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

机译：CYP27A1的一种罕见变异及其与高血清总IgE的特应性皮炎的相关性

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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.
机译：这项研究调查了与特应性皮炎相关的罕见变异。我们对37名经董事会认证的皮肤科医生诊断为特应性皮炎且血清总IgE水平高于1000 IU / ml的患者进行了外显子组分析。外显子组分析确定了七个变异体，这些变异体在1000个基因组计划的第一阶段数据的亚洲（ASN）人群中，等位基因频率<1％，在特应性皮炎外显子组样本中的等位基因频率> 5％。然后，我们使用469名总血清IgE> = 1000 IU / ml的特应性皮炎患者和935个日本对照进行了一项复制研究，以评估这7个候选变体的存在。复制研究证实CYP27A1 rs199691576（A / G）与高血清IgE水平相关的特应性皮炎（P = 0.012，优势比= 2.1）。 CYP27A1参与维生素D3的代谢，在调节免疫功能中起重要作用。先前的研究报道了维生素D通路基因中与过敏相关表型有关的多态性。我们的数据证实了在特应性皮炎发展过程中调节维生素D途径的基因的重要性。

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