Single nucleotide variations in genes associated with innate immunity are enriched in Japanese adult cases of face and neck type atopic dermatitis

Fumiyo Yasuda-Sekiguchi, Aiko Shiohama, Ayano Fukushima, Shoko Obata, Naoko Mochimaru, Aki Honda, Hiroshi Kawasaki, Akiharu Kubo, Tamotsu Ebihara, Masayuki Amagai, Takashi Sasaki

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)


Background: Atopic dermatitis (AD) is heterogenous in terms of phenotype as well as genetic and environmental factors, while its associated genetic factors and pathophysiology are not fully understood. Objective: We identify novel genetic factors enriched in a subgroup of AD patients with characteristic clinical features. Methods: We clinically subgrouped 18 AD patients who exhibited distinctive characteristic of persistent skin eruption areas on the face and neck from 92 Japanese adult AD patients and identified disease-associated genetic factors enriched within the subgroup. Targeted resequencing and subsequent genetic association analyses were used to identify novel enriched genetic variations in the subgroup compared with the other AD patients. Results: Targeted resequencing of 648 skin associated genes revealed an enrichment of 12 single nucleotide variations (SNVs) in patients with face and neck AD (n = 18) compared with the general Japanese population in the database. Subsequent allele frequency comparison between the face and neck AD and non - face and neck AD subgroups revealed enrichment of five SNVs. Multivariate analysis using genotype data revealed that three SNVs in theTLR1, TIRAP, and PSAPL1 genes, two of the three genes are involved in the Toll-like receptor pathway, were significantly enriched in patients with face and neck AD. Conclusion: These findings revealed that the SNVs in genes associated with the innate immune pathway are enriched in a subgroup of AD. The combinational approach of clinical subgrouping and genotyping is valuable for detecting novel disease-associated genetic factors.

Original languageEnglish
Pages (from-to)93-100
Number of pages8
JournalJournal of Dermatological Science
Issue number2
Publication statusPublished - 2021 Feb


  • Atopic dermatitis
  • Clinical subgrouping
  • Single nucleotide variation
  • Targeted resequencing
  • Toll-like receptor pathway

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Dermatology


Dive into the research topics of 'Single nucleotide variations in genes associated with innate immunity are enriched in Japanese adult cases of face and neck type atopic dermatitis'. Together they form a unique fingerprint.

Cite this