Genetic and Epigenetic Components of Aspirin-Exacerbated Respiratory Disease

Dahlin, Amber; Weiss, Scott T.

doi:10.1016/j.iac.2016.06.010

Cited by 23 publications

(19 citation statements)

References 111 publications

(173 reference statements)

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“…We discuss the challenges posed by GWASs of complex diseases and strategies to overcome these challenges. Other aspects of asthma genetics, such as gene-environment interactions,678 occupational asthma,9 AERD1011 or pharmacogenetics1213 are reviewed elsewhere.…”

Section: Introductionmentioning

confidence: 99%

Lessons Learned From GWAS of Asthma

Kim

Ober

2019

Allergy Asthma Immunol Res

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Asthma is a common complex disease of the airways. Genome-wide association studies (GWASs) of asthma have identified many risk alleles and loci that have been replicated in worldwide populations. Although the risk alleles identified by GWAS have small effects and explain only a small portion of prevalence, the discovery of asthma loci can provide an understanding of its genetic architecture and the molecular pathways involved in disease pathogenesis. These discoveries can translate into advances in clinical care by identifying therapeutic targets, preventive strategies and ultimately approaches for personalized medicine. In this review, we summarize results from GWAS of asthma from the past 10 years and the insights gleaned from these discoveries.

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Section: Introductionmentioning

confidence: 99%

Lessons Learned From GWAS of Asthma

Kim

Ober

2019

Allergy Asthma Immunol Res

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“…There are few studies of candidate genes in AERD, and most were detected in Asian populations. However, some findings are conflicting, and the majority of reported associations lack of replication (Dahlin and Weiss, 2016 ). One study in a different population was conducted among Spanish people.…”

Section: Discussionmentioning

confidence: 99%

MS4A2-rs573790 Is Associated With Aspirin-Exacerbated Respiratory Disease: Replicative Study Using a Candidate Gene Strategy

et al. 2018

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Aspirin exacerbated respiratory disease (AERD) is a set of diseases of the unified airway, and its physiopathology is related to disruption of the metabolism of arachidonic acid (AA). Genetic association studies in AERD had explored single nucleotide polymorphism (SNPs) in several genes related to many mechanisms (AA metabolism, inflammation, drug metabolism, etc.) but most lack validation stages in second populations. Our aim is to evaluated whether contribution to susceptibility of SNPs reported in other populations are associated with AERD in Mexican Mestizo patients. We developed a replicative study in two stages. In the first, 381 SNPs selected by fine mapping of associated genes, (previously reported in the literature), were integrated into a microarray and tested in three groups (AERD, asthma and healthy controls -HC-) using the GoldenGate array. Results associated to risk based on genetic models [comparing: AERD vs. HC (comparison 1, C1), AERD vs. asthma (C2), and asthma vs. HC (C3)] were validated in the second stage in other population groups using qPCR. In the first stage, we identified 11 SNPs associated with risk in C1.The top SNPs were ACE-rs4309C (p = 0.0001) and MS4A2-rs573790C (p = 0.0002). In C2, we detected 14 SNPs, including ACE-rs4309C (p = 0.0001). In C3, we found MS4A2-rs573790C (p = 0.001). Using genetic models, C1 MS4A2-rs57370 CC (p = 0.001), and ACE-rs4309 CC (p = 0.002) had associations. In C2 ACE-rs4309 CC (p = 0.0001) and C3 MS4A2-rs573790 CC (p = 0.001) were also associate with risk. In the second stage, only MS4A2-rs573790 CC had significance in C1 and C3 (p = 0.008 and p = 0.03). We concluded that rs573790 in the MS4A2 gene is the only SNP that supports an association with AERD in Mexican Mestizo patients in both stages of the study.

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“…23 Epigenetic changes have also been identified in a variety of other allergic diseases, including atopic dermatitis, 24 allergic rhinitis, 25 and aspirin-exacerbated respiratory disease. 26…”

Section: Epigenomicsmentioning

confidence: 99%

The nuts and bolts of omics for the clinical allergist

Virkud

Kelly

Wood

et al. 2019

Annals of Allergy, Asthma & Immunology

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The term omics (aka multi-omics) refers to the usage of high-throughput technology to characterize a set of molecules relevant to a field of biology, and has grown to encompass a variety of "-omes," including the genome (DNA), transcriptome (RNA), proteome (proteins), metabolome (metabolites), microbiome (microbiota), and exposome (exposures). Integrative omics refers to the study of how different omics data interact to affect a condition or disease of interest. Personalized medicine is an approach to studying disease origin, pathogenesis, progression, and treatment that uses information specific to an individual (for example, their genome or transcriptome) to identify the optimal treatment option for that individual. Endotype refers to a subtype of a disease that is defined by a distinct pathophysiologic mechanism, in contrast with a phenotype, which describes characteristics of a disease without implying a different underlying mechanism.

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Genetic and Epigenetic Components of Aspirin-Exacerbated Respiratory Disease

Cited by 23 publications

References 111 publications

Lessons Learned From GWAS of Asthma

Lessons Learned From GWAS of Asthma

MS4A2-rs573790 Is Associated With Aspirin-Exacerbated Respiratory Disease: Replicative Study Using a Candidate Gene Strategy

The nuts and bolts of omics for the clinical allergist

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