Large-scale Japanese genomics project finds eight new loci linked to atopic dermatitis

February 22, 2013
Skin affected by atopic dermatitis. Credit: 2012 iStockphoto/Thinkstock

Around one in ten Japanese school children suffer from a debilitating form of eczema known as atopic dermatitis (AD). Despite clear signs that the condition is heritable, the genetic origins of the disease have remained elusive. Now, in a study of about 3,300 Japanese individuals with AD and some 15,000 unaffected controls, researchers have discovered eight new loci with ties to the chronic inflammatory skin disorder, a finding that could lead to new treatment options, particularly for Japanese people.

"Further investigation of the susceptible loci of atopic dermatitis could lead to the development of new therapeutic treatments," says Mayumi Tamari of the RIKEN Center for Genomic Medicine in Yokohama, who led the study.

People with AD typically suffer from persistent, itchy and flaky rashes covering many parts of the body. When two parents have AD, their offspring have a 70% risk of also developing the disease, with a mode of inheritance that appears to be complex, involving several genes.

To find those genes, Tamari and her colleagues decoded more than 600,000 single spread across the entire of their Japanese cohort. Other research teams working with individuals from China and Europe had previously reported seven susceptibility loci for AD. These cropped up in the Japanese group's analysis, too. However, Tamari's team also discovered eight newly identified risk loci in the Japanese population. These included genes implicated in innate-acquired immunity, inflammation and skin-related protection, as well as parts of the genome associated with asthma and other allergies.

For example, one of these associated loci contained IL1RL1, an interleukin cytokine receptor gene. IL1RL1 is expressed by T- and in the skin, and this region has also been identified recently as a susceptibility locus for . This finding makes sense, notes Tamari, as more than 50% of children with severe atopic dermatitis also suffer from asthma and approximately 75% also have allergic rhinitis.

Topical steroids and the immunosuppressive agent tacrolimus are currently the mainstays of AD treatment. However, these therapeutic agents don't work for everybody, and researchers have been on the hunt for new treatment options.

Interestingly, the researchers found a susceptibility locus on chromosome 20 that includes CYP24A1, a gene which is involved in vitamin D metabolism. Considering that vitamin D ointment is commonly used to relieve some of the dry skin symptoms associated with psoriasis, Tamari says that clinical studies should be conducted to see whether vitamin D ointment is effective for .

Explore further: Genome-wide study identifies eight new susceptibility loci for atopic dermatitis

More information: Hirota, T., et al. Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population. Nature Genetics 44, 1222–1226 (2012). … 11/full/ng.2438.html

Related Stories

Genome-wide study identifies eight new susceptibility loci for atopic dermatitis

October 7, 2012
Japanese researchers at the RIKEN Center for Genomic Medicine (CGM) and their colleagues have identified 8 new loci associated with susceptibility to atopic dermatitis in the Japanese population. The findings, which appear ...

Pinpointing asthma susceptibility in Japanese adults

December 22, 2011
A team of geneticists has identified five specific gene regions associated with asthma susceptibility among Japanese adults. Mayumi Tamari of the RIKEN Center for Genomic Medicine, Yokohama, led the research.

Genome-wide study reveals 3 new susceptibility loci for adult asthma in Japanese population

July 31, 2011
Researchers at the RIKEN Center for Genomic Medicine (CGM), together with colleagues at Kyoto University, Tsukuba University, Harvard University, and other medical institutions have identified three new loci associated with ...

Itching for new help for eczema: Recently identified immune cells possible therapeutic target

January 30, 2013
Researchers have identified a previously unknown critical role for a recently identified immune cell population in the progression of atopic dermatitis. The team found an accumulation of innate lymphoid cells in the active ...

Perceived stress linked to asthma, atopic disorders

September 21, 2012
(HealthDay)—Perceived stress correlates with an increased risk of adult-onset asthma, allergic rhinitis, and atopic dermatitis as well as asthma medication use, according to a study published online Sept. 3 in Allergy.

Recommended for you

Genome analysis with near-complete privacy possible, say researchers

August 17, 2017
It is now possible to scour complete human genomes for the presence of disease-associated genes without revealing any genetic information not directly associated with the inquiry, say Stanford University researchers.

Science Says: DNA test results may not change health habits

August 17, 2017
If you learned your DNA made you more susceptible to getting a disease, wouldn't you work to stay healthy?

Genetic variants found to play key role in human immune system

August 16, 2017
It is widely recognized that people respond differently to infections. This can partially be explained by genetics, shows a new study published today in Nature Communications by an international collaboration of researchers ...

Phenotype varies for presumed pathogenic variants in KCNB1

August 16, 2017
(HealthDay)—De novo KCNB1 missense and loss-of-function variants are associated with neurodevelopmental disorders, with or without seizures, according to a study published online Aug. 14 in JAMA Neurology.

Active non-coding DNA might help pinpoint genetic risk for psychiatric disorders

August 16, 2017
Northwestern Medicine scientists have demonstrated a new method of analyzing non-coding regions of DNA in neurons, which may help to pinpoint which genetic variants are most important to the development of schizophrenia and ...

Evolved masculine and feminine behaviors can be inherited from social environment

August 15, 2017
The different ways men and women behave, passed down from generation to generation, can be inherited from our social environment - not just from genes, experts have suggested.


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.