Researchers from the Catholic University of Korea Seoul St. Mary’s Hospital have become the first in the world to find an association between a mutation of the filaggrin (FLG) gene and atopic dermatitis (AD).

From left: Professors Kim Yong-goo, Kim Myung-shin, and Park Young-min from the Catholic University of Korea Seoul St. Mary’s Hospital

The research team, led by professors Kim Yong-goo and Kim Myung-shin from the hospital’s Catholic Genetic Laboratory Center and Park Young-min from the department of dermatology, published their findings on the study of 81 people with atopic dermatitis in the December edition of PLOS ONE.

“Since the substances that cause atopic dermatitis, an allergic disease, vary from person to person, this study - which found gene mutations associated with atopic dermatitis and demonstrates the association of them with clinical features – will open the era of precision medicine and customized treatment for individual patients,” Professor Kim Myung-shin said.

He said atopic dermatitis is a complex disease that depends on genes and environmental factors and cannot be explained by a single gene. Atopic dermatitis, also known as eczema, is a condition that makes skin red and itchy and is a chronic skin condition that tends to flare up periodically.

The researchers studied and analyzed the sequence listing of the FLG gene of people with atopic dermatitis to identify FLG single nucleotide variations (FLG-SNVs) and evaluate the correlation between FLG-SNVs with clinical features of atopic dermatitis. The study also looked at the relationship between FLG-SNVs and the presence of specific allergic sensitization as well as serum parameters.

Analysis of the 81 FLG genes resulted in the finding of 73 single nucleotide variations (SNVs) with one base mutation and four loss-of-function (LOF) mutations with damaged gene functions, indicating that most people with AD had a single nucleotide mutation of the FLG gene.

The study also found mutations with codenames of rs62623409 and rs71625199 were associated with sensitization to environmental allergens. Researchers noted that rs71626704 and rs76413899 were associated with asthma and cheilitis, although the correlation was not statistically significant.

“Overall, the study showed the association of FLG-SNVs with AD-associated minor clinical features,” the paper read. “We also suggest that FLG P478S is a kind of disease modifier which affects serologic parameters such as EDM (eosinophil degranulation marker) and ECP (eosinophil catabolite protein).”

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