UQ researchers lead largest ever genetic study of eczema: ten new genes identified

Professor David Evans, Head of the Genomic Medicine Program and statistical geneticist at UQ’s Diamantina Institute has joined forces with an international team of researchers, to conduct the world’s largest ever genetic investigation into the causes of eczema.

Eczema is a common inflammatory skin disease that affects 1 in 5 Australians, and while in some patients the condition can be controlled, there is currently no known cure. In addition, many patients with eczema will also go on to suffer from other allergic diseases later in life including allergic rhinitis and asthma, a process known as the atopic march.

The international research team led by Professor David Evans and Dr Lavinia Paternoster (University of Bristol) combined information from 26 studies from around the world, involving 20,000 eczema cases and 95,000 controls, and have produced the largest eczema genome-wide association study (GWAS) to date and one of the largest GWAS of any disease so far.

The research team successfully identified 10 new genes involved in eczema pathology. The results also demonstrated a large cross-over between the genetics of eczema and inflammatory bowel disease, suggesting common biological pathways underlying the two disorders.

Many of the new genes were involved in immunity and inflammation, and have previously been associated with other immune-mediated diseases. An exception was an association within a gene called Langerin. The Langerin gene produces a receptor molecule that sits on the surface of Langerhan’s cells (a type of antigen presenting dendritic cell that resides in the skin), which binds sugar molecules derived from bacteria and presents these antigens to the immune system. This gene has never been associated with a common immune-mediated disease and may represent a promising target for new pharmacotherapies. The investigators concluded that while break down of the skin barrier was an important contributor to eczema pathogenesis, the new findings provided compelling evidence for the role of immune responses in the development of eczema and strongly supported the idea that therapeutic approaches directed at immune modulation should also be investigated.

The study was published in Nature Genetics.