A rare variant in CYP27A1 and its association with atopic dermatitis with high serum total IgE

作者：Suzuki H; Makino Y; Nagata M; Furuta J; Enomoto H; Hirota T; Tamari M; Noguchi E^*

来源：Allergy, 2016, 71(10): 1486-1489.

DOI：10.1111/all.12950

• Atopic dermatitis
• Exome analysis
• Vitamin D
• and CYP27A1

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.

• 出版日期2016-10