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

Abstract

These findings suggest that the -509C>T polymorphism in the TGFbeta1 promoter may contribute to the development of the AICU phenotype.

Genetic variants associated with drugs-induced immediate hypersensitivity reactions: a PRISMA-compliant systematic review

“…The nonsynonymous variant on the diamine oxidase gene (DAO rs10156191, p.Thr16Met) was moderately but significantly associated with cross-intolerance to NSAIDs (OR, 1.59; 95% CI, 1.27-2.00; P = 6 9 10 À5 for the minor allele) (45). In contrast, HNMT was the only significant predictor of this pathway in NAR to aspirin (32,33,36). Results from these studies suggest that mutations in genes encoding histaminemetabolizing enzymes may increase the risk, or modify the clinical presentation, of NAR, in which histamine plays an important role.…”

“…1). Among the 42 selected studies that reported genetic predictors in association with immediate-type hypersensitivity, 19 were related to BLs (12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23)(24)(25)(26)(27)(28)(29)(30) (Table 1), 12 to aspirin (31)(32)(33)(34)(35)(36)(37)(38)(39)(40)(41)(42) (Table 2), and eight to other NSAIDs (43-50) (Table 3). Three studies reported genetic predictors in association with biologicals, including hypersensitivity to asparaginase (51), EGF receptor inhibitors (52), and infliximab (53) ( Table 4).…”

“…They highlighted the involvement of genes that can be grouped into four pathogenic groups: (i) the membrane-spanning 4A gene family (FCER1A (formerly, FceR1a), MS4A2 (formerly, FceR1b), and FCER1G (formerly, FceR1c); (ii) the histamine production pathway (HNMT) (34,35,38); (iii) the inflammatory cytokines (TGFB1, TNF, and IL18) (36,37,40); and (iv) the arachidonic acid pathway (ALOX5, LTC4S, TBXA2R, and PTGER4) (33,39,41,42) (Table 2 Fig. 3).…”

Molecular Genetic Mechanisms of Chronic Urticaria

“…The major allele frequency at TGFβ1 -509C>T was significantly higher in CU patients in an Iranian population 47. In contrast, the minor allele frequency of -509C>T was significantly higher in AICU patients in a Korean population, and this allele tended to be associated with a lower serum level of TGF-β1 48,49. The minor allele of this variant, TGFβ1 -509T, was identified as a risk factor in patients with AERD and asthma in two studies 49,50.…”

Polymorphisms in the transforming growth factor‐β1 gene and the risk of asthma: A meta‐analysis

“…An additional 15 articles were excluded. Five did not report case–control studies, 10–14 three were not asthma studies, 15–17 three were family‐based studies, 18–20 two did not report useable data, 21,22 one was a repeat publication 23 and one reported on TGF‐β2 polymorphisms rather than TGF‐β1 polymorphism 24 . Therefore, 14 eligible articles reporting on TGF‐β1 polymorphisms, 7,25–37 and meeting the inclusion criteria, were identified.…”