How is "Urticaria" encoded by the genome?
Have you ever raised red bumps on your skin? The skin condition is called hives, welts or wheals. Hives are also known as urticaria, can be chronic (long lasting) and idiopathic(sporadic). The development of chronic spontaneous urticaria (CSU), a common skin disorder, is not entirely known.
A recent study reported that genetics had been attributed to play an important role in the causation of CSU. The interleukin-1 (IL-1) is a well-known pro-inflammatory cytokine that plays an important role in the adaptive immune system's innate immune system and regulatory function. The function of IL-1 is not restricted only to inflammation, as it influences physiological functions such as learning, sleeping, appetite, metabolism, and hematopoiesis. Mast cells can produce or discharge IL-1, but they also express IL-1 receptors and can respond to its stimulation producing multiple inflammatory cytokines. In this context, the researchers hypothesized that functional polymorphisms of IL-1 gene could be a risk factor for CSU because the role of the mast cell in CSU is relatively well proven.
Researchers examined the genetic makeup of 153 unrelated CSU patients and 104 unrelated healthy volunteers to search for an association of interleukin-1 (IL-1) gene polymorphisms with the pathogenesis of CSU. All CSU patients were positive for autologous serum skin test (ASST), which indicates the presence of circulating functional autoantibodies. The rs1304037 and rs1800587 polymorphisms in the IL-1 were analyzed in all studied subjects. The Urticaria Activity Score was used to assess disease intensity. This questionnaire calculates the number of wheals and the intensity of pruritus. A 7-day monitoring period (UAS7) results in a summary score of 0 to 42. Results showed that the prevalence of GG genotype of rs1800587 and the G allele was statistically significantly higher in the CSU group compared to the control group.
This is the first study to suggest a significant role of IL1 gene polymorphisms in CSU susceptibility. The finding must be considered when searching for further components of CSU pathophysiology. Undoubtedly, the genetics of CSU is complex, however, this research area should be explored in further studies on the pathogenesis of CSU. Since the role of an inflammatory phenomenon in CSU is relatively well proven, the role of certain inflammation-related polymorphisms should be further explored. Read more about the study here:
https://pubmed.ncbi.nlm.nih.gov/33064598/
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