D1.306 - Is there a role of Genetics in Acute and Chronic Urticaria? A Systematic Review and Meta-analysis

Chronic urticaria (CU) is a clinically heterogeneous syndrome with an unclear etiology. Genetic and epigenetic factors have been implicated in CU pathogenesis, diagnosis, and treatment. This systematic review and meta-analysis explored the role of genetic polymorphisms and their associations with disease susceptibility, severity, and therapeutic response.

A systematic review was conducted following PRISMA guidelines. PubMed, Scopus, and Web of Science databases were searched for relevant studies published up to July 31, 2024. Eligible studies included those investigating genetic polymorphisms, genome-wide association studies (GWAS), and epigenetic modifications in acute or chronic urticaria. A meta-analysis was performed for genetic factors reported in at least three studies

A total of 55 studies were included in the systematic review. The meta-analysis identified significant associations between CU and several genetic polymorphisms. HLA-B44 was strongly linked to CU susceptibility (OR: 6.18, 95% CI: 4.15–9.22, I² = 0%). Polymorphisms in the vitamin D receptor (VDR) gene, including FokI (OR: 1.87, 95% CI: 1.27–2.74, I² = 0%), TaqI (OR: 2.10, 95% CI: 1.28–3.47, I² = 34%), and BsmI (OR: 1.55, 95% CI: 1.06–2.25, I² = 0%), were also significantly associated with CU. Additionally, genetic variations in CRTH2, FcεR1α, and CRP influenced disease severity and response to antihistamine therapy.

This study highlights the genetic basis of CU, reinforcing its classification as an immune-mediated disorder. Genetic biomarkers, including HLA-B44 and VDR polymorphisms, have the potential to improve diagnostic accuracy and guide personalized treatment strategies. Future research should explore gene-environment interactions, epigenetic modifications, and the genetic basis of non-CSU subtypes to enhance precision medicine approaches in urticaria management.