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

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• 作者：H. Suzuki ; Y. Makino ; M. Nagata ; J. Furuta ; H. Enomoto ; T. Hirota ; M. Tamari and E. Noguchi
• 刊名：Allergy
• 出版年：2016
• 出版时间：October 2016
• 年：2016
• 卷：71
• 期：10
• 页码：1486-1489
• 全文大小：179K
• ISSN：1398-9995

文摘

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.