Abstract
This study investigated rare variants associated with atopic dermatitis. We performed exome analyses on 37 patients who were diagnosed with atopic dermatitis by board-certified dermatologists and had total serum IgE levels greater than 1000 IU/ml. The exome analysis identified seven variants with <1% allele frequency in Asian (ASN) population of 1000 Genomes Project phase 1 data and >5% allele frequency in the atopic dermatitis exome samples. We then conducted a replication study using 469 atopic dermatitis patients with total serum IgE ≥1000 IU/ml and 935 Japanese controls to assess the presence of these 7 candidate variants. The replication study confirmed that CYP27A1 rs199691576 (A/G) was associated with atopic dermatitis with high serum IgE levels (P = 0.012, odds ratio = 2.1). CYP27A1 is involved in the metabolism of vitamin D3, which plays important roles in modulating immune function. Previous studies have reported polymorphisms in vitamin D pathway genes that are associated with allergy-related phenotypes. Our data confirm the importance of genes regulating the vitamin D pathway in the development of atopic dermatitis.
Original language | English |
---|---|
Pages (from-to) | 1486-1489 |
Number of pages | 4 |
Journal | Allergy: European Journal of Allergy and Clinical Immunology |
Volume | 71 |
Issue number | 10 |
DOIs | |
Publication status | Published - 2016 Oct 1 |
Externally published | Yes |
Keywords
- Atopic dermatitis
- Exome analysis
- Vitamin D
- and CYP27A1
ASJC Scopus subject areas
- Immunology and Allergy
- Immunology