For the first time scientists have identified ten
new genetic variants that cause eczema and which
biological signals - communication pathways between
cells - these genes affect. They have also examined
what effect these biological signals have on other
diseases.
The new research shows that many of the genetic
defects that lead to development of eczema are also
present in people who develop autoimmune diseases
such as psoriasis, and the inflammatory bowel
disease Chron’s.
In an autoimmune disease like psoriasis, the skin
can become hypersensitive, and react to either
bacteria or viruses that are naturally present in
the skin.
This is due to a signalling pathway that prevents
the immune system from functioning as it should. In
the new study, this very same signalling pathway was
affected by the genetic variants identified in
patients with eczema.
Genetic association studies have identified 21 loci
associated with atopic dermatitis risk predominantly
in populations of European ancestry.
To identify further susceptibility loci for this
common, complex skin disease, researchers performed
a meta-analysis of >15 million genetic variants in
21,399 cases and 95,464 controls from populations of
European, African, Japanese and Latino ancestry,
followed by replication in 32,059 cases and 228,628
controls from 18 studies.
Researchers identified ten new risk loci, bringing
the total number of known atopic dermatitis risk
loci to 31 (with new secondary signals at four of
these loci).
Notably, the new loci include candidate genes with
roles in the regulation of innate host defenses and
T cell function, underscoring the important
contribution of (auto)immune mechanisms to atopic
dermatitis pathogenesis.
For more information
Nature genetics
Multi-ancestry genome-wide association study of
21,000 cases and 95,000 controls identifies new risk
loci for atopic dermatitis
Nature Genetics 47, 1449–1456 (2015)
doi:10.1038/ng.3424
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