Association between a TGFβ1 promoter polymorphism and the phenotype of aspirin-intolerant chronic urticaria in a Korean population

Chronic urticaria/angioedema is a common phenotype in patients with aspirin sensitivity; however, its genetic mechanism is not understood. Transforming growth factor (TGF)beta 1 is a key regulatory cytokine involved in allergic inflammation. We examined the association of a TGF beta 1 genetic polymorphism with aspirin-intolerant chronic urticaria (AICU) and aspirin-tolerant chronic urticaria (ATCU) in a Korean population. A promoter polymorphism in the TGF beta 1 gene, TGF beta 1 -509C > T, was analysed in 112 AICU patients, 153 ATCU patients and 457 normal controls (NC), and the frequency was compared among the groups. Serum TGF beta 1 levels were measured by ELISA. The minor allele frequency of the -509C > T polymorphism was significantly higher in patients with AICU compared with the other two groups (P < 0.02 for AICU vs. NC; P < 0.05 for AICU vs. ATCU). Among the AICU patients, those with the T allele tended to have lower serum TGF beta 1 levels. These findings suggest that the -509C > T polymorphism in the TGF beta 1 promoter may contribute to the development of the AICU phenotype.