Allergy Asthma Immunol Res.  2011 Oct;3(4):236-244. 10.4168/aair.2011.3.4.236.

The Search for Genetic Variants and Epigenetics Related to Asthma

Affiliations
  • 1Genome Research Center for Allergy and Respiratory Disease, Division of Allergy and Respiratory Medicine, Soonchunhyang University Hospital, Bucheon, Korea. mdcspark@unitel.co.kr

Abstract

For the past two decades, a huge number of genetic studies have been conducted to identify the genetic variants responsible for asthma risk. Several types of genetic and genomic approaches, including linkage analysis, candidate gene single nucleotide polymorphism studies, and whole genome-wide association studies have been applied. In this review article, the results of these approaches are summarized, and their limitations are discussed. Additionally, perspectives for applying upcoming new epigenetic or genomic technologies, such as copy number variation, are introduced to increase our understanding of new omic approaches to asthma genetics.

Keyword

Asthma; epigenetics; gene; genome; linkage; polymorphism; variants

MeSH Terms

Asthma
Coat Protein Complex I
Epigenomics
Genetic Association Studies
Genome
Genome-Wide Association Study
Polymorphism, Single Nucleotide
Coat Protein Complex I

Figure

  • Fig. 1 Odd ratios of single nucleotide polymorphisms (SNPs) associated with asthma and asthma phenotypes including IgE and eosinophils counts (2003-2010, SCH Genome Research Center). IgE, immunoglobulin E; RSV, respiratory syncytial virus; NO2, nitrogen dioxide; FcRI and FcRII, high-affinity IgE receptor isoforms; TLR, toll-like receptor; M-CSF, macrophage colony-stimulating factor; NFAT, nuclear factor of activated T-cells; API, activator protein 1; GATA, GATA-binding factor; NFκB, nuclear factor kappa B; IκB, inhibitor of NFκB; OR, odd ratios; ADAM33,15 disintegrin and metalloproteinase domain-containing protein 33; CXCR3,16 chemokine receptor 3; IL17Rβ,17 interleukin 17 receptor β; CD40,18 cluster of differentiation 40; RUNX119; runt-related transcription factor 1; ITK,20 IL2-inducible T-cell kinase; CTNNα3,21 catenin α 3; CSF1R,22 colony-stimulation factor 1 receptor; MCP3,23 monocyte chemotactic protein 3; PPAR,24 peroxisome proliferator-activated receptors; DCNP1,25 dendritic cell nuclear protein 1; IL5Rα,26 interleukin 5 receptor α; STAT4,27 signal transducer and activator of transcription 4; CCR3,28 C-C chemokine receptor type 3; MYLK,29 myosin light chain kinase; eotaxin.30

  • Fig. 2 DNA methylation pattern of nasal polyps from patients with aspirin-exacerbated respiratory disease and those with aspirin tolerant asthma. (A) Volcano plot of differential methylation level between aspirin intolerant asthma (AIA) and aspirin tolerant asthma (ATA) in nasal polyp tissues (A-1) and buffy coat samples (A-2). Red dots, Delta Beta ≥0.5 and P value ≤0.01; blue dots, Delta Beta ≤-0.5 and P value ≤0.01; grey dots, -0.5≤ Delta Beta ≤0.5 and P value >0.01. Delta Beta: difference in DNA methylation level (subtracting the DNA methylation level of ATA from AIA). -log (P): log-transformed t-test P values. (B) Distribution of the DNA methylation level of AIA and ATA in buffy coat and nasal polyps. Average Beta: DNA methylation level (0 to 1). (C) Heat map of 490 differentially methylated CpGs between AIA and ATA in buffy coat and nasal polyps.


Cited by  1 articles

Clinical Implications of Single Nucleotide Polymorphisms in Diagnosis of Asthma and its Subtypes
Jong-Sook Park, Ji-Hye Son, Choon-Sik Park, Hun Soo Chang
Yonsei Med J. 2019;60(1):1-9.    doi: 10.3349/ymj.2019.60.1.1.


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