A genome-wide association study of total serum and mite-specific IgEs in asthma patients

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 var...

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Bibliographic Details
Published in:PloS one 2013-08, Vol.8 (8), p.e71958-e71958
Main Authors: Kim, Jeong-Hyun, Cheong, Hyun Sub, Park, Jong Sook, Jang, An-Soo, Uh, Soo-Taek, Kim, Yong-Hoon, Kim, Mi-Kyeong, Choi, Inseon S, Cho, Sang Heon, Choi, Byoung Whui, Bae, Joon Seol, Park, Choon-Sik, Shin, Hyoung Doo
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
Allergic diseases
Allergies
Animals
Antibody Specificity - immunology
Antigens, Dermatophagoides - immunology
Asthma
Asthma - genetics
Asthma - immunology
Asthma - metabolism
B cells
Biology
Child
Chromosomes
Epidemiology
Female
Gene expression
Genetic diversity
Genetic factors
Genetic variance
Genetics
Genome-wide association studies
Genome-Wide Association Study
Genomes
Genomics
Hospitals
House dust
Humans
Immunoglobulin E
Immunoglobulin E - blood
Immunoglobulin E - immunology
Immunoglobulins
Internal medicine
Life sciences
Linkage Disequilibrium
Male
Medical research
Medicine
Middle Aged
Mites
Pathogenesis
Patients
Phosphatidylinositol
Polymorphism, Single Nucleotide
Pyroglyphidae - immunology
Respiratory diseases
Signal Transduction
Signaling
Single nucleotide polymorphisms
Single-nucleotide polymorphism
Young Adult
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Summary: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.
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0071958