Genetic Determinants of Allergic Diseases
Summary
Allergic diseases arise from dysregulated immune responses to ordinarily innocuous antigens. Genetic predisposition plays a central role in shaping individual susceptibility, with heritability estimates for conditions such as asthma and atopic dermatitis often exceeding 50 percent. Early family and twin studies pointed to strong genetic influences on total IgE levels and allergic sensitisation. More recently, genome-wide association studies have identified over one hundred risk loci, including variants in genes encoding cytokines (IL4, IL13, IL5), their receptors (IL4R, IL13RA1) and signalling molecules (STAT6, GATA3). Loci in the HLA region and 17q21 (ORMDL3, GSDMB) further underscore the involvement of antigen presentation and epithelial barrier function. Functional studies of polymorphisms in FCER1A and FCER1B have demonstrated effects on receptor expression and circulating IgE. Integrative approaches combining transcriptomics, proteomics and Mendelian randomisation are now revealing causal pathways, highlighting novel therapeutic targets and illustrating how genetic variants modulate immune‐mediated inflammation, barrier integrity and allergen recognition at a global scale.
Research from Nature Portfolio
Recent studies have identified a non-synonymous variant in the beta subunit of the high-affinity IgE receptor (FCER1B) that alters receptor function and is associated with risk of allergic rhinitis and lower serum IgE levels. This finding highlights how single-amino-acid changes in immune receptors can modulate effector‐cell activation and influence clinical phenotype.
Genetic Determinants of Allergic Diseases publication trend
The graph below shows the total number of articles in genetic determinants of allergic diseases across all publications each year (not limited to Nature Index journals).
Technical terms
Single-nucleotide polymorphism (SNP): A variation at a single base pair in the DNA sequence that can affect gene function or regulation.
Immunoglobulin E (IgE): An antibody isotype central to allergic sensitisation and effector-cell activation.
High-affinity IgE receptor (FcεRI): A multi-subunit receptor on mast cells and basophils that binds IgE and triggers allergic inflammation.
Genome-wide association study (GWAS): An approach scanning genetic variants across the genome to identify associations with traits or diseases.
Transcriptome-wide association study (TWAS): A method linking gene expression levels to disease traits genome-wide.
Mendelian randomisation (MR): A technique using genetic variants as natural experiments to infer causal effects of biomarkers on disease.
References
- Transcriptome-wide association study of circulating IgE levels identifies novel targets for asthma and allergic diseases. Frontiers in Immunology (2023).
- Proteomic analysis reveals potential therapeutic targets for childhood asthma through Mendelian randomization. Clinical and Translational Allergy (2024).
- Genome-Wide Scan on Total Serum IgE Levels Identifies FCER1A as Novel Susceptibility Locus. PLOS Genetics (2008).
- A Nonsynonymous FCER1B SNP is Associated with Risk of Developing Allergic Rhinitis and with IgE Levels. Scientific Reports (2016).
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