Three new eczema genes discovered

December 26, 2011
Three new eczema genes discovered

(Medical Xpress) -- Researchers from Children of the 90s at the University of Bristol, in collaboration with 22 other studies from across the world, have discovered three new genetic variants associated with the skin condition eczema, a chronic inflammatory disease that afflicts millions of patients around the world.

Previous research in Europeans had only identified two major genes, so this is a significant breakthrough that will help diagnose and treat the condition in the long term.

Two of the variants discovered are close to genes (OVOL1 and ACTL9) associated with the skin-barrier function (how porous skin is), while the third is in a region of the genome containing genes important for the immune system (IL4-KIF3A). Thus, the findings underline the importance of both of these in the development of the condition.

Eczema, which is largely an inherited condition, affects up to one in five children in the UK and other developed countries, with eight out of 10 cases occurring before a child reaches its fifth birthday. Most children undergo remission in early adolescence, but up to 50 per cent may have recurrences in adulthood. Sixty per cent of children who have a parent with eczema also have the condition, rising to 80 per cent when both parents have it. Eczema is commonly associated with , , asthma and a range of other diseases. Treatments are limited, which can result in chronic suffering and a heavy for patients and their families.

Speaking about the findings, which are published online ahead of print today [December 25] in , lead author, Dr Lavinia Paternoster, from the University of Bristol, 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 the University of Kiel, 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. Thus, this is the largest study of its kind on the genetics of eczema to date.

Previous research from Children of the 90s proposed that peanut allergy could be caused by the allergen infiltrating the skin (for example, through creams and lotions containing peanut oil), and confirmed that another skin-barrier gene, filaggrin, was strongly associated with in the population and also with peanut allergy.

Explore further: Childhood eczema and hay fever leads to adult allergic asthma

More information: Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis, is published online [25 December] in Nature Genetics.

Related Stories

Childhood eczema and hay fever leads to adult allergic asthma

April 15, 2011
( -- Children who have eczema, particularly when occurring with hay fever, are nine times more likely to develop allergic asthma in their 40s, a new study reveals.

Recommended for you

Scientists provide insight into genetic basis of neuropsychiatric disorders

July 21, 2017
A study by scientists at the Children's Medical Center Research Institute at UT Southwestern (CRI) is providing insight into the genetic basis of neuropsychiatric disorders. In this research, the first mouse model of a mutation ...

Scientists identify new way cells turn off genes

July 19, 2017
Cells have more than one trick up their sleeve for controlling certain genes that regulate fetal growth and development.

South Asian genomes could be boon for disease research, scientists say

July 18, 2017
The Indian subcontinent's massive population is nearing 1.5 billion according to recent accounts. But that population is far from monolithic; it's made up of nearly 5,000 well-defined sub-groups, making the region one of ...

Mutant yeast reveals details of the aberrant genomic machinery of children's high-grade gliomas

July 18, 2017
St. Jude Children's Research Hospital biologists have used engineered yeast cells to discover how a mutation that is frequently found in pediatric brain tumor high-grade glioma triggers a cascade of genomic malfunctions.

Late-breaking mutations may play an important role in autism

July 17, 2017
A study of nearly 6,000 families, combining three genetic sequencing technologies, finds that mutations that occur after conception play an important role in autism. A team led by investigators at Boston Children's Hospital ...

Newly discovered gene variants link innate immunity and Alzheimer's disease

July 17, 2017
Three new gene variants, found in a genome wide association study of Alzheimer's disease (AD), point to the brain's immune cells in the onset of the disorder. These genes encode three proteins that are found in microglia, ...


Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.