Date Published: 28 December 2011
Three new eczema genes discovered
Three new genetic variants associated with the skin condition eczema, a chronic inflammatory disease that afflicts millions of patients around the world, have recently been identified as a result of research carried out at Bristol University (England, UK) in collaboration with 22 other studies from across the world.
Previous research in Europeans had only identified two major genes. The results of the recent work therefore constitute a significant breakthrough that may help to diagnose and treat eczema in the future.
Two of the recently discovered genetic variants associated with eczema are close to genes (OVOL1 and ACTL9) associated with the skin-barrier function (i.e. how porous skin is). The third recently discovered genetic variant associated with eczema is in a region of the genome containing genes important for the immune system (IL4-KIF3A). This research therefore emphasizes the importance of both the Integumentary System (Skin) and the Immune System in the development of eczema.
Facts and statistics about eczema :
Eczema, which is largely an inherited condition, affects up to one in five (20%) children in the UK and other developed countries, with 80% of cases occurring before a child reaches the age of 5 years . Most children undergo remission in early adolescence, but up to 50% may have recurrences in adulthood. 60% of children who have a parent with eczema also have eczema themselves, rising to 80% if both parents have eczema. Eczema is commonly associated with food allergy, hay fever, asthma, among other common conditions.
Speaking about the findings, which are published online in Nature Genetics, lead author, Dr Lavinia Paternoster, from Bristol University, said:
" Eczema has lagged behind other common diseases, in terms of the number of genes discovered that predispose us to the condition. Our study is, to date, the largest study in eczema that attempts to identify which genes play a role. There is still a lot of work to do, but these findings indicate which biological mechanisms are important in this condition and are an important step towards improving diagnosis, management and treatment for eczema sufferers."
Lead senior author and dermatologist, Professor Stephan Weidinger from Kiel University, Germany, added:
" Two disease genes that we found have never been associated with atopic dermatitis until now, while one has been implicated in asthma, reflecting the close relationship between the two diseases. Our findings will not immediately lead to genetic tests to predict who will develop eczema or to new ways of treatment, but they are an important step forward in this context."
The research was carried out on around 10,000 cases and 40,000 controls from population-based studies in the UK, Europe, Australia and North America to identify genetic variants from across the entire genome that were associated with eczema. This is the largest study of its kind on the genetics of eczema.
Ref to Paper:
Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis, published online in Nature Genetics.
University, England (UK)