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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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Antiasthma Drugs: Mast Cell Stabilizers and Anti-IgE Drugs01:25

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Asthma is a chronic respiratory condition for which new therapeutic avenues, including anti-inflammatory drugs like mast cell stabilizers and anti-IgE treatments, continue to be developed.
Mast cell stabilizers, such as cromolyn (also known as sodium cromoglycate) and nedocromil (Tilade), are effective drugs in asthma management. These stabilizers hinder histamine release by skillfully obstructing the activation of mast cells and other cellular entities. Notably, they navigate this task without...
332

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Related Experiment Video

Updated: Jul 16, 2025

Analyzing the Functions of Mast Cells In Vivo Using 'Mast Cell Knock-in' Mice
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Genome-wide meta-analysis implicates variation affecting mast cell biology in urticaria.

Sheila Mary McSweeney1, Jake Saklatvala2, Rossella Rispoli2

  • 1St. John's Institute of Dermatology, London, United Kingdom.

The Journal of Allergy and Clinical Immunology
|September 10, 2023
PubMed
Summary

Genetic factors significantly influence urticaria risk. This study identified six genomic loci associated with urticaria susceptibility, highlighting the role of mast cell biology in its development.

Keywords:
Urticariagenome-wide association studymast cellsmeta-analysis

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Area of Science:

  • Genetics
  • Immunology
  • Dermatology

Background:

  • Urticaria involves mast cell degranulation, causing wheals and angioedema.
  • Heritability studies suggest a strong genetic component to urticaria susceptibility.

Approach:

  • Genome-wide association studies (GWAS) were conducted across three European cohorts.
  • Meta-analysis combined data from 14,306 urticaria cases and 650,664 controls.
  • Fine-mapping and colocalization analyses identified potential causal variants and genes.

Key Points:

  • Six independent genomic loci showed genome-wide significant associations with urticaria risk.
  • Four novel loci were linked to genes involved in mast cell biology: GCSAML, FCER1A, TPSAB1, and CBLB.
  • Colocalization confirmed shared causal variants for urticaria susceptibility and GCSAML/FCER1A expression in skin.

Conclusions:

  • Common genetic variations at six loci contribute to urticaria susceptibility.
  • Genetic variability in mast cell function is implicated in urticaria development.