1. ¹The Center for Genome Science, National Institute of Health, Seoul, Korea
2. ²Genome Research Center for Allergy and Respiratory Diseases, Soonchunhyang University Bucheon Hospital and Seoul Hospital, Seoul, Korea
3. ³Department of Genetic Epidemiology, SNP Genetics Inc., Seoul, Korea

Correspondence: Dr K Kimm, Center for Genome Science, National Institute of Health, 5 Nokbun-dong, Eunpyung-gu, Seoul 122-701, Korea. E-mail: kimye@ngri.go.kr

⁴These authors equally contributed to this work.

Received 7 November 2006; Revised 14 March 2007; Accepted 15 March 2007; Published online 26 April 2007.

Abstract

Dendritic cells (DCs), the most abundant antigen-presenting cells in the lung, have been drawing attention for their roles in specific allergic responses to aeroallergens with support of Th lymphocytes, and in persistent inflammatory changes in allergic asthma. To identify genetic factors that may be involved in the asthma susceptibility and development of the disease phenotypes, we examined association of DC-specific DCNP1 polymorphisms with the disease risk. The case–control study revealed association of the nucleotide variants with serum immunoglobulin E (IgE) levels specific for Dermatophagoides farinae (Der f 1) and Dermatophagoides pteronyssinus (Der p 1), major aeroallergens of dust mites, among subjects with asthma. In particular, the T-allele-carrying genotype frequencies for one of the variants (c.-1289C>T) located in the promoter region were found increased in the asthmatic group with low levels of the mite-specific IgE (odds ratio (OR)=0.63 (0.48–0.83) for Der p 1). Results from functional analyses indicated that the promoter variant would affect the gene expression by modulating DNA–protein interaction. We propose that the genetic polymorphism of DCNP1 may influence production of specific IgE by altering DC functions in the mite allergen presenting and/or processing. The functional relevance of the genetic variation would provide an important insight into the genetic basis of allergic response to the mite antigens.