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Open Access Research article

Variants in the vitamin D receptor gene and asthma

Matthias Wjst

Author Affiliations

Gruppe Molekulare Epidemiologie, Institut für Epidemiologie, GSF – Forschungszentrum für Umwelt und Gesundheit, Ingolstädter Landstrasse 1, D-85758 Neuherberg / Munich, Germany

BMC Genetics 2005, 6:2  doi:10.1186/1471-2156-6-2

Published: 15 January 2005



Early lifetime exposure to dietary or supplementary vitamin D has been predicted to be a risk factor for later allergy. Twin studies suggest that response to vitamin D exposure might be influenced by genetic factors. As these effects are primarily mediated through the vitamin D receptor (VDR), single base variants in this gene may be risk factors for asthma or allergy.


951 individuals from 224 pedigrees with at least 2 asthmatic children were analyzed for 13 SNPs in the VDR. There was no preferential transmission to children with asthma. In their unaffected sibs, however, one allele in the 5' region was 0.5-fold undertransmitted (p = 0.049), while two other alleles in the 3' terminal region were 2-fold over-transmitted (p = 0.013 and 0.018). An association was also seen with bronchial hyperreactivity against methacholine and with specific immunoglobulin E serum levels.


The transmission disequilibrium in unaffected sibs of otherwise multiple-affected families seem to be a powerful statistical test. A preferential transmission of vitamin D receptor variants to children with asthma could not be confirmed but raises the possibility of a protective effect for unaffected children.