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Association of vitamin D receptor gene polymorphisms with severe atopic dermatitis in adults.
MedLine Citation:
PMID:  23034014     Owner:  NLM     Status:  Publisher    
Background:  Vitamin D mediates immunomodulatory functions and beneficial functions in allergic diseases have been suggested. Vitamin D receptor (VDR) gene polymorphisms are known but have not been studied in atopic dermatitis (AD) patients yet. Objective: We investigated the frequency of 4 common VDR gene polymorphisms in AD patients and their potential functional relevance. Patients/Methods:  In this case-control study, 265 AD patients (142 severe AD, SCORAD > 40; 123 moderate AD, SCORAD 15-40) and 265 healthy controls were genotyped for 4 common VDR gene polymorphisms by restriction fragment length polymorphism analysis. The VDR haplotype sequences were analyzed in silico. Baseline and activation-induced gene expression of VDR and the vitamin D metabolizing enzyme CYP24A1 was analyzed in monocytes of homozygous VDR haplotype carriers by quantitative RT-PCR. Results:  In patients with severe AD, the VDR Bsm1 (rs1544410) G-allele, Apa1 (rs7975232) C-allele and Taq1 (rs731236) T-alleles were overrepresented as compared to healthy controls. These SNPs are tightly linked and the VDR haplotype GCT is correlated with severe AD and complementary AAC with protection of AD. The VDR haplotype GCT region is evolutionary conserved. The VDR Fok1 (rs2228570) SNP was not associated with AD. Baseline VDR expression in monocytes and short-term activation is haplotype-independent. Conclusion:  A specific VDR haplotype is more frequent in severe AD patients. These data indicate that VDR contributes to the control of AD, e.g. by regulation of the epidermal barrier function and/or local immune response.
G Heine; N Hoefer; A Franke; U Nöthling; R R Schumann; L Hamann; M Worm
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-10-3
Journal Detail:
Title:  The British journal of dermatology     Volume:  -     ISSN:  1365-2133     ISO Abbreviation:  Br. J. Dermatol.     Publication Date:  2012 Oct 
Date Detail:
Created Date:  2012-10-4     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0004041     Medline TA:  Br J Dermatol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012 British Association of Dermatologists.
Klinik für Dermatologie, Venerologie und Allergologie, Allergie-Centrum-Charité, CCM, Charité - Universitätsmedizin Berlin, Germany Institut für Mikrobiologie und Hygiene, Charité- Univer-sitätsmedizin Berlin, Germany Institute for Clinical Molecularbiology, Christian-Albrechts-University Kiel, Germany Popgen Biobank, Institute for Experimental Medicine, Christian-Albrechts-University Kiel, Germany.
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