title: A Promoter Polymorphism of the Vitamin D Metabolism Gene Cyp24a1 is Associated with Severe Atopic Dermatitis in Adults.
abstract: Atopic dermatitis (AD) is a chronic inflammatory skin disease in which genetic and environmental factors result in impaired epidermal barrier functioning and an altered immune response. Vitamin D influences these 2 pathomechanisms, and beneficial results have been suggested in AD. The aim of this study was to investigate the potential roles of the 2 essential vitamin D metabolizing enzymes. The frequencies of 6 common polymorphisms in the genes encoding the vitamin D synthesizing enzyme Cyp27b1 or the inactivating enzyme Cyp24a1 were assessed in 281 patients with AD and 278 healthy donors in a case-control setting. The Cyp24a1 rs2248359-major C allele was significantly over-represented in patients with AD compared with controls, which was more pronounced in patients with severe AD. In addition, haplotypes of the Cyp24a1 and Cyp27b1 genes were associated with AD. These data support that vitamin D mediates beneficial functions in AD and suggest that future studies on the impact of vitamin D on AD should consider the individual genotypes of the vitamin D metabolizing enzymes.
authors: Klinik für Dermatologie, Charité - Universitätsmedizin Berlin, Berlin, Germany.
authors: Jana
authors: J
authors: Hallau
authors: Lutz
authors: L
authors: Hamann
authors: Ralf R
authors: RR
authors: Schumann
authors: Margitta
authors: M
authors: Worm
authors: Guido
authors: G
authors: Heine
mesh_terms: D015090:25-Hydroxyvitamin D3 1-alpha-Hydroxylase / Q000235:genetics; D000328:Adult; D016022:Case-Control Studies; D003876:Dermatitis, Atopic / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D012720:Severity of Illness Index; D014807:Vitamin D / Q000378:metabolism*; D065668:Vitamin D3 24-Hydroxylase / Q000235:genetics* / Q000378:metabolism
chemical_list: D014807:Vitamin D; C585549:CYP24A1 protein, human; D065668:Vitamin D3 24-Hydroxylase; D015090:25-Hydroxyvitamin D3 1-alpha-Hydroxylase; C000600378:CYP27B1 protein, human