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Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway.

Respir. Res. 7, 1-11 (2006)
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Open Access Gold
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The vitamin D prophylaxis of rickets in pregnant women and newborns may play a role in early allergic sensitization. We now asked if an already diseased population may have inherited genetic variants in the vitamin D turnover or signalling pathway. Serum levels of calcidiol (25-OH-D3) and calcitriol (1,25-(OH)2-D3) were retrospectively assessed in 872 partipants of the German Asthma Family Study. 96 DNA single base variants in 13 different genes were genotyped with MALDI-TOF and a bead array system. At least one positive SNP with a TDT of p < 0.05 for asthma or total IgE and calcidiol or calcitriol was seen in IL10, GC, IL12B, CYP2R1, IL4R, and CYP24A1. Consistent strong genotypic association could not be observed. Haplotype association were found only for CYP24A1, the main calcidiol degrading enzyme, where a frequent 5-point-haplotype was associated with asthma (p = 0,00063), total IgE (p = 0,0014), calcidiol (p = 0,0043) and calcitriol (p = 0,0046). Genetic analysis of biological pathways seem to be a promising approach where this may be a first entry point into effects of a polygenic inherited vitamin D sensitivity that may affect also other metabolic, immunological and cancerous diseases.
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Publication type Article: Journal article
Document type Scientific Article
Language english
Publication Year 2006
HGF-reported in Year 0
ISSN (print) / ISBN 1465-9921
e-ISSN 1465-993X
Quellenangaben Volume: 7, Issue: , Pages: 1-11 Article Number: , Supplement: ,
Publisher BioMed Central
Reviewing status Peer reviewed
Institute(s) Institute of Epidemiology (EPI)
Institute of Developmental Genetics (IDG)
POF-Topic(s)
30204 - Cell Programming and Repair
Research field(s)
Genetics and Epidemiology
PSP Element(s) FE 73922
G-500500-001
Erfassungsdatum 2006-09-25