Abstract
Immunoglobulin E (IgE) is one of the central players in asthma and allergic diseases. Although the serum IgE level, a useful endophenotype, is generally increased in patients with asthma, genetic factors influencing IgE regulation in asthma are still not fully understood. To identify the genetic variations associated with total serum and mite-specific IgEs in asthmatics, a genome-wide association study (GWAS) of 657,366 single nucleotide polymorphisms (SNPs) was performed in 877 Korean asthmatics. This study found that several new genes might be associated with total IgE in asthmatics, such as CRIM1 (rs848512, P = 1.18×10−6; rs711254, P = 6.73×10−6), ZNF71 (rs10404342, P = 7.60×10−6), TLN1 (rs4879926, P = 7.74×10−6), and SYNPO2 (rs1472066, P = 8.36×10−6; rs1038770, P = 8.66×10−6). Regarding the association of specific IgE to house dust mites, it was observed that intergenic SNPs nearby to OPRK1 and LOC730217 might be associated with Dermatophagoides pteronyssinus (D.p.) and Dermatophagoides farinae (D.f.) in asthmatics, respectively. In further pathway analysis, the phosphatidylinositol signaling system and adherens junction pathways were estimated to play a role in the regulation of total IgE levels in asthma. Although functional evaluations and replications of these results in other populations are needed, this GWAS of serum IgE in asthmatics could facilitate improved understanding of the role of the newly identified genetic variants in asthma and its related phenotypes.
Highlights
Asthma, a chronic inflammatory respiratory disease, is characterized by bronchial hyperresponsiveness
Together with the identification of new potential risk factors, our genome-wide association study (GWAS) of total serum immunoglobulin E (IgE) and mite-specific IgE in asthmatics may provide additional supporting information about genetic associations related to IgE function in asthma and related diseases
On the other hand, being that asthma is a complex disease, we cannot rule out the possibility that confounders with small to modest effects may contribute to the regulation of total IgE in asthma [26]
Summary
A chronic inflammatory respiratory disease, is characterized by bronchial hyperresponsiveness. It is generally known that patients with asthma show an increase in levels of serum immunoglobulin E (IgE), a closely related endophenotype of asthma [2,3]. Several loci, such as the CTLA4 and C11orf30-LRRC32 regions, have been shown to be associated with total serum IgE levels in patients with asthma [2,4]. Given that asthma is a complex disease and that the nature of the associations between genetic variations and levels of IgE in asthmatics is not yet fully understood, this study aims to identify additional risk loci for the elevation of total serum IgE in asthmatics
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