type 5 have been replicated in more than two different studies. More halpotype tests and family-based association studies may help to shed more light for the candidate gene approach. Conclusion Determining the candidate susceptibility genes for AD is not only helping understanding the pathophysiology but also affecting the response to therapy, which is important in pharmacogenetics. The effect of environmental trigger may also have to be considered to elucidate the real face of the disease.